format-version: 1.4 date: 25:09:2009 13:37 saved-by: George Gkoutos, Chris Mungall, Sandra Doelken, Sebastian Koehler, PN Robinson ontology: hp/hp-logical-definitions [Term] id: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:281371 [Term] id: HP:0001460 ! Aplasia/Hypoplasia involving the musculature intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0009782 ! Aplasia/Hypoplasia of the biceps intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:37670 ! Biceps brachii [Term] id: HP:0009784 ! Aplasia/Hypoplasia of the triceps intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:37688 ! Triceps brachii [Term] id: HP:0009118 ! Aplasia/Hypoplasia of the mandible intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:52748 ! Mandible [Term] id: HP:0006713 ! Aplasia/Hypoplasia of the scapulae intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:13394 ! Scapula [Term] id: HP:0005772 ! Aplasia/Hypoplasia of the tibia intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:24476 ! Tibia [Term] id: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23900 ! Second metacarpal bone [Term] id: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23901 ! Third metacarpal bone [Term] id: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23902 ! Fourth metacarpal bone [Term] id: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23903 ! Fifth metacarpal bone [Term] id: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:25052 ! Fourth toe [Term] id: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0009787 ! Aplasia/Hypoplasia of the quadriceps intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:22428 ! Quadriceps femoris [Term] id: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010203 ! Aplasia/Hypoplasia of the proximal phalanges of the toes intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:24139 ! Skeleton of upper limb [Term] id: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:24140 ! Skeleton of lower limb [Term] id: HP:0009815 ! Aplasia/Hypoplasia of the extremities intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of _:bones_of_the_extremities [Term] id: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:25051 ! Third toe [Term] id: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:25053 ! Little toe [Term] id: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:16595 ! Pubis [Term] id: HP:0005258 ! Pectoral muscle hypoplasia/aplasia intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:9627 ! Pectoralis major [Term] id: HP:0008386 ! Aplasia/Hypoplasia of the nails intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:9578 ! Pelvis [Term] id: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:24949 ! Little finger [Term] id: HP:0010462 ! Aplasia/Hypoplasia of the ovary intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:7209 ! Ovary !! MULTIPLE GENUS: ![Term] !id: HP:0006315 ! Single median maxillary incisor !intersection_of: PATO:0002001 ! has fewer parts of type !intersection_of: inheres_in FMA:75150 ! Dentition !intersection_of: PATO:0001924 ! mislocalised medially !intersection_of: towards FMA:55722 ! Upper central secondary incisor tooth [Term] id: HP:0006485 ! Agenesis of incisor intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:75150 ! Dentition intersection_of: towards FMA:12823 ! Incisor tooth [Term] id: HP:0006293 ! Agenesis of maxillary central incisor intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:75150 ! Dentition intersection_of: towards FMA:84216 ! Upper central primary incisor tooth [Term] id: HP:0006355 ! Agenesis of mandibular central incisor intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:75150 ! Dentition intersection_of: towards FMA:84218 ! Lower central primary incisor tooth [Term] id: HP:0010626 ! Aplasia of the pituitary gland intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:74627 ! Adenohypophysis [Term] id: HP:0000683 ! Grayish enamel intersection_of: PATO:0000950 ! grey intersection_of: inheres_in FMA:55629 ! Enamel [Term] id: HP:0011082 ! Conical primary incisor intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:84200 ! Primary incisor tooth [Term] id: HP:0010228 ! Absent epiphyses of the phalanges of the hand intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23914 ! Phalanx of finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0005273 ! Absent nasal septal cartilage intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:46472 ! Nose intersection_of: towards FMA:54375 ! Nasal septum [Term] id: HP:0010305 ! Absence of the sacrum intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:16202 ! Sacrum [Term] id: HP:0009393 ! Absent epiphyses of the 4th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0000337 ! Broad forehead intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0000348 ! High forehead intersection_of: PATO:0000570 ! increased height intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0000341 ! Narrow forehead intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0000340 ! Sloping forehead intersection_of: PATO:0001481 ! sloped intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0004045 ! Sloping ulnar metaphysis intersection_of: PATO:0001481 ! sloped intersection_of: inheres_in FMA:33767 ! Metaphysis of ulna [Term] id: HP:0009914 ! Cyclopia intersection_of: PATO:0000001 ! quality intersection_of: has_part _:central_eye intersection_of: has_part _:single_eye [Term] id: HP:0006289 ! Agenesis of central incisor intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0006293 ! Agenesis of maxillary central incisor intersection_of: has_part HP:0006355 ! Agenesis of mandibular central incisor [Term] id: _:central_eye is_anonymous: true intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:12513 ! Eyeball intersection_of: towards FMA:264779 ! Nasion [Term] id: _:single_eye is_anonymous: true intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: inheres_in FMA:24728 ! Face intersection_of: towards FMA:12513 ! Eyeball [Term] id: HP:0008083 ! 2nd-5th toe middle phalangeal hypoplasia intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe intersection_of: has_part HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe intersection_of: has_part HP:0010381 ! Abnormality of the middle phalanx of the 4th toe intersection_of: has_part HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: _:low_forehead is_anonymous: true intersection_of: PATO:0000569 ! decreased height intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0002007 ! Frontal bossing intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0003549 ! Abnormality of connective tissue intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9640 ! Portion of connective tissue intersection_of: qualifier PATO:0000460 ! abnormal ! should we consider GO:0009790 ! embryo development ? I used fetus here based on Peter's definition [Term] id: HP:0001197 ! Abnormality of prenatal development or birth intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:63919 ! Fetus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001791 ! Fetal ascites intersection_of: PATO:0002002 ! having extra physical parts intersection_of: inheres_in FMA:14704 ! Peritoneal cavity intersection_of: inheres_in_part_of FMA:63919 ! Fetus intersection_of: towards FMA:9673 ! Tissue fluid [Term] id: HP:0000140 ! Abnormality of the menstrual cycle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0042703 ! menstruation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010927 ! Abnormality of divalent inorganic cation homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0072507 ! divalent inorganic cation homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010490 ! Abnormality of the palmar creases intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:281371 ! palmar crease intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010591 ! Abnormality of the proximal tibial epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33113 ! Proximal epiphysis of tibia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010597 ! Abnormality of the distal radial epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33776 ! Distal epiphysis of radius intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010598 ! Abnormality of the proximal humeral epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23362 ! Proximal epiphysis of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010599 ! Abnormality of the distal humeral epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32826 ! Distal epiphysis of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010601 ! Abnormality of the proximal ulnar epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33751 ! Proximal epiphysis of ulna intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010595 ! Abnormality of the distal fibular epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33732 ! Distal epiphysis of fibula intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010594 ! Abnormality of the proximal fibular epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33729 ! Proximal epiphysis of fibula intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010590 ! Abnormality of the distal femoral epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32844 ! Distal epiphysis of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006370 ! Distal ulnar epiphyseal calcifications intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:33754 ! Distal epiphysis of ulna [Term] id: HP:0010600 ! Abnormality of the distal ulnar epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33754 ! Distal epiphysis of ulna intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006261 ! Abnormality of phalangeal joints of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:35285 ! Interphalangeal joint of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010596 ! Abnormality of the proximal radial epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:39780 ! Proximal epiphysis of radius intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010592 ! Abnormality of the distal tibial epiphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33116 ! Distal epiphysis of tibia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000118 ! Phenotypic abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:256135 ! Body intersection_of: qualifier PATO:0000460 ! abnormal ! This is wrong - till Chris fixes BSPO:0000071 ! anterior region ! ![Term] !id: _:anterior_region_of_longitudinal_fissure !intersection_of: FMA:67504 ! Subdivision of cardinal body part !intersection_of: anterior region FMA:83727 ! Longitudinal fissure ! ! This should be a named term in HPO ![Term] !id: _:absent_anterior_region_of_ longitudinal_fissure !is_anonymous: true !intersection_of: PATO:0002000 ! lacking physical part !intersection_of: inheres_in _:anterior_region_of_ longitudinal_fissure [Term] id: _:aplastic_pelvis is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:9578 ! Pelvis [Term] id: HP:0001360 ! Holoprosencephaly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001274 ! Agenesis of corpus callosum intersection_of: has_part HP:0001331 ! Absent septum pellucidum intersection_of: has_part HP:0001341 ! Olfactory lobe agenesis intersection_of: has_part _:absent_longitudinal_fissure intersection_of: has_part HP:0010655 ! Stippling of the epiphyses intersection_of: has_part HP:0009807 ! Single brain ventricle intersection_of: has_part _:undivided_thalamus intersection_of: has_part HP:0001750 ! Single ventricle intersection_of: has_part HP:0010654 ! Aplasia of the falx cerebri intersection_of: has_part HP:0010999 ! Aplasia of the optic tract [Term] id: HP:0010999 ! Aplasia of the optic tract is_anonymous: true intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:62046 ! Optic tract [Term] id: HP:0006988 ! Alobar holoprosencephaly intersection_of: HP:0001360 ! Holoprosencephaly intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0006870 ! Lobar holoprosencephaly intersection_of: HP:0001360 ! Holoprosencephaly intersection_of: qualifier PATO:0000394 ! mild [Term] id: HP:0009830 ! Peripheral neuropathy intersection_of: PATO:0001167 ! damaged intersection_of: inheres_in_part_of FMA:9903 ! Peripheral nervous system [Term] id: HP:0002507 ! Semilobar holoprosencephaly intersection_of: HP:0001360 ! Holoprosencephaly intersection_of: qualifier PATO:0000395 ! moderate [Term] id: HP:0010650 ! Hypoplasia of the premaxilla intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:76869 ! Premaxilla [Term] id: HP:0000050 ! Hypoplastic genitalia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:45640 ! Subdivision of genital system [Term] id: HP:0010654 ! Aplasia of the falx cerebri intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:83967 ! Falx cerebri [Term] id: HP:0011054 ! Agenesis of molar intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:55638 ! Molar tooth [Term] id: HP:0010489 ! Aplasia of the palmar creases intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:281371 ! palmar crease [Term] id: HP:0006184 ! Hypoplastic palmar creases intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:281371 ! palmar crease [Term] id: HP:0001341 ! Olfactory lobe agenesis intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:55675 ! Neuraxis intersection_of: towards FMA:77624 ! Olfactory bulb ! This should be a named term in HPO [Term] id: _:absent_longitudinal_fissure is_anonymous: true intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:83727 ! Longitudinal fissure [Term] id: HP:0010661 ! Absence of the third cerebral ventricle intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:55675 ! Neuraxis intersection_of: towards FMA:78454 ! Third ventricle [Term] id: HP:0010664 ! Fusion of the left and right thalami intersection_of: PATO:0002034 ! undivided intersection_of: inheres_in FMA:62007 ! Thalamus [Term] id: HP:0001750 ! Single ventricle intersection_of: PATO:0002034 ! undivided intersection_of: inheres_in FMA:7100 ! Cardiac ventricle [Term] id: HP:0000767 ! Pectus excavatum intersection_of: PATO:0001857 ! concave intersection_of: inheres_in FMA:87543 ! Anterior chest wall [Term] id: HP:0000768 ! Pectus carinatum intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:50060 ! Chest wall [Term] id: HP:0000119 ! Abnormality of the genitourinary system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:280610 ! genitourinary system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010951 ! Abnormality of the third ventricle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:78454 ! Third ventricle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011076 ! Abnormality of premolar intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55637 ! Premolar tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010939 ! Abnormality of the nasal bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:52745 ! Nasal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011035 ! Abnormality of the renal cortex intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:15581 ! Cortex of kidney intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011006 ! Abnormality of the musculature of the neck intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:71290 ! Musculature of neck intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006529 ! Abnormal pulmonary lymphatics intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:67999 ! Pulmonary lymphatic chain intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100700 ! Abnormality of the arachnoid mater intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9591 ! Arachnoid mater intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011077 ! Abnormality of molar intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55638 ! Molar tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011039 ! Abnormality of the helix intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:60992 ! Helix intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008277 ! Abnormality of zinc homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0055069 ! zinc ion homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001438 ! Abnormality of the abdomen intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9577 ! Abdomen intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003270 ! Abdominal distention intersection_of: PATO:0001602 ! distended intersection_of: inheres_in FMA:9577 ! Abdomen [Term] id: HP:0001538 ! Protuberant abdomen intersection_of: PATO:0000623 ! exserted intersection_of: inheres_in FMA:9577 ! Abdomen [Term] id: HP:0001551 ! Abnormality of the umbilicus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61584 ! Umbilicus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001544 ! Prominent umbilicus intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:61584 ! Umbilicus [Term] id: HP:0001537 ! Umbilical hernia intersection_of: PATO:0002163 ! herniated into intersection_of: towards FMA:19930 ! Umbilical ring intersection_of: inheres_in_part_of FMA:32413 ! Set of viscera of abdomen [Term] id: HP:0000023 ! Inguinal hernia intersection_of: PATO:0002163! herniated into intersection_of: towards FMA:65075 ! Inguinal ring intersection_of: inheres_in_part_of FMA:7199 ! Intestine [Term] id: HP:0004871 ! Perineal fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9579 ! Perineum intersection_of: towards MPATH:70 ! fistula [Term] id: HP:0100590 ! Rectal fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:14544 ! Rectum intersection_of: towards MPATH:70 ! fistula [Term] id: HP:0000051 ! Perineal hypospadias intersection_of: PATO:0002168 ! displaced to intersection_of: towards FMA:19650 ! External urethral orifice intersection_of: inheres_in FMA:9579 ! Perineum [Term] id: HP:0002036 ! Hiatus hernia intersection_of: PATO:0002163! herniated into intersection_of: towards FMA:58289 ! Esophageal hiatus intersection_of: inheres_in_part_of FMA:7148 ! Stomach [Term] id: HP:0002933 ! Ventral hernia intersection_of: PATO:0002163! herniated into intersection_of: towards FMA:78435 ! Musculature of anterior abdominal wall intersection_of: inheres_in_part_of FMA:32413 ! Set of viscera of abdomen [Term] id: HP:0000776 ! Congenital diaphragmatic hernia intersection_of: PATO:0002163! herniated into intersection_of: towards FMA:7480 ! Rib cage intersection_of: inheres_in_part_of FMA:32413 ! Set of viscera of abdomen [Term] id: HP:0000689 ! Dental malocclusion intersection_of: PATO:0001654 ! misaligned with intersection_of: inheres_in FMA:55634 ! Maxillary dental arcade intersection_of: towards FMA:55635 ! Mandibular dental arcade [Term] id: HP:0002673 ! Coxa valga intersection_of: PATO:0002327 ! increased angle intersection_of: inheres_in FMA:42385 ! Neck of femur intersection_of: towards FMA:32847 ! Diaphysis of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002812 ! Coxa vara intersection_of: PATO:0002328 ! decreased angle intersection_of: inheres_in FMA:42385 ! Neck of femur intersection_of: towards FMA:32847 ! Diaphysis of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010665 ! Bilateral coxa valga intersection_of: HP:0002673 ! Coxa valga intersection_of: qualifier PATO:0000618 ! bilateral [Term] id: HP:0008689 ! Bilateral cryptorchidism intersection_of: HP:0000028 ! Cryptorchidism intersection_of: qualifier PATO:0000618 ! bilateral [Term] id: HP:0002012 ! Abnormality of the abdominal organs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:71132 ! Gastrointestinal tract intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007378 ! Gastrointestinal tract neoplasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0003363 ! Abdominal situs inversus intersection_of: HP:0001696 ! Situs inversus intersection_of: inheres_in_part_of FMA:9577 ! Abdomen [Term] id: HP:0001696 ! Situs inversus intersection_of: PATO:0000625 ! inverted intersection_of: inheres_in_part_of FMA:7149 ! Organ system [Term] id: HP:0002023 ! Anal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:15711 ! Anus [Term] id: HP:0002025 ! Anal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:15703 ! Anal canal [Term] id: HP:0004378 ! Abnormality of the anus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:15711 ! Anus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004921 ! Abnormality of magnesium homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0010960 ! magnesium ion homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004397 ! Ectopic anus intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:15711 ! Anus [Term] id: HP:0009889 ! Localized hirsutism intersection_of: HP:0001007 ! Hirsutism intersection_of: qualifier PATO:0000627 ! localised [Term] id: HP:0011059 ! Localized periodontitis intersection_of: HP:0000165 ! periodontitis intersection_of: qualifier PATO:0000627 ! localised ! TODO: check [Term] id: HP:0001545 ! Anteriorly placed anus intersection_of: PATO:0001821 ! imperforate intersection_of: inheres_in FMA:15711 ! Anus [Term] id: HP:0004303 ! Abnormality of muscle fibers intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9727 ! Skeletal muscle cell intersection_of: qualifier PATO:0000460 ! abnormal ! ***** WORK ON THE musculoskeletal system ********* [Term] id: HP:0000924 ! Abnormality of the skeletal system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23881 ! Skeletal system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002659 ! Increased susceptibility to fractures intersection_of: PATO:0002055 ! increased fragility intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0002756 ! Pathologic fracture intersection_of: HP:0002659 ! Increased susceptibility to fractures intersection_of: qualifier PATO:0001869 ! pathological ![Term] !id: HP:0002757 ! Multiple fractures !intersection_of: HP:0002659 ! Fractures !intersection_of: qualifier PATO:0000470 ! present in greater numbers in organism [Term] id: HP:0000278 ! Retrognathia intersection_of: PATO:0001922 ! mislocalised posteriorly intersection_of: inheres_in FMA:52748 ! Mandible [Term] id: HP:0000308 ! Microretrognathia intersection_of: HP:0000347 ! Micrognathia intersection_of: qualifier PATO:0001922 ! mislocalised posteriorly [Term] id: HP:0005332 ! Recurrent mandibular subluxations intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:52748 ! Mandible intersection_of: qualifier PATO:0000427 ! recurrent ! not sure about this one I am stopping on fracture here (we need to denote tendency)... ![Term] !id: HP:0002757 ! Recurrent fractures !intersection_of: PATO:0000001 ! quality !intersection_of: has_part PATO:0001227 ! variant !intersection_of: has_part HP:0002757 ! Recurrent fractures [Term] id: HP:0002757 ! Recurrent fractures intersection_of: HP:0002659 ! Increased susceptibility to fractures intersection_of: qualifier PATO:0002051 ! increased occurrence ![Term] !id: HP:0003084 ! Fractures of the long bones !intersection_of: HP:0002659 ! Increased susceptibility to fractures !intersection_of: qualifier PATO:0002051 ! increased occurrence [Term] id: HP:0004348 ! Abnormality of bone mineral density intersection_of: PATO:0001019 ! mass density intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0006392 ! Increased density of long bones intersection_of: PATO:0001788 ! increased mass density intersection_of: inheres_in FMA:7474 ! Long bone [Term] id: HP:0004563 ! increased spinal bone density intersection_of: PATO:0001788 ! increased mass density intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0005045 ! diaphyseal cortical sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32678 ! Compact bone of diaphysis [Term] id: HP:0005789 ! Osteosclerosis, diffuse symmetrical intersection_of: HP:0011001 ! Increased bone mineral density intersection_of: qualifier PATO:0000635 ! unlocalised [Term] id: HP:0005686 ! Patchy osteosclerosis intersection_of: HP:0011001 ! Increased bone mineral density intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0005450 ! Calvarial osteosclerosis intersection_of: HP:0011001 ! Increased bone mineral density intersection_of: inheres_in FMA:52800 ! Calvaria [Term] id: HP:0005746 ! Osteosclerosis of calvaria and base of the skull intersection_of: HP:0011001 ! Increased bone mineral density intersection_of: inheres_in _:Basicranium_and_Calvaria [Term] id: HP:0004349 ! Reduced bone mineral density intersection_of: PATO:0001790 ! decreased mass density intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0011001 ! Increased bone mineral density intersection_of: PATO:0001788 ! increased mass density intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0011002 ! osteopetrosis intersection_of: PATO:0001788 ! increased mass density intersection_of: inheres_in FMA:5018 ! Bone organ intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0000938 ! Osteopenia intersection_of: PATO:0001790 ! decreased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0006462 ! Generalized bone demineralization intersection_of: PATO:0001790 ! decreased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23881 ! Skeletal system [Term] id: HP:0001256 ! Mental retardation, mild intersection_of: HP:0001249 ! Mental retardation intersection_of: qualifier PATO:0000394 ! mild ! Example of a complex term - these anonymous terms should really be named classes in HPO - it is the ideal place to ! hold such terms. ! ![Term] !id: _:decreased_osteogenesis !is_anonymous: true !intersection_of: PATO:0001570 ! having decreased processual parts !intersection_of: towards GO:0001503 ! osteogenesis ! ![Term] !id: _:increased_bone_resorption !is_anonymous: true !intersection_of: PATO:0001570 ! having decreased processual parts !intersection_of: towards GO:0045453 ! bone resorption ! !id: _:increased_bone_resorption is a synonym of -> HP:0002797 ! Osteolysis [Term] id: HP:0002797 ! Osteolysis intersection_of: PATO:0001570 ! having decreased processual parts intersection_of: towards GO:0045453 ! bone resorption ![Term] !id: _:increased_bone_resorption_or_:decreased_osteogenesis !is_anonymous: true !union_of: _:increased_bone_resorption !union_of: _:decreased_osteogenesis ! ![Term] !id: HP:0000939 ! Osteoporosis !intersection_of: _:increased_bone_resorption_or_:decreased_osteogenesis !intersection_of: results_in HP:0004349 ! Reduced bone mineral density !intersection_of: results_in HP:0002659 ! Increased susceptibility to fractures ! ! End of example of a complex term !Simplified verison [Term] id: HP:0000939 ! Osteoporosis intersection_of: PATO:0001562 ! decreased mass intersection_of: inheres_in FMA:5018 ! Bone organ intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0005625 ! Osteoporosis of vertebrae intersection_of: HP:0000939 ! Osteoporosis intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: HP:0005653 ! Moderate generalized osteoporosis intersection_of: HP:0000939 ! Osteoporosis intersection_of: qualifier PATO:0000395 ! moderate [Term] id: HP:0005744 ! Generalized osteoporosis with pathologic fractures intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000939 ! Osteoporosis intersection_of: has_part HP:0002756 ! Pathologic fracture [Term] id: HP:0005897 ! Severe osteoporosis intersection_of: HP:0000939 ! Osteoporosis intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0006639 ! Pectus carinatum, severe intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:73103 ! Posterior thoracic wall intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0000917 ! Pectus carinatum superiorly intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:87543 ! Anterior chest wall [Term] id: HP:0007537 ! Severe photosensitivity intersection_of: PATO:0000927 ! photosensitivity intersection_of: inheres_in FMA:12513 ! Eyeball intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0002749 ! Osteomalacia intersection_of: PATO:0001779 ! decreased strength intersection_of: qualifier PATO:0000396 ! severe intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0002763 ! Abnormality of cartilage intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55107 ! Cartilage organ intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009145 ! Abnormalities of the cerebral arteries intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004449 ! cerebral artery intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100026 ! Arteriovenous malformations intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:70 ! fistula intersection_of: inheres_in FMA:50720 ! Artery intersection_of: inheres_in FMA:50723 ! Vein [Term] id: HP:0003103 ! Abnormality of cortical bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24018 ! Compact bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005652 ! Cortical sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:24018 ! Compact bone [Term] id: HP:0000935 ! Thickened cortex of long bones intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:32674 ! Compact bone of long bone [Term] id: HP:0005791 ! Cortical thickening of long bone diaphyses intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in_part_of FMA:32674 ! Compact bone of long bone intersection_of: inheres_in FMA:32678 ! Compact bone of diaphysis [Term] id: HP:0005665 ! Massively thickened long bone cortices intersection_of: PATO:0000591 ! increased thickness intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32674 ! Compact bone of long bone [Term] id: HP:0002753 ! Thin bony cortex intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:24018 ! Compact bone [Term] id: HP:0003011 ! Abnormality of musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32558 ! Musculature intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003557 ! Increased variability in muscle fiber diameter intersection_of: PATO:0001958 ! increased variability of size intersection_of: inheres_in FMA:9727 ! Skeletal muscle cell [Term] id: HP:0100853 ! Hypoplastic areola intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:67796 ! Areola [Term] id: HP:0010666 ! Hypoplasia of the anterior nasal spine intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75770 ! Anterior nasal spine of maxilla [Term] id: HP:0009555 ! Hypoplasia of the pharynx intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:46688 ! Pharynx [Term] id: HP:0100638 ! Neoplasia of the pharynx intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:46688 ! Pharynx intersection_of: towards MPATH:218 ! neoplasm ! ******** Amyotrophy [Term] id: HP:0003202 ! Amyotrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0009049 ! Peroneal muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of _:fibularis_muscles [Term] id: HP:0009054 ! Scapuloperoneal myopathy intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009060 ! Scapular muscle atrophy intersection_of: has_part HP:0009049 ! Peroneal muscle atrophy [Term] id: HP:0009060 ! Scapular muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of _:scapular_muscles [Term] id: HP:0003665 ! Amyotrophy of the musculature of the pelvis intersection_of: HP:0003202 ! Amyotrophy intersection_of: inheres_in_part_of FMA:19086 ! Muscle of pelvis [Term] id: HP:0007210 ! Lower limb hypotrophy intersection_of: PATO:0000585 ! hypotrophic intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0009050 ! Quadriceps muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:46897 ! Muscle fasciculus of quadriceps femoris [Term] id: HP:0008944 ! Distal lower limb muscle weakness and atrophy intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009053 ! Muscle weakness, lower limb, distal intersection_of: has_part HP:0008949 ! Muscle atrophy, lower limb, distal [Term] id: HP:0009129 ! Amyotrophy involving the upper limbs intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:71296 ! Musculature of upper limb [Term] id: HP:0009130 ! Amyotrophy involving the musculature of the hand intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:42368 ! Musculature of hand [Term] id: HP:0009055 ! Generalized limb muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:50188 ! Musculature of limb intersection_of: qualifier PATO:0000635 ! unlocalised [Term] id: HP:0007181 ! Interosseus muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:37417 ! Interosseous muscle of hand [Term] id: HP:0003797 ! Limb-girdle muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in _:limb-girdle_muscle [Term] id: HP:0006785 ! Limb-girdle muscular dystrophy intersection_of: PATO:0001780 ! dystrophic intersection_of: inheres_in _:limb-girdle_muscle [Term] id: HP:0003724 ! Shoulder girdle muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:37347 ! Muscle of pectoral girdle [Term] id: HP:0003693 ! Distal amyotrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in _:distal_limb_muscle [Term] id: HP:0008955 ! Progressive distal muscular atrophy intersection_of: HP:0003693 ! Distal amyotrophy intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0006887 ! Mental retardation, progressive intersection_of: HP:0001249 ! Mental retardation intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0008964 ! Nonprogressive muscular atrophy intersection_of: HP:0003202 ! Amyotrophy intersection_of: qualifier PATO:0002026 ! non-progressive [Term] id: HP:0007269 ! Spinal muscular atrophy intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: towards FMA:83617 ! Motor neuron intersection_of: inheres_in FMA:13478 ! Vertebral column intersection_of: results_in HP:0003202 ! Amyotrophy [Term] id: HP:0009828 ! Peromelia intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: inheres_in FMA:23875 ! Skeleton intersection_of: towards FMA:83015 ! Distal free limb segment [Term] id: HP:0008956 ! Proximal lower limb muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:24967 ! Thigh intersection_of: inheres_in FMA:22470 ! Muscle of thigh [Term] id: HP:0008948 ! Proximal upper limb muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:24890 ! Arm intersection_of: inheres_in FMA:37370 ! Muscle of arm [Term] id: HP:0009067 ! Progressive spinal muscular atrophy intersection_of: HP:0007269 ! Spinal muscular atrophy intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0006959 ! Proximal spinal muscular atrophy intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: towards FMA:83617 ! Motor neuron intersection_of: inheres_in FMA:7647 ! Spinal cord intersection_of: results_in HP:0007126 ! Proximal amyotrophy [Term] id: HP:0100854 ! Aplasia of the musculature intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in_part_of FMA:5022 ! Muscle organ [Term] id: HP:0009044 ! Hypoplasia of deltoid muscle intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32521 ! Deltoid [Term] id: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs union_of: HP:0009016 ! Upper limb muscle hypoplasia union_of: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm union_of: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature [Term] id: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm union_of: HP:0009782 ! Aplasia/Hypoplasia of the biceps union_of: HP:0009784 ! Aplasia/Hypoplasia of the triceps [Term] id: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:50220 ! Musculature of shoulder [Term] id: HP:0008952 ! Shoulder muscle hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:50220 ! Musculature of shoulder [Term] id: HP:0009783 ! Biceps aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:37670 ! Biceps brachii [Term] id: HP:0008211 ! Parathyroid aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:13890 ! Parathyroid gland [Term] id: HP:0010110 ! Aplasia of the phalanges of the hallux intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0009007 ! Hypoplastic biceps intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:37670 ! Biceps brachii [Term] id: HP:0100855 ! Triceps hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:37688 ! Triceps brachii [Term] id: HP:0009785 ! Triceps aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in_part_of FMA:37688 ! Triceps brachii [Term] id: HP:0009016 ! Upper limb muscle hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:71296 ! Musculature of upper limb [Term] id: HP:0009004 ! Muscle hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0008984 ! Neck muscle hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9617 ! Muscle of neck [Term] id: HP:0003634 ! Generalized amyoplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32558 ! Musculature [Term] id: HP:0001290 ! Generalized hypotonia intersection_of: PATO:0001619 ! decreased tonicity intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:72954 ! Muscular system [Term] id: HP:0008936 ! Muscular hypotonia of the trunk intersection_of: PATO:0001619 ! decreased tonicity intersection_of: inheres_in_part_of FMA:50187 ! Musculature of trunk [Term] id: HP:0009051 ! Increased muscle glycogen content intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:5022 ! Muscle organ intersection_of: towards CHEBI:28087 ! glycogen [Term] id: HP:0009058 ! Lipid accumulation in skeletal muscle intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:5022 ! Muscle organ intersection_of: towards CHEBI:18059 ! lipid [Term] id: HP:0003750 ! Increased muscle fatiguability intersection_of: PATO:0001816 ! increased fatigability intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0003712 ! Muscle hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0003720 ! Generalized muscle hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:72954 ! Muscular system [Term] id: HP:0009042 ! Marked muscular hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:5022 ! Muscle organ intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0008968 ! Muscle hypertrophy of the lower extremities intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:9622 ! Muscle of lower limb [Term] id: HP:0003733 ! Thigh hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:22470 ! Muscle of thigh [Term] id: HP:0003552 ! Muscle stiffness intersection_of: PATO:0001545 ! inflexible intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0006921 ! Axial muscle stiffness, symmetric intersection_of: PATO:0001545 ! inflexible intersection_of: inheres_in UBERON:0003897 ! axial muscle intersection_of: qualifier PATO:0000632 ! symmetrical [Term] id: HP:0008969 ! Leg muscle stiffness intersection_of: PATO:0001545 ! inflexible intersection_of: inheres_in_part_of FMA:50211 ! Musculature of leg [Term] id: HP:0007066 ! Proximal limb muscle stiffness intersection_of: PATO:0001545 ! inflexible intersection_of: inheres_in _:proximal_limb_muscle [Term] id: HP:0002460 ! Distal muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in _:distal_muscle [Term] id: HP:0009028 ! Generalized weakness of limb muscles intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:50188 ! Musculature of limb [Term] id: HP:0003327 ! Axial muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in UBERON:0003897 ! axial muscle [Term] id: HP:0001324 ! Muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0008963 ! Tibialis weakness and atrophy intersection_of: HP:0006940 ! Distal muscle weakness and atrophy intersection_of: inheres_in FMA:22532 ! Tibialis anterior [Term] id: HP:0009063 ! Muscle weakness, distal, progressive intersection_of: HP:0002460 ! Distal muscle weakness intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0010628 ! Facial nerve palsy intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in_part_of FMA:46751 ! Muscle of face [Term] id: HP:0004661 ! Frontalis muscle weakness intersection_of: HP:0001324 ! Muscle weakness intersection_of: inheres_in_part_of FMA:46757 ! Frontalis [Term] id: HP:0003324 ! Generalized muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:72954 ! Muscular system [Term] id: HP:0003690 ! Limb muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in_part_of FMA:50188 ! Musculature of limb [Term] id: HP:0007340 ! Lower limb muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:9622 ! Muscle of lower limb ! logical def equiv to 'HP:0007340 ! Lower limb muscle weakness' - need to capture paralysis aspect ![Term] !id: HP:0002385 ! paraparesis !intersection_of: PATO:0001779 ! decreased strength !intersection_of: inheres_in FMA:9622 ! Muscle of lower limb [Term] id: HP:0003325 ! Limb-girdle muscle weakness intersection_of: HP:0001324 ! Muscle weakness intersection_of: inheres_in _:limb-girdle_muscle [Term] id: HP:0009053 ! Muscle weakness, lower limb, distal intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in _:distal_lower_limb_muscle [Term] id: HP:0009073 ! Muscle weakness, progressive, proximal intersection_of: PATO:0001779 ! decreased strength intersection_of: qualifier PATO:0001818 ! progressive intersection_of: inheres_in _:proximal_muscle [Term] id: HP:0003701 ! Proximal muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in _:proximal_muscle [Term] id: HP:0008994 ! Proximal muscle weakness in lower limbs intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in_part_of FMA:71297 ! Musculature of lower limb [Term] id: HP:0008997 ! Proximal muscle weakness in upper limbs intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in_part_of FMA:71296 ! Musculature of upper limb [Term] id: HP:0000467 ! Neck muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:9617 ! Muscle of neck [Term] id: HP:0003749 ! Pelvic girdle muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:50226 ! Musculature of subdivision of pelvic girdle [Term] id: HP:0008988 ! Pelvic girdle muscle atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:50226 ! Musculature of subdivision of pelvic girdle [Term] id: HP:0008946 ! Pelvic girdle weakness and atrophy intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003749 ! Pelvic girdle muscle weakness intersection_of: has_part HP:0008988 ! Pelvic girdle muscle atrophy [Term] id: HP:0003731 ! Quadriceps muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in_part_of FMA:46897 ! Muscle fasciculus of quadriceps femoris [Term] id: HP:0003547 ! Shoulder girdle muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:37347 ! Muscle of pectoral girdle [Term] id: HP:0001465 ! Amyotrophy involving the shoulder musculature intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:50220 ! Musculature of shoulder [Term] id: HP:0001457 ! Abnormality of the musculature of the upper arm intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:50202 ! Musculature of arm intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003808 ! Abnormal muscle tone intersection_of: PATO:0001439 ! tonicity intersection_of: inheres_in FMA:5022 ! Muscle organ intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001445 ! Abnormality of the hip-girdle musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:50227 ! Musculature of hip intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003199 ! Decreased muscle mass intersection_of: PATO:0001562 ! decreased mass intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0003560 ! Muscular dystrophy intersection_of: PATO:0001780 ! dystrophic intersection_of: inheres_in_part_of FMA:32558 ! Musculature [Term] id: HP:0009124 ! Abnormality of adipose tissue intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:20110 ! Adipose tissue intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009126 ! Increased adipose tissue intersection_of: PATO:0001563 ! increased mass intersection_of: inheres_in FMA:20110 ! Adipose tissue [Term] id: HP:0009003 ! Increased subcutaneous truncal adipose tissue intersection_of: PATO:0001563 ! increased mass intersection_of: inheres_in FMA:74315 ! Subcutaneous adipose tissue intersection_of: inheres_in_part_of FMA:7181 ! Trunk [Term] id: HP:0003758 ! Reduced subcutaneous adipose tissue intersection_of: PATO:0001562 ! decreased mass intersection_of: inheres_in FMA:74315 ! Subcutaneous adipose tissue [Term] id: HP:0009002 ! Loss of subcutaneous truncal adipose tissue intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:7181 ! Trunk intersection_of: towards FMA:74315 ! Subcutaneous adipose tissue [Term] id: HP:0007485 ! Absence of subcutaneous fat intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:256135 ! Body intersection_of: towards FMA:74315 ! Subcutaneous adipose tissue [Term] id: HP:0008887 ! Adipose tissue loss intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: inheres_in FMA:256135 ! Body intersection_of: towards FMA:20110 ! Adipose tissue [Term] id: HP:0005995 ! Decreased adipose tissue around neck intersection_of: PATO:0001562 ! decreased mass intersection_of: inheres_in FMA:20110 ! Adipose tissue intersection_of: inheres_in_part_of FMA:7155 ! Neck [Term] id: HP:0003635 ! Loss of subcutaneous adipose tissue in limbs intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: towards FMA:20110 ! Adipose tissue intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0009017 ! Loss of subcutaneous adipose tissue from gluteal region intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: towards FMA:20110 ! Adipose tissue intersection_of: inheres_in FMA:25245 ! Buttock [Term] id: HP:0005320 ! Lack of facial subcutaneous fat intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:20110 ! Adipose tissue intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000969 ! Edema intersection_of: PATO:0001450 ! edematous intersection_of: inheres_in_part_of FMA:256135 ! Body [Term] id: _:neonate is_anonymous: true intersection_of: PATO:0002206 ! neonatal intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0001518 ! Low birth weight intersection_of: PATO:0000001 ! quality intersection_of: has_part PATO:0000582 ! increased weight intersection_of: has_part _:neonate [Term] id: HP:0009025 ! Increased connective tissue intersection_of: PATO:0001563 ! increased mass intersection_of: inheres_in FMA:9640 ! Portion of connective tissue [Term] id: HP:0007430 ! Generalized edema intersection_of: PATO:0001450 ! edematous intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:9637 ! Portion of tissue [Term] id: HP:0005731 ! Cortical irregularity intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:24018 ! Compact bone [Term] id: HP:0009680 ! Irregular epiphysis of the distal phalanx of the thumb intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0100168 ! Fragmented epiphyses intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0009642 ! Broad distal phalanx of the thumb intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009679 ! Fragmentation of the epiphysis of the distal phalanx of the thumb intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009325 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0010151 ! Cone-shaped epiphysis of the 1st metatarsal intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010152 ! Enlarged epiphysis of the 1st metatarsal intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010224 ! Abnormality of the epiphysis of the 4th metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23902 ! Fourth metacarpal bone intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010220 ! Abnormality of the epiphysis of the 2nd metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23900 ! Second metacarpal bone intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010222 ! Abnormality of the epiphysis of the 3rd metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23901 ! Third metacarpal bone intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010226 ! Abnormality of the epiphysis of the 5th metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23903 ! Fifth metacarpal bone intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010229 ! Bracket epiphyses of the phalanges of the hand intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010631 ! Abnormality of the epiphyses of the feet intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25046 ! Toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010929 ! Abnormality of cation homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0055080 ! cation homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010578 ! Bracket epiphyses intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0005616 ! Accelerated skeletal maturation intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in GO:0070977 ! bone maturation intersection_of: has_central_participant FMA:23875 ! Skeleton [Term] id: HP:0003538 ! Increased serum iduronate sulfatase activity intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in GO:0004423 ! iduronate-2-sulfatase activity [Term] id: HP:0002750 ! Delayed skeletal maturation intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0070977 ! bone maturation intersection_of: has_central_participant FMA:23875 ! Skeleton [Term] id: HP:0002375 ! Hypokinesia intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0050881 ! musculoskeletal movement [Term] id: HP:0000824 ! Growth hormone deficiency intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0030252 ! growth hormone secretion [Term] id: HP:0009121 ! Abnormality of the axial skeleton intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:71221 ! Axial skeleton intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002813 ! Abnormality of the extremities intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:71222 ! Appendicular skeleton intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002703 ! Abnormality of skull ossification intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:46565 ! Skull [Term] id: HP:0004331 ! Decreased skull ossification intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:46565 ! Skull [Term] id: HP:0003713 ! Muscle fiber necrosis intersection_of: PATO:0002304 ! increased process quality intersection_of: inheres_in _:skeletal_muscle_cell_death [Term] id: HP:0003155 ! Elevated alkaline phosphatase intersection_of: PATO:0001162 ! increased concentration intersection_of: towards PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme [Term] id: HP:0003282 ! Low alkaline phosphatase intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme [Term] id: HP:0004905 ! Vitamin A deficiency intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CHEBI:45479 ! retinol [Term] id: HP:0100513 ! Vitamin E deficiency intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CHEBI:27013 ! Tocopherol [Term] id: HP:0010682 ! Elevated placental alkaline phosphatase intersection_of: PATO:0001162 ! increased concentration intersection_of: towards PR:000003969 ! alkaline phosphatase, placental type [Term] id: HP:0002147 ! Increased serum creatine kinase intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards IMR:0002602 ! creatine kinase !!! merged_into HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0010688 ! Low placental alkaline phosphatase intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards PR:000003969 ! alkaline phosphatase, placental type [Term] id: HP:0010687 ! Low intestinal alkaline phosphatase intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards PR:000003964 ! intestinal alkaline phosphatase [Term] id: HP:0010681 ! Elevated intestinal alkaline phosphatase intersection_of: PATO:0001162 ! increased concentration intersection_of: towards PR:000003964 ! intestinal alkaline phosphatase [Term] id: HP:0004379 ! Abnormality of alkaline phosphatase activity intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in _:alkaline_phosphatase_metabolism ![Term] !id: HP:0004340 ! Abnormality of vitamin B metabolism !intersection_of: PATO:0000001 ! quality !intersection_of: qualifier PATO:0000460 ! abnormal !intersection_of: inheres_in GO:0006766 ! vitamin metabolic process [Term] id: HP:0004341 ! Abnormality of the vitamin B12 metabolism intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0009235 ! cobalamin metabolic process [Term] id: HP:0003233 ! Decreased circulating high-density lipoprotein cholesterol intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:47775 ! high-density lipoprotein cholesterol [Term] id: HP:0003145 ! Decreased adenosylcobalamin (ADOCBL) intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CHEBI:18408 ! adenosylcobalamin [Term] id: HP:0003223 ! Decreased methylcobalamin (MECBL) intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CHEBI:28115 ! methylcobalamin [Term] id: HP:0003362 ! Increased circulating very-low-density lipoprotein cholesterol intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:47773 ! very-low-density lipoprotein cholesterol [Term] id: HP:0003141 ! Hyperbetalipoproteinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:47774 ! low-density lipoprotein cholesterol/_:fatty_acid_anion_metabolism [Term] id: HP:0005623 ! Absent ossification of skull vault intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:53672 ! Neurocranium [Term] id: HP:0008087 ! Nonossified fifth metatarsal intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0001503 ! ossification intersection_of: inheres_in FMA:24506 ! Fifth metatarsal bone [Term] id: HP:0000458 ! Anosmia intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0007608 ! sensory perception of smell [Term] id: HP:0000871 ! Panhypopituitarism intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in FMA:256135 ! Body intersection_of: towards _:adenohypophysis_process [Term] id: HP:0001338 ! Partial agenesis of the corpus callosum intersection_of: PATO:0000297 ! arrested intersection_of: inheres_in _:corpus_callosum_development [Term] id: _:corpus_callosum_development is_anonymous: true intersection_of: GO:0048513 ! organ development intersection_of: has_central_participant FMA:86464 ! Corpus callosum [Term] id: HP:0002374 ! Diminished movement intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0050881 ! musculoskeletal movement [Term] id: HP:0004606 ! Unossified vertebral bodies intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0001503 ! ossification intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0100856 ! Poorly ossified vertebrae intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:11945 ! Body of vertebra [Term] id: HP:0004599 ! Absent or minimally ossified vertebral bodies union_of: HP:0004606 ! Unossified vertebral bodies union_of: HP:0100856 ! Poorly ossified vertebrae [Term] id: HP:0005451 ! Decreased cranial base ossification intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:52801 ! Basicranium [Term] id: HP:0005474 ! Poorly ossified calvaria intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:52800 ! Calvaria !these terms were merged but is it correct (ossification vs mineralization) ![Term] !id: HP:0005474 ! Undermineralized calvarium !intersection_of: PATO:0002302 ! decreased process quality !intersection_of: inheres_in GO:0030282 ! bone mineralization !intersection_of: has_central_participant FMA:52800 ! calvaria [Term] id: HP:0002684 ! Thickened calvaria intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:52800 ! Calvaria [Term] id: HP:0004330 ! Increased skull ossification intersection_of: PATO:0002304 ! increased process quality intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:46565 ! Skull [Term] id: HP:0000250 ! Dense calvaria intersection_of: PATO:0001788 ! increased mass density intersection_of: inheres_in FMA:52800 ! Calvaria [Term] id: HP:0004437 ! Cranial hyperostosis intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in_part_of FMA:46565 ! Skull [Term] id: HP:0004490 ! Calvarial hyperostosis intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:52800 ! Calvaria ! See https://sourceforge.net/tracker/?func=detail&aid=3589483&group_id=76834&atid=1112722 ![Term] !id: HP:0004493 ! Craniofacial hyperostosis !intersection_of: PATO:0000584 ! hypertrophic !intersection_of: inheres_in FMA:53673 ! viscerocranium [Term] id: HP:0005465 ! Hyperostosis of facial bones intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:53673 ! Viscerocranium [Term] id: HP:0004438 ! Hyperostosis frontalis interna intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:52856 ! Internal surface of frontal bone [Term] id: HP:0005890 ! Hyperostosis cranialis interna intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:53128 ! Internal surface of cranial base [Term] id: HP:0005464 ! Craniofacial hyperostosis and sclerosis intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004493 ! Craniofacial hyperostosis intersection_of: has_part _:craniofacial_sclerosis [Term] id: HP:0002682 ! Broad skull intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:46565 ! Skull [Term] id: HP:0000248 ! Brachycephaly intersection_of: PATO:0002042 ! decreased anterior-posterior diameter intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0000267 ! Cranial asymmetry intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in_part_of FMA:46565 ! Skull [Term] id: HP:0002536 ! Abnormal cortical gyration intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in_part_of FMA:83874 ! Gyrus of neuraxis [Term] id: HP:0004484 ! Craniofacial asymmetry intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:53673 ! Viscerocranium [Term] id: HP:0002678 ! Skull asymmetry intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:46565 ! Skull [Term] id: HP:0000929 ! Abnormality of the skull intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:46565 ! Skull intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001362 ! Skull defect intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0001503 ! ossification intersection_of: inheres_in_part_of FMA:46565 ! Skull [Term] id: HP:0002033 ! Poor suck intersection_of: PATO:0000001 ! quality intersection_of: inheres_in NBO:0000054 ! suckling behavior intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004440 ! Coronal craniosynostosis intersection_of: HP:0001363 ! Craniosynostosis intersection_of: inheres_in FMA:52928 ! Coronal suture [Term] id: HP:0004443 ! Lambdoidal craniosynostosis intersection_of: HP:0001363 ! Craniosynostosis intersection_of: inheres_in FMA:52933 ! Lambdoid suture [Term] id: HP:0004442 ! sagittal craniosynostosis intersection_of: HP:0001363 ! Craniosynostosis intersection_of: inheres_in FMA:52929 ! Sagittal suture [Term] id: HP:0005469 ! Flat occiput intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:52735 ! Occipital bone [Term] id: HP:0001763 ! Pes planus intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:75030 ! Longitudinal arch of foot [Term] id: HP:0004002 ! Flattened radial epiphyses intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:33770 ! Epiphysis of radius [Term] id: HP:0005004 ! Flattened proximal radial epiphyses intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:39780 ! Proximal epiphysis of radius [Term] id: HP:0004425 ! Flattened forehead intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0005013 ! Dysplastic distal radial epiphyses intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:33776 ! Distal epiphysis of radius [Term] id: HP:0000240 ! Abnormality of skull size intersection_of: PATO:0000117 ! size intersection_of: inheres_in FMA:46565 ! Skull intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000256 ! Macrocephaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0004482 ! Relative macrocephaly intersection_of: HP:0000256 ! Macrocephaly intersection_of: qualifier PATO:0000394 ! mild [Term] id: HP:0003211 ! Mildly increased serum creatine kinase intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000394 ! mild intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards IMR:0002602 ! creatine kinase !!! merged_into HP:0008180 ! Mildly elevated creatine phosphokinase [Term] id: HP:0004481 ! Macrocephaly, progressive intersection_of: PATO:0000586 ! increased size intersection_of: qualifier PATO:0001818 ! progressive intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0000252 ! Microcephaly intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0000253 ! Microcephaly, progressive intersection_of: PATO:0000587 ! decreased size intersection_of: qualifier PATO:0001818 ! progressive intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0000241 ! Deceleration of head growth intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0035265 ! organ growth intersection_of: has_central_participant FMA:7154 ! Head !!! merged_into HP:0005484 ! Postnatal microcephaly [Term] id: HP:0002683 ! Abnormality of the calvarium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:52800 ! Calvaria intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000236 ! Abnormality of the anterior fontanelle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:75439 ! Anterior fontanelle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000237 ! Small anterior fontanelle intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:75439 ! Anterior fontanelle [Term] id: HP:0001476 ! Delayed closure of the anterior fontanelle intersection_of: PATO:0002135 ! delayed closure intersection_of: inheres_in FMA:75439 ! Anterior fontanelle [Term] id: HP:0009683 ! Small epiphysis of the distal phalanx of the thumb intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0000260 ! Wide anterior fontanel intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75439 ! Anterior fontanelle [Term] id: HP:0002389 ! Cavum septum pellucidum intersection_of: PATO:0000651 ! unfused from intersection_of: inheres_in FMA:62472 ! Lamina of septum pellucidum intersection_of: towards FMA:62472 ! Lamina of septum pellucidum [Term] id: HP:0005556 ! Abnormality of the metopic suture intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:52989 ! Frontal suture intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005487 ! Prominent metopic suture intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:52989 ! Frontal suture [Term] id: HP:0000239 ! Large fontanelles intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:75438 ! Fontanelle [Term] id: HP:0000270 ! Delayed closure of fontanelles intersection_of: PATO:0002135 ! delayed closure intersection_of: inheres_in FMA:75438 ! Fontanelle [Term] id: HP:0005458 ! Obliterated fontanelles intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:75438 ! Fontanelle intersection_of: inheres_in FMA:52800 ! Calvaria [Term] id: HP:0004491 ! Large posterior fontanelle intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:75440 ! Posterior fontanelle [Term] id: HP:0005441 ! Sclerotic cranial sutures intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:7493 ! Suture [Term] id: HP:0003991 ! Osteosclerosis of the ulna intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0005486 ! Small fontanelles intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:75438 ! Fontanelle [Term] id: HP:0005442 ! Widely patent coronal suture intersection_of: PATO:0000610 ! open intersection_of: inheres_in FMA:52928 ! Coronal suture [Term] id: HP:0005476 ! Widely patent sagittal suture intersection_of: PATO:0000610 ! open intersection_of: inheres_in FMA:52929 ! Sagittal suture [Term] id: HP:0002696 ! Abnormality of the parietal bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9613 ! Parietal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000242 ! Parietal bossing intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:9613 ! Parietal bone [Term] id: HP:0002699 ! Abnormality of the foramen magnum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:75306 ! Foramen magnum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002700 ! Large foramen magnum intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:75306 ! Foramen magnum [Term] id: HP:0002677 ! Small foramen magnum intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:75306 ! Foramen magnum [Term] id: HP:0005468 ! Foramen magnum stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:75306 ! Foramen magnum [Term] id: HP:0000692 ! Misalignment of teeth intersection_of: PATO:0001654 ! misaligned with intersection_of: inheres_in FMA:54396 ! Jaw intersection_of: towards FMA:12516 ! Tooth [Term] id: HP:0010876 ! Abnormality of circulating protein level intersection_of: PATO:0000033 ! concentration of intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16541 ! protein intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011042 ! Abnormality of potassium homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: towards CHEBI:29103 ! potassium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000277 ! Abnormality of the mandible intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:52748 ! Mandible intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011004 ! Abnormality of the systemic arterial tree intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:49894 ! Systemic arterial tree intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000347 ! Micrognathia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:52748 ! Mandible [Term] id: HP:0100627 ! Displacement of the external urethral meatus intersection_of: PATO:0002181 ! displaced intersection_of: inheres_in FMA:19650 ! External urethral orifice [Term] id: HP:0006386 ! Hypoplastic distal radial epiphyses intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:33776 ! Distal epiphysis of radius [Term] id: HP:0003778 ! Short mandibular rami intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:52828 ! Ramus of mandible [Term] id: HP:0005790 ! Short mandibular condyles intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:52836 ! Condylar process of mandible [Term] id: HP:0007627 ! Mandibular condyle aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:52836 ! Condylar process of mandible [Term] id: HP:0007628 ! Mandibular condyle hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:52836 ! Condylar process of mandible [Term] id: HP:0000326 ! Abnormality of the maxilla intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9711 ! Maxilla intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009117 ! Aplasia/Hypoplasia of the maxilla union_of: HP:0000327 ! Maxillary hypoplasia union_of: HP:0010661 ! Aplasia of the maxilla [Term] id: HP:0000327 ! Hypoplasia of the maxilla intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9711 ! Maxilla [Term] id: HP:0010667 ! Aplasia of the maxilla intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:9711 ! Maxilla [Term] id: HP:0010669 ! Hypoplasia of the zygomatic bone intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:52747 ! Zygomatic bone [Term] id: HP:0000272 ! Malar hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:53120 ! Zygomatic arch [Term] id: HP:0005439 ! Maxillozygomatic hypoplasia intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000327 ! Hypoplasia of the maxilla intersection_of: has_part HP:0010669 ! Hypoplasia of the zygomatic bone [Term] id: HP:0004689 ! short fourth metatarsals intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:24505 ! Fourth metatarsal bone [Term] id: HP:0010673 ! Hypoplasia of the 3rd metatarsal bone intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:24504 ! Third metatarsal bone [Term] id: HP:0004704 ! short 4th and 5th metatarsals intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010671 ! Hypoplasia of the fifth metatarsal bone intersection_of: has_part HP:0004689 ! short fourth metatarsals [Term] id: HP:0004686 ! short third, fourth, fifth metatarsals intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004704 ! short 4th and 5th metatarsals intersection_of: has_part HP:0010673 ! Hypoplasia of the 3rd metatarsal bone [Term] id: HP:0002010 ! Narrow maxilla intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:9711 ! Maxilla [Term] id: HP:0000264 ! Abnormality of the mastoid intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:52872 ! Mastoid process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000265 ! Mastoiditis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:52872 ! Mastoid process [Term] id: HP:0001878 ! Hemolytic anemia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:198 ! immune mediated hemolytic anaemia [Term] id: HP:0007291 ! Posterior fossa cysts intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:54368 ! Posterior cranial fossa intersection_of: towards MPATH:62 ! cyst [Term] id: HP:0004944 ! Cerebral aneurysm intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in UBERON:0004449 ! cerebral artery intersection_of: towards MPATH:90 ! aneurysm [Term] id: HP:0007201 ! Cerebral artery atherosclerosis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in UBERON:0004449 ! cerebral artery intersection_of: towards MPATH:28 ! atherosclerosis [Term] id: HP:0000316 ! Hypertelorism intersection_of: PATO:0000374 ! increased distance intersection_of: inheres_in FMA:54450 ! Left eye intersection_of: towards FMA:54449 ! Right eye [Term] id: HP:0000506 ! Telecanthus intersection_of: PATO:0000374 ! increased distance intersection_of: inheres_in FMA:59323 ! Medial angle of right eye intersection_of: towards FMA:59324 ! Medial angle of left eye [Term] id: HP:0003260 ! Hydroxyprolinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:18095 ! hydroxyproline [Term] id: HP:0002160 ! Hyperhomocystinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17485 ! homocystine [Term] id: HP:0003108 ! Hyperglycinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:15428 ! glycine [Term] id: HP:0003080 ! Hydroxyprolinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:18240 ! 4-hydroxy-L-proline [Term] id: HP:0006610 ! Wide intermamillary distance intersection_of: PATO:0000374 ! increased distance intersection_of: inheres_in FMA:223695 ! Left nipple intersection_of: towards FMA:223693 ! Right nipple [Term] id: HP:0001566 ! Widely-spaced maxillary central incisors intersection_of: PATO:0000374 ! increased distance intersection_of: inheres_in FMA:55682 ! Left upper central secondary incisor tooth intersection_of: towards FMA:55681 ! Right upper central secondary incisor tooth [Term] id: HP:0000601 ! Hypotelorism intersection_of: PATO:0000375 ! decreased distance intersection_of: inheres_in FMA:54450 ! Left eye intersection_of: towards FMA:54449 ! Right eye [Term] id: HP:0006809 ! Posterior fossa malformations intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:54368 ! Posterior cranial fossa !!! merged_into HP:0001305 ! Dandy-Walker malformation [Term] id: HP:0005759! Small flat posterior fossa intersection_of: PATO:0000001 ! quality intersection_of: has_part PATO:0000587 ! decreased size intersection_of: has_part _:flat_posterior_fossa [Term] id: HP:0005445 ! Widened posterior fossa intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:54368 ! Posterior cranial fossa [Term] id: HP:0002679 ! Abnormality of the sella turcica intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54709 ! Sella turcica intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002681 ! Deformed sella turcica intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:54709 ! Sella turcica [Term] id: HP:0005463 ! Elongated sella turcica intersection_of: PATO:0001154 ! elongated intersection_of: inheres_in FMA:54709 ! Sella turcica [Term] id: HP:0002690 ! Large sella turcica intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:54709 ! Sella turcica [Term] id: HP:0100857 ! Flat sella turcica intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:54709 ! Sella turcica [Term] id: HP:0000245 ! Abnormality of the sinuses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59679 ! Paranasal sinus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002687 ! Abnormality of the frontal sinuses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:57417 ! Frontal sinus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses union_of: HP:0002688 ! Absent frontal sinuses union_of: HP:0002738 ! Hypoplastic frontal sinuses [Term] id: HP:0002688 ! Absent frontal sinuses intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:46565 ! Skull intersection_of: towards FMA:57417 ! Frontal sinus [Term] id: HP:0005456 ! Absent frontal and ethmoidal sinuses intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards _:ethmoidal_and_frontal_sinus intersection_of: inheres_in FMA:46565 ! Skull [Term] id: HP:0002738 ! Hypoplastic frontal sinuses intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:57417 ! Frontal sinus [Term] id: HP:0005453 ! Absent/hypoplastic paranasal sinuses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0006784 ! Paranasal sinus hypoplasia intersection_of: has_part HP:0002689 ! Absent paranasal sinuses [Term] id: HP:0006784 ! Paranasal sinus hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:59679 ! Paranasal sinus [Term] id: HP:0005478 ! Prominent frontal sinuses intersection_of: PATO:0001482 ! prominent intersection_of: towards FMA:57417 ! Frontal sinus [Term] id: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:51235 ! Sinus [Term] id: HP:0002689 ! Absent paranasal sinuses intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:59679 ! Paranasal sinus ![Term] !id: HP:0002689 ! Absent paranasal sinuses !is_anonymous: true !intersection_of: PATO:0002000 ! lacking physical part !intersection_of: towards FMA:59679 ! paranasal sinus [Term] id: HP:0000246 ! Sinusitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:51235 ! Sinus [Term] id: HP:0000255 ! Acute sinusitis intersection_of: HP:0000246 ! Sinusitis intersection_of: qualifier PATO:0000389 ! acute [Term] id: HP:0002693 ! Abnormality of the skull base intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:52801 ! Basicranium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002694 ! Sclerotic skull base intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:52801 ! Basicranium [Term] id: HP:0005477 ! Progressive sclerosis of skull base intersection_of: PATO:0001818 ! progressive intersection_of: inheres_in MPATH:184 ! sclerosis intersection_of: has_central_participant FMA:52801 ! Basicranium [Term] id: HP:0002737 ! Thick skull base intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in_part_of FMA:52801 ! Basicranium [Term] id: HP:0002084 ! Encephalocele intersection_of: PATO:0001646 ! protruding out of intersection_of: inheres_in_part_of FMA:50801 ! Brain intersection_of: inheres_in FMA:9637 ! Portion of tissue intersection_of: towards FMA:46565 ! Skull [Term] id: HP:0004478 ! ethmoidal encephalocele intersection_of: PATO:0001646 ! protruding out of intersection_of: inheres_in_part_of FMA:50801 ! Brain intersection_of: inheres_in FMA:9637 ! Portion of tissue intersection_of: towards FMA:52740 ! Ethmoid [Term] id: HP:0007330 ! Frontal encephalocele intersection_of: PATO:0001646 ! protruding out of intersection_of: inheres_in_part_of FMA:50801 ! Brain intersection_of: inheres_in FMA:9637 ! Portion of tissue intersection_of: towards FMA:52734 ! Frontal bone [Term] id: HP:0000269 ! Prominent occiput intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:52735 ! Occipital bone [Term] id: HP:0000152 ! Abnormality of head and neck intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000234 ! Abnormality of the head intersection_of: has_part HP:0000464 ! Abnormality of the neck [Term] id: HP:0002085 ! Occipital encephalocele intersection_of: PATO:0001646 ! protruding out of intersection_of: inheres_in_part_of FMA:50801 ! Brain intersection_of: inheres_in FMA:9637 ! Portion of tissue intersection_of: towards FMA:52735 ! Occipital bone [Term] id: HP:0006888 ! Meningoencephalocele intersection_of: PATO:0001646 ! protruding out of intersection_of: inheres_in FMA:9589 ! Meninx intersection_of: towards FMA:46565 ! Skull [Term] id: HP:0000765 ! Abnormality of the thorax intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9576 ! Thorax intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100625 ! Enlarged thorax intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0005607 ! Abnormality of the tracheobronchial system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of UBERON:0004102 ! tracheobronchial system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100552 ! Neoplasia of the tracheobronchial system intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in UBERON:0004102 ! tracheobronchial system intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0002109 ! Abnormality of the bronchi intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7409 ! Bronchus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010777 ! Bronchomegaly intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:7409 ! Bronchus [Term] id: HP:0010778 ! Tracheomegaly intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:7394 ! Trachea [Term] id: HP:0100528 ! Pleuropulmonary blastoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:262 ! pulmonary blastoma [Term] id: HP:0100551 ! Neoplasia of the trachea intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7394 ! Trachea intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0010776 ! Tracheobronchmegaly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010777 ! Bronchomegaly intersection_of: has_part HP:0010778 ! Tracheomegaly [Term] id: HP:0002636 ! Aneurysm of an abdominal artery intersection_of: PATO:0002093 ! ballooning intersection_of: inheres_in UBERON:0012254 ! abdominal aorta artery [Term] id: HP:0100858 ! Celiac artery aneurysm intersection_of: PATO:0002093 ! ballooning intersection_of: inheres_in FMA:50737 ! Celiac artery [Term] id: HP:0100859 ! Superior mesenteric artery aneurysm intersection_of: PATO:0002093 ! ballooning intersection_of: inheres_in FMA:14749 ! Superior mesenteric artery [Term] id: HP:0100860 ! Inferior mesenteric artery aneurysm intersection_of: PATO:0002093 ! ballooning intersection_of: inheres_in FMA:14750 ! Inferior mesenteric artery [Term] id: HP:0000769 ! Abnormality of the breast intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9601 ! Breast intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004404 ! Abnormality of the nipple intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:67771 ! Nipple intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006709 ! Aplasia/Hypoplasia of the nipples union_of: HP:0002561 ! absent nipples union_of: HP:0002557 ! hypoplastic nipples [Term] id: HP:0002561 ! Absent nipples intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:67771 ! Nipple [Term] id: HP:0002557 ! Hypoplastic nipples intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:67771 ! Nipple [Term] id: HP:0003186 ! Inverted nipples intersection_of: PATO:0000625 ! inverted intersection_of: inheres_in FMA:67771 ! Nipple [Term] id: HP:0002562 ! Low-set nipples intersection_of: PATO:0001476 ! decreased position intersection_of: inheres_in FMA:67771 ! Nipple [Term] id: HP:0004405 ! Prominent nipples intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:67771 ! Nipple [Term] id: HP:0002558 ! Supernumerary nipples intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:67771 ! Nipple [Term] id: HP:0000771 ! Gynecomastia intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:19901 ! Male breast intersection_of: inheres_in FMA:62088 ! Lactiferous gland [Term] id: HP:0000889 ! Abnormality of the clavicles intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:13321 ! Clavicle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010560 ! Undulate clavicles intersection_of: PATO:0000967 ! undulate intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: HP:0006710 ! Aplasia/Hypoplasia of the clavicles union_of: HP:0000898 ! hypoplastic clavicles union_of: HP:0006660 ! aplastic clavicles [Term] id: HP:0006660 ! Aplastic clavicles intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: HP:0009939 ! Mandibular aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:52748 ! Mandible ![Term] !id: HP:0006638 ! Midclavicular aplasia !intersection_of: PATO:0001483 ! aplastic !intersection_of: inheres_in FMA:20251 ! MIdclavicular line ![Term] !id: HP:0006608 ! Midclavicular hypoplasia !intersection_of: PATO:0000645 ! hypoplastic !intersection_of: inheres_in FMA:20251 ! MIdclavicular line [Term] id: HP:0000894 ! Short clavicles intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: HP:0000916 ! Broad clavicles intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: HP:0000890 ! Long clavicles intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: HP:0006645 ! Thin, long clavicles intersection_of: PATO:0000001 ! quality intersection_of: has_part _:thin_clavicles intersection_of: has_part HP:0000890 ! Long clavicles [Term] id: HP:0000775 ! Abnormality of the diaphragm intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:13295 ! Diaphragm intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008986 ! Agenesis of the diaphragm intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:13295 ! Diaphragm [Term] id: HP:0001274 ! Agenesis of corpus callosum intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:86464 ! Corpus callosum ! or [same applies for HP:0008986 and other agenesis] ![Term] !id: HP:0001274 ! agenesis of corpus callosum !intersection_of: PATO:0002019 ! aplastic growth !intersection_of: inheres_in FMA:86464 ! corpus callosum [Term] id: HP:0002335 ! Agenesis of cerebellar vermis intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:76928 ! Vermis of cerebellum [Term] id: HP:0005311 ! Agenesis of pulmonary vessels intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:23400 ! Lateral lip of right bicipital groove [Term] id: HP:0010760 ! Absent toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:25047 ! Big toe [Term] id: HP:0001841 ! Preaxial polydactyly (feet) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:25047 ! Big toe intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0010112 ! Central polydactyly (feet) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:25046 ! Toe intersection_of: towards _:second_third_or_fourth_toes [Term] id: HP:0010055 ! Broad hallux intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:25047 ! Big toe [Term] id: HP:0001861 ! Short, broad hallux intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010055 ! Broad hallux intersection_of: has_part HP:0010109 ! Hypoplastic/small hallux [Term] id: HP:0001847 ! Long hallux intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:25047 ! Big toe [Term] id: HP:0010101 ! Partial duplication of the phalanges of the hallux intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0003316 ! Butterfly vertebrae intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: HP:0005580 ! Duplication of renal pelvis intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:15575 ! Renal pelvis [Term] id: HP:0010100 ! Complete duplication of the phalanges of the hallux intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32884 ! Phalanx of big toe [Term] id: HP:0010066 ! Partial/complete duplication of the phalanges of the hallux union_of: HP:0010100 ! Complete duplication of the phalanges of the hallux union_of: HP:0010101 ! Partial duplication of the phalanges of the hallux [Term] id: HP:0009113 ! Diaphragmatic weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:13295 ! Diaphragm [Term] id: HP:0006597 ! Diaphragmatic paralysis intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in FMA:13295 ! Diaphragm [Term] id: HP:0003470 ! paralysis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000032 ! paralysis [Term] id: HP:0001555 ! Asymmetry of the thorax intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0000886 ! Deformed rib cage intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:7480 ! Rib cage [Term] id: HP:0001547 ! Abnormality of the morphology or size of the rib cage intersection_of: PATO:0000051 ! morphology intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:7480 ! Rib cage [Term] id: HP:0001347 ! Hyperreflexia intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in GO:0060004 ! reflex [Term] id: HP:0010993 ! Abnormality of the cerebral subcortex intersection_of: PATO:0000051 ! morphology intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:242188 ! Cerebral subcortex [Term] id: HP:0002260 ! Craniofacial dysmorphism intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:53673 ! Viscerocranium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005255 ! Absence of pectoralis minor muscle intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:39169 ! Muscle fasciculus of pectoralis minor [Term] id: HP:0005256 ! Unilateral hypoplasia or absence of pectoralis major muscle intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:38946 ! Muscle fasciculus of pectoralis major intersection_of: qualifier PATO:0000634 ! unilateral [Term] id: HP:0001552 ! Barrel-shaped chest intersection_of: PATO:0001898 ! increased circumference intersection_of: inheres_in FMA:24816 ! Anterior chest [Term] id: HP:0000774 ! Narrow chest intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:24816 ! Anterior chest [Term] id: HP:0001524 ! Short trunk intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:7181 ! Trunk !!! merged_into HP:0003521 ! Disproportionate short-trunk short stature [Term] id: HP:0006644 ! Thoracic dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0006533 ! Bronchodysplasia, mild intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in_part_of FMA:7409 ! Bronchus [Term] id: HP:0005257 ! Thoracic hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0001320 ! Cerebellar vermis hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:76928 ! Vermis of cerebellum [Term] id: HP:0009131 ! Abnormality of the musculature of the thorax intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:71293 ! Musculature of thorax intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009026 ! Hypoplasia of latissimus dorsi muscle intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:39178 ! Muscle fasciculus of latissimus dorsi [Term] id: HP:0009011 ! Hypoplasia of serratus anterior muscle intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:13397 ! Serratus anterior [Term] id: HP:0003348 ! Hyperalaninemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16449 ! alanine [Term] id: HP:0008953 ! Pectoralis major muscle hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:38946 ! Muscle fasciculus of pectoralis major [Term] id: HP:0000772 ! Abnormality of the ribs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7574 ! Rib intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006601 ! Anteriorly splayed ribs intersection_of: PATO:0002154 ! splayed ventral intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0002154 ! Hyperglycinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:15428 ! glycine [Term] id: HP:0010561 ! Undulate ribs intersection_of: PATO:0000967 ! undulate intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0000919 ! Abnormalities of the costochondral junction intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7956 ! Costochondral joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000920 ! Enlargement of the costochondral junction intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7956 ! Costochondral joint ![Term] !id: HP:0010229 ! Bracket epiphyses of the phalanges of the hand !intersection_of: PATO:0002142 ! bracket !intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005924 ! Abnormality of the epiphyses of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9666 ! Finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006606 ! Irregular chondrocostal junctions intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:7956 ! Costochondral joint [Term] id: HP:0006712 ! Aplasia/Hypoplasia of the ribs union_of: HP:0000921 ! absent ribs union_of: HP:0000908 ! hypoplastic ribs [Term] id: HP:0000908 ! Hypoplastic ribs intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0006657 ! Hypoplasia of first ribs intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7597 ! First rib [Term] id: HP:0000773 ! Short ribs intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0006668 ! Twelfth rib hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:8515 ! Twelfth rib [Term] id: HP:0006636 ! Hypoplastic or missing ribs union_of: HP:0000908 ! hypoplastic ribs union_of: HP:0000921 ! Missing ribs [Term] id: HP:0000885 ! Broad ribs intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0000888 ! Short, horizontal ribs intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000773 ! Short ribs intersection_of: has_part _:horizontal_rib [Term] id: _:horizontal_rib is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0000883 ! Thin ribs intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0000892 ! Bifid ribs intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0006640 ! Multiple rib fractures intersection_of: HP:0002757 ! Recurrent fractures intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0006641 ! Prominent floating ribs intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:7595 ! Floating rib [Term] id: HP:0000902 ! Rib fusion intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:7574 ! Rib intersection_of: towards FMA:7574 ! Rib [Term] id: HP:0004012 ! Premature fusion of the radial epiphyseal plates intersection_of: PATO:0000642 ! fused with intersection_of: towards FMA:34354 ! Epiphyseal plate of radius [Term] id: HP:0005815 ! Supernumerary ribs intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:7574 ! Rib [Term] id: HP:0000900 ! Thickened ribs intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0000782 ! Abnormality of the scapulae intersection_of: PATO:0000051 ! morphology intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:13394 ! Scapula ! commented out due to email from nick 15/3/2011 ![Term] !id: HP:0005344 ! Abnormality of the carotid arteries !intersection_of: PATO:0000051 ! morphology !intersection_of: qualifier PATO:0000460 ! abnormal !intersection_of: inheres_in FMA:3939 ! Common carotid artery [Term] id: HP:0000882 ! Hypoplastic scapulae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:13394 ! Scapula [Term] id: HP:0010317 ! Scapular aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:13394 ! Scapula [Term] id: HP:0000047 ! Hypospadias intersection_of: PATO:0002168 ! displaced to intersection_of: towards FMA:19650 ! External urethral orifice [Term] id: HP:0000906 ! Short scapulae intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:13394 ! Scapula [Term] id: HP:0006584 ! Small abnormally formed scapulae intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000906 ! Short scapulae intersection_of: has_part HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0000911 ! Flat glenoid fossa intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:23275 ! Glenoid fossa [Term] id: HP:0006632 ! Hypoplastic glenoid fossa intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23275 ! Glenoid fossa [Term] id: HP:0006591 ! Flat or absent glenoid fossae union_of: _:absent_glenoid_fossa union_of: HP:0000911 ! flat glenoid fossa [Term] id: _:absent_glenoid_fossa is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:23275 ! Glenoid fossa [Term] id: HP:0001474 ! Sclerotic scapulae intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:23275 ! Glenoid fossa [Term] id: HP:0004007 ! Sclerotic radial epiphyses intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:33770 ! Epiphysis of radius [Term] id: HP:0003043 ! Abnormality of the shoulder intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25202 ! Shoulder intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001556 ! Sloping shoulders intersection_of: PATO:0002143 ! sloped downward intersection_of: inheres_in FMA:25202 ! Shoulder [Term] id: HP:0004008 ! Sloping radial epiphyses intersection_of: PATO:0002143 ! sloped downward intersection_of: inheres_in FMA:33770 ! Epiphysis of radius [Term] id: HP:0000494 ! Downward slanting palpebral fissures intersection_of: PATO:0002143 ! sloped downward intersection_of: inheres_in FMA:59110 ! Palpebral fissure [Term] id: HP:0006633 ! Glenoid hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:63543 ! Glenoid part of scapula [Term] id: HP:0003044 ! Shoulder contractures intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:25202 ! Shoulder [Term] id: HP:0003834 ! Shoulder dislocation intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:25202 ! Shoulder [Term] id: HP:0000766 ! Abnormality of the sternum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7485 ! Sternum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:77169 ! Thoracic skeleton [Term] id: HP:0006714 ! Aplasia/Hypoplasia of the sternum intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:7485 ! Sternum [Term] id: HP:0006654 ! Absent sternal mineralization intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0031214 ! biomineral formation intersection_of: inheres_in FMA:7485 ! Sternum [Term] id: HP:0006628 ! Absent sternal ossification intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0001503 ! ossification intersection_of: inheres_in FMA:7485 ! Sternum [Term] id: HP:0000879 ! Short sternum intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:7485 ! Sternum [Term] id: HP:0006611 ! Decreased number of sternal ossification centers intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards FMA:7543 ! Facet of manubrium for right second costal cartilage intersection_of: inheres_in FMA:7485 ! Sternum [Term] id: HP:0001876 ! pancytopenia intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards _:white_and_red_blood_cell_and_platelet [Term] id: HP:0011037 ! Decreased urine output intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0060073 ! micturition [Term] id: HP:0006643 ! Fused sternal ossification centers intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:7543 ! Facet of manubrium for right second costal cartilage intersection_of: inheres_in_part_of FMA:7485 ! Sternum intersection_of: towards FMA:7543 ! Facet of manubrium for right second costal cartilage [Term] id: HP:0006642 ! Large sternal ossification centers intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7543 ! Facet of manubrium for right second costal cartilage intersection_of: inheres_in_part_of FMA:7485 ! Sternum [Term] id: HP:0000884 ! Prominent sternum intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:7485 ! Sternum [Term] id: HP:0006624 ! Sternal ossification center abnormalities intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7543 ! Facet of manubrium for right second costal cartilage intersection_of: inheres_in_part_of FMA:7485 ! Sternum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009196 ! Absent metacarpal epiphyses intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:75436 ! Ossification center intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0010308 ! Asternia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:7485 ! Sternum [Term] id: HP:0000925 ! Abnormality of the vertebral column intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:13478 ! Vertebral column intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003468 ! Abnormality of the vertebrae intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9914 ! Vertebra intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003312 ! Abnormal form of the vertebral bodies intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:11945 ! Body of vertebra intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005106 ! Abnormality of the vertebral endplates intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0014386 ! vertebral endplate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003301 ! Irregular vertebral endplates intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in UBERON:0014386 ! vertebral endplate [Term] id: HP:0008476 ! Irregular sclerotic endplates intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003301 ! Irregular vertebral endplates intersection_of: has_part HP:0004576 ! Sclerotic vertebral endplates [Term] id: HP:0004576 ! Sclerotic vertebral endplates intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in UBERON:0014386 ! vertebral endplate [Term] id: HP:0008516 ! Abnormality of the vertebral spinous processes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:11948 ! Spinous process of vertebra intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001331 ! Absent septum pellucidum intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:61844 ! Septum pellucidum [Term] id: HP:0008464 ! Absent spinous processes of lower thoracic and lumbar vertebrae intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:11948 ! Spinous process of vertebra intersection_of: towards _:spinous_process_thoracic_lumbar_vertebrae [Term] id: HP:0004568 ! Beaking of vertebral bodies intersection_of: PATO:0001955 ! cuneate intersection_of: inheres_in FMA:11945 ! Body of vertebra intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004586 ! Biconcave vertebral bodies intersection_of: PATO:0002039 ! biconcave intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0003321 ! Biconcave flattened vertebrae intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004586 ! Biconcave vertebral bodies intersection_of: has_part HP:0000926 ! Platyspondyly [Term] id: HP:0004625 ! Biconvex vertebral bodies intersection_of: PATO:0002040 ! biconvex intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0008437 ! Bifid thoracic vertebrae intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:9139 ! Thoracic vertebra [Term] id: HP:0004634 ! Cuboid-shaped vertebral bodies intersection_of: PATO:0001872 ! cuboid intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0008425 ! Cuboid-shaped thoracolumbar vertebral bodies intersection_of: PATO:0001872 ! cuboid intersection_of: inheres_in_part_of _:thoracolumbar_vertebral_bodies intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0005638 ! Decreased anterioposterior diameter of lumbar vertebral bodies intersection_of: PATO:0002042 ! decreased anterior-posterior diameter intersection_of: inheres_in_part_of FMA:9921 ! Lumbar vertebra intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0004591 ! Disc-like vertebral bodies intersection_of: PATO:0001874 ! discoid intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0004570 ! Increased vertebral height intersection_of: PATO:0000570 ! increased height intersection_of: inheres_in_part_of FMA:9914 ! Vertebra [Term] id: HP:0008439 ! Lumbar hemivertebrae intersection_of: HP:0002937 ! Hemivertebrae intersection_of: inheres_in_part_of FMA:9921 ! Lumbar vertebra [Term] id: HP:0008467 ! Thoracic hemivertebrae intersection_of: HP:0002937 ! Hemivertebrae intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0004582 ! Mild irregularity of vertebral bodies intersection_of: _:irregular_vertebrae intersection_of: qualifier PATO:0000394 ! mild [Term] id: HP:0008473 ! Narrow anterio-posterior vertebral body diameter intersection_of: PATO:0002042 ! decreased anterior-posterior diameter intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0003300 ! Ovoid vertebral bodies intersection_of: PATO:0001891 ! ovate intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0003309 ! Ovoid thoracolumbar vertebrae intersection_of: PATO:0001891 ! ovate intersection_of: inheres_in _:thoracolumbar_vertebral_bodies [Term] id: HP:0004559 ! flat oval-shaped vertebral bodies intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003300 ! Ovoid vertebral bodies intersection_of: has_part PATO:0000407 ! flat [Term] id: HP:0000926 ! Platyspondyly intersection_of: PATO:0000407 ! flat intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:9914 ! Vertebra [Term] id: HP:0004565 ! severe platyspondyly intersection_of: HP:0000926 ! Platyspondyly intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0008504 ! Moderate sensorineural hearing impairment intersection_of: HP:0000407 ! sensorineural hearing impairment intersection_of: qualifier PATO:0000395 ! moderate [Term] id: HP:0004629 ! small cervical vertebral bodies intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:9915 ! Cervical vertebra intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0008429 ! Small, flat cervical vertebrae intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004629 ! small cervical vertebral bodies intersection_of: has_part HP:0005641 ! Flattened cervical vertebral bodies [Term] id: HP:0004558 ! cervical platyspondyly intersection_of: PATO:0000407 ! flat intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:9915 ! Cervical vertebra [Term] id: HP:0005787 ! Lumbar platyspondyly intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:9921 ! Lumbar vertebra [Term] id: HP:0004592 ! thoracic platyspondyly intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:9139 ! Thoracic vertebra [Term] id: HP:0004580 ! Anterior scalloping of vertebral bodies intersection_of: PATO:0001889 ! scalloped intersection_of: inheres_in _:anterior_vertebrae [Term] id: HP:0005121 ! Posterior scalloping of vertebral bodies intersection_of: PATO:0001889 ! scalloped intersection_of: inheres_in _:posterior_vertebrae [Term] id: HP:0002773 ! Small vertebral bodies intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0008421 ! Tall lumbar vertebral bodies intersection_of: PATO:0000570 ! increased height intersection_of: inheres_in_part_of FMA:9921 ! Lumbar vertebra intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0005621 ! Trapezoidal shaped vertebral bodies intersection_of: PATO:0002044 ! trapezoid intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0008438 ! Vertebral arch abnormalities intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:11946 ! Vertebral arch intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008422 ! Wedge-shaped vertebrae intersection_of: PATO:0001955 ! cuneate intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: HP:0010289 ! Alveolar ridge cleft intersection_of: PATO:0000403 ! cleft intersection_of: inheres_in UBERON:0004103 ! alveolar ridge [Term] id: HP:0009099 ! Median cleft palate intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:52966 ! Median palatine suture [Term] id: HP:0009101 ! Submucous cleft lip intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:85391 ! Submucosa intersection_of: inheres_in_part_of FMA:59816 ! Lip [Term] id: HP:0008428 ! Vertebral clefts intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: HP:0004616 ! Cleft vertebral arches intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:11946 ! Vertebral arch [Term] id: HP:0004605 ! Absent vertebral body mineralization intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0031214 ! biomineral formation intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0005885 ! Absent ossification of cervical and thoracic vertebral bodies intersection_of: PATO:0000001 ! quality intersection_of: has_part _:unossified_cervical_vertebra intersection_of: has_part _:unossified_thoracic_vertebra [Term] id: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: HP:0008465 ! Absent vertebrae intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:13478 ! Vertebral column intersection_of: towards FMA:9914 ! Vertebra [Term] id: HP:0008424 ! Hypoplastic 5th lumbar vertebrae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:13076 ! Fifth lumbar vertebra [Term] id: HP:0004589 ! Dysplasia of second lumbar vertebra intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:13073 ! Second lumbar vertebra [Term] id: HP:0100861 ! Vertebral body sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0002946 ! Supernumerary vertebrae intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:9914 ! Vertebra [Term] id: HP:0008420 ! Vertebral calcifications intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: HP:0002948 ! Vertebral fusion intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:9914 ! Vertebra intersection_of: towards FMA:11945 ! Body of vertebra [Term] id: HP:0004557 ! Anterior vertebral fusion intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in _:anterior_vertebrae intersection_of: towards _:anterior_vertebrae [Term] id: HP:0002949 ! Fused cervical vertebrae intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:9915 ! Cervical vertebra intersection_of: towards FMA:9915 ! Cervical vertebra [Term] id: HP:0004575 ! fusion of midcervical facet joints intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:13668 ! Cervical vertebral arch joint [Term] id: HP:0005905 ! Abnormal cervical curvature intersection_of: PATO:0001591 ! curvature intersection_of: inheres_in_part_of FMA:24138 ! Cervical vertebral column intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010978 ! Abnormality of immune system physiology intersection_of: PATO:0001509 ! functionality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9825 ! Immune system [Term] id: HP:0001952 ! Abnormal glucose tolerance intersection_of: PATO:0001046 ! resistance to intersection_of: towards GO:0046323 ! glucose import intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000009 ! Functional abnormality of the bladder intersection_of: PATO:0001509 ! functionality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0001156 ! Brachydactyly intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:85518 ! Digit [Term] id: HP:0005105 ! Abnormal nasal morphology intersection_of: PATO:0000051 ! morphology intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:52745 ! Nasal bone [Term] id: HP:0002795 ! Functional respiratory abnormality intersection_of: PATO:0001509 ! functionality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:7158 ! Respiratory system [Term] id: HP:0010674 ! Abnormality of the curvature of the vertebral column intersection_of: PATO:0001591 ! curvature intersection_of: inheres_in_part_of FMA:13478 ! Vertebral column intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003319 ! Abnormality of the cervical spine intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9915 ! Cervical vertebra intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003318 ! Cervical spine hypermobility intersection_of: PATO:0002282 ! increased mobility intersection_of: inheres_in FMA:9915 ! Cervical vertebra [Term] id: HP:0005620 ! Hypermobility of interphalangeal joints intersection_of: PATO:0002282 ! increased mobility intersection_of: inheres_in FMA:42765 ! Interphalangeal joint [Term] id: HP:0010987 ! Abnormality of cellular immune system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9825 ! Immune system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010966 ! Abnormality of fatty-acid anion metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:fatty_acid_anion_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011020 ! Abnormality of mucopolysaccharide metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:mucopolysaccharide_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011022 ! Abnormality of unsaturated fatty acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:unsaturated_fatty_acid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010995 ! Abnormality of dicarboxylic acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:dicarboxylic_acid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011023 ! Abnormality of prostaglandin metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:prostaglandin_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0005975 ! carbohydrate metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001265 ! Hyporeflexia intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0060004 ! reflex [Term] id: HP:0002932 ! Aldehyde oxidase deficiency intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0004031 ! aldehyde oxidase activity [Term] id: HP:0100491 ! Abnormality of the joints of the lower limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:25873 ! Joint of lower limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008459 ! Cervical vertebral agenesis intersection_of: PATO:0002019 ! aplastic growth intersection_of: inheres_in FMA:9915 ! Cervical vertebra [Term] id: HP:0008469 ! Cervical vertebral dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:9915 ! Cervical vertebra [Term] id: HP:0008434 ! Hypoplastic cervical vertebrae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9915 ! Cervical vertebra [Term] id: HP:0008477 ! Hypoplastic, poorly ossified cervical vertebrae intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0008434 ! Hypoplastic cervical vertebrae intersection_of: has_part _:poorly_ossified_cervical_vertebrae [Term] id: HP:0000470 ! Short neck intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:7155 ! Neck [Term] id: HP:0004571 ! widening of cervical spinal canal intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:83804 ! Cervical vertebral canal [Term] id: HP:0005108 ! Abnormality of the intervertebral disk intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:10446 ! Intervertebral disk intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008419 ! Degeneration of intervertebral disks intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:10446 ! Intervertebral disk [Term] id: HP:0005107 ! Abnormality of the sacrum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:16202 ! Sacrum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008519 ! Abnormality of the coccyx intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:20229 ! Coccyx intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002831 ! Long coccyx intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:20229 ! Coccyx [Term] id: HP:0008436 ! Absent/hypoplastic coccyx intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:20229 ! Coccyx [Term] id: HP:0004590 ! Hypoplastic sacrum intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:16202 ! Sacrum [Term] id: HP:0008475 ! Hypoplastic sacral vertebrae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:12526 ! Sacral vertebra [Term] id: HP:0008455 ! Dysplastic sacrum intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:16202 ! Sacrum [Term] id: HP:0003440 ! Horizontal sacrum intersection_of: PATO:0001855 ! horizontal intersection_of: inheres_in FMA:16202 ! Sacrum [Term] id: HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:71221 ! Axial skeleton [Term] id: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0008463 ! Central vertebral hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24003 ! Central part of body of vertebra [Term] id: HP:0008447 ! Hypoplastic coccygeal vertebrae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:12527 ! Coccygeal vertebra [Term] id: HP:0008479 ! Hypoplastic vertebral bodies intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: HP:0008417 ! Vertebral hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: HP:0002766 ! Relatively short spine intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0008460 ! Hypoplastic spinal processes intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:11948 ! Spinous process of vertebra [Term] id: HP:0003311 ! Hypoplasia of the odontoid process intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24043 ! Dens of axis [Term] id: HP:0003413 ! Atlantoaxial abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25524 ! Atlanto-axial joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003414 ! Atlantoaxial dislocation intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in_part_of FMA:25524 ! Atlanto-axial joint [Term] id: HP:0002808 ! Kyphosis intersection_of: PATO:0001468 ! curved dorsal intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:13478 ! Vertebral column [Term] id: HP:0002947 ! Cervical kyphosis intersection_of: HP:0002808 ! Kyphosis intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:24138 ! Cervical vertebral column [Term] id: HP:0004619 ! lumbar kyphoscoliosis intersection_of: HP:0002751 ! Kyphoscoliosis intersection_of: inheres_in FMA:16203 ! Lumbar vertebral column [Term] id: HP:0003423 ! Thoracolumbar kyphoscoliosis intersection_of: HP:0002751 ! Kyphoscoliosis intersection_of: inheres_in UBERON:0009568 ! trunk region of vertebral column [Term] id: HP:0008454 ! Lumbar kyphosis intersection_of: HP:0002808 ! Kyphosis intersection_of: inheres_in FMA:16203 ! Lumbar vertebral column [Term] id: HP:0002942 ! Thoracic kyphosis intersection_of: HP:0002808 ! Kyphosis intersection_of: inheres_in FMA:9140 ! Thoracic vertebral column [Term] id: HP:0005619 ! Thoracolumbar kyphosis intersection_of: HP:0002808 ! Kyphosis intersection_of: inheres_in UBERON:0009568 ! trunk region of vertebral column [Term] id: HP:0002650 ! Scoliosis intersection_of: PATO:0002049 ! lateral and rotional curvature intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0002751 ! Kyphoscoliosis intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0002650 ! Scoliosis intersection_of: has_part HP:0002808 ! Kyphosis [Term] id: HP:0008517 ! Aplasia/Hypoplasia of the sacrum union_of: HP:0010305 ! Absence of the sacrum union_of: HP:0004590 ! Hypoplastic sacrum [Term] id: HP:0002939 ! Lordosis intersection_of: PATO:0001469 ! curved ventral intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:13478 ! Vertebral column ![Term] !id: HP:0003307 ! Hyperlordosis !intersection_of: HP:0002939 ! Lordosis !intersection_of: qualifier PATO:0002017 ! increased magnitude [Term] id: HP:0002938 ! Lumbar hyperlordosis intersection_of: HP:0003307 ! Hyperlordosis intersection_of: inheres_in FMA:16203 ! Lumbar vertebral column [Term] id: HP:0004626 ! Lumbar scoliosis intersection_of: HP:0002650 ! Scoliosis intersection_of: inheres_in FMA:16203 ! Lumbar vertebral column [Term] id: HP:0002944 ! Thoracolumbar scoliosis intersection_of: HP:0002650 ! Scoliosis intersection_of: inheres_in UBERON:0009568 ! trunk region of vertebral column [Term] id: HP:0002436 ! Occipital meningocele intersection_of: PATO:0002167 ! herniated out of intersection_of: towards FMA:52735 ! Occipital bone intersection_of: inheres_in_part_of _:spinal_cord_and_meninges ![Term] !id: _:incomplete_closure_of_the_spinal_cord !is_anonymous: true !is_a: _:temp_term_holder !intersection_of: PATO:0000609 ! closure incomplete !intersection_of: inheres_in FMA:7647 ! Spinal cord [Term] id: HP:0010301 ! Spinal dysraphism intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:11946 ! Vertebral arch [Term] id: HP:0002414 ! Spina bifida union_of: HP:0003298 ! Spina bifida occulta union_of: HP:0002435 ! Meningocele union_of: HP:0002475 ! Meningomyelocele [Term] id: HP:0003298 ! Spina bifida occulta intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0002143 ! Abnormality of the spinal cord intersection_of: has_part HP:0010301 ! Spinal dysraphism !! MULTIPLE GENUS: [Term] id: HP:0002435 ! Meningocele intersection_of: PATO:0002167 ! herniated out of intersection_of: towards FMA:13478 ! Vertebral column intersection_of: HP:0010301 ! Spinal dysraphism intersection_of: HP:0010651 ! Abnormality of the meninges !! MULTIPLE GENUS: [Term] id: HP:0002475 ! Meningomyelocele intersection_of: PATO:0002167 ! herniated out of intersection_of: towards FMA:13478 ! Vertebral column intersection_of: HP:0010301 ! Spinal dysraphism intersection_of: HP:0010651 ! Abnormality of the meninges intersection_of: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0004614 ! spina bifida occulta at s1 intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:32395 ! Bony part of vertebral arch of first sacral vertebra ! This should be a named term in HPO [Term] id: _:spina_bifida_occulta_l5 is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:72075 ! Bony part of fifth sacral segment [Term] id: HP:0004601 ! spina bifida occulta at l5 or s1 intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004614 ! spina bifida occulta at s1 intersection_of: has_part _:spina_bifida_occulta_l5 [Term] id: HP:0000978 ! Ecchymoses intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:120 ! ecchymosis [Term] id: HP:0010866 ! Abdominal wall defect intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:259054 ! Wall of abdomen [Term] id: HP:0100656 ! Thoracoabdominal wall defects intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010866 ! Abdominal wall defect intersection_of: has_part HP:0100655 ! Thoracic wall defect [Term] id: HP:0100655 ! Thoracic wall defect intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:10428 ! Thoracic wall [Term] id: HP:0002633 ! Vasculitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:63183 ! Blood vessel intersection_of: towards MPATH:201 ! vasculitis [Term] id: HP:0002615 ! Hypotension intersection_of: PATO:0001575 ! decreased pressure intersection_of: qualifier PATO:0001863 ! chronic intersection_of: inheres_in_part_of FMA:63183 ! Blood vessel intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0004870 ! Chronic hemolytic anemia intersection_of: HP:0001878 ! hemolytic anemia intersection_of: qualifier PATO:0001863 ! chronic [Term] id: HP:0005857 ! Cervical spina bifida intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:29794 ! Bony part of cervical vertebral arch [Term] id: HP:0003416 ! Spinal canal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:78497 ! Central canal of spinal cord [Term] id: HP:0008445 ! Narrow cervical spinal canal intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:83804 ! Cervical vertebral canal [Term] id: HP:0004610 ! narrow lumbar spinal canal intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:83805 ! Lumbar vertebral canal [Term] id: HP:0008443 ! Spinal deformities intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0008423 ! Spinal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0003306 ! Spinal rigidity intersection_of: HP:0002063 ! Rigidity intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0000940 ! Abnormality of the diaphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24013 ! Diaphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000941 ! Short diaphyses intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:24013 ! Diaphysis [Term] id: HP:0005019 ! Diaphyseal thickening intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:24013 ! Diaphysis [Term] id: HP:0009100 ! Thick anterior alveolar ridges intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:52832 ! Alveolar part of mandible [Term] id: HP:0002669 ! Osteosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:397 ! osteosarcoma ! Ineed to check this - spaces cannot have lesions [Term] id: HP:0006729 ! Retroperitoneal chemodectomas intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:403 ! paraganglioma intersection_of: inheres_in FMA:15080 ! Retroperitoneal space [Term] id: HP:0002668 ! Paragangliomas intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:403 ! paraganglioma [Term] id: HP:0009730 ! Rhabdomyoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:722 ! Rhabdomyoma [Term] id: HP:0010762 ! Chordoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:405 ! Chordoma [Term] id: HP:0100246 ! Osteoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:396 ! Osteoma [Term] id: HP:0006470 ! Thin diaphyses of long bones intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:24013 ! Diaphysis intersection_of: inheres_in_part_of FMA:7474 ! Long bone [Term] id: HP:0006504 ! Abnormality involving the diaphyses of the limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24013 ! Diaphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006440 ! Increased density of long bone diaphyses intersection_of: PATO:0001788 ! increased mass density intersection_of: inheres_in FMA:24013 ! Diaphysis intersection_of: inheres_in_part_of FMA:7474 ! Long bone [Term] id: HP:0006371 ! Short, broad long bone diaphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000941 ! Short diaphyses intersection_of: has_part _:broad_diaphysis [Term] id: HP:0002754 ! Osteomyelitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0007626 ! Mandibular osteomyelitis intersection_of: HP:0002754 ! Osteomyelitis intersection_of: inheres_in FMA:52748 ! Mandible ![Term] !id: HP:0005775 ! Multiple skeletal anomalies !intersection_of: PATO:0000470 ! present in greater numbers in organism !intersection_of: inheres_in HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0006067 ! Multiple carpal ossification centers intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in FMA:75436 ! Ossification center intersection_of: inheres_in_part_of FMA:23889 ! Carpal bone [Term] id: HP:0002652 ! Skeletal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:23875 ! Skeleton [Term] id: HP:0002656 ! Epiphyseal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0002654 ! Multiple epiphyseal dysplasia intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in HP:0002656 ! Epiphyseal dysplasia [Term] id: HP:0009115 ! Aplasia/Hypoplasia involving the skeleton intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23875 ! Skeleton [Term] id: HP:0002644 ! Abnormality of the pelvis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9578 ! Pelvis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010453 ! Pelvic asymmetry intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in_part_of FMA:9578 ! Pelvis [Term] id: HP:0009106 ! Abnormal ossification involving the bones of the pelvis intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:9578 ! Pelvis [Term] id: HP:0006607 ! Precocious costochondral ossification intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:7956 ! Costochondral joint [Term] id: HP:0009105 ! Abnormal ossification of the pubic bone intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:16595 ! Pubis [Term] id: HP:0008788 ! Delayed pubic bone ossification intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:16595 ! Pubis [Term] id: HP:0008785 ! Delayed ossification of pubic rami intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant _:pubic_rami [Term] id: HP:0008828 ! Delayed ossification of the proximal femoral epiphysis intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0008472 ! Prominent protruding coccyx intersection_of: PATO:0000001 ! quality intersection_of: has_part _:protruding_coccyx intersection_of: has_part _:prominent_coccyx [Term] id: HP:0003272 ! Abnormality of the hip intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24964 ! Hip intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008829 ! Delayed femoral head ossification intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:32851 ! Head of femur [Term] id: HP:0009107 ! Abnormal ossification involving the femoral head and neck intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant _:femoral_head_and_neck [Term] id: HP:0003366 ! Abnormality of the femoral neck and head region intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of _:femoral_head_and_neck intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003368 ! Abnormality of the femoral head intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32851 ! Head of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008802 ! Hypoplasia of the femoral head intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32851 ! Head of femur ![Term] !id: HP:0008802 ! Small femoral heads !intersection_of: PATO:0000587 ! decreased size !intersection_of: inheres_in FMA:32851 ! Head of femur [Term] id: HP:0003367 ! Abnormality of the femoral neck intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:42385 ! Neck of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003032 ! Short femoral neck intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:42385 ! Neck of femur [Term] id: HP:0006429 ! Broad femoral neck intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:42385 ! Neck of femur ! TODO: check [Term] id: HP:0000216 ! Broad secondary alveolar ridge intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:52897 ! Alveolar process of maxilla [Term] id: HP:0000187 ! Broad alveolar ridges intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in UBERON:0004103 ! alveolar ridge [Term] id: HP:0008781 ! Short, wide femoral neck intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003032 ! Short femoral neck intersection_of: has_part HP:0006429 ! Broad femoral neck !This term has been merged with 3032 - broadly speaking this was correct !but we need to check ![Term] !id: HP:0003032 ! Short, hypoplastic femoral necks !intersection_of: PATO:0000001 ! quality !intersection_of: has_part HP:0008802 ! Hypoplastic femoral head !intersection_of: has_part HP:0003032 ! short femoral neck [Term] id: HP:0008819 ! Narrow, short femoral neck intersection_of: PATO:0000001 ! quality intersection_of: has_part _:narrow_femoral_neck intersection_of: has_part HP:0003032 ! Short femoral neck [Term] id: HP:0008782 ! Wide, deformed femoral neck intersection_of: PATO:0000001 ! quality intersection_of: has_part _:deformed_femoral_neck intersection_of: has_part HP:0006429 ! Broad femoral neck [Term] id: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck union_of: HP:0100862 ! Aplasia of the femoral head union_of: HP:0100863 ! Aplasia of the femoral neck union_of: HP:0008802 ! Hypoplasia of the femoral head union_of: HP:0100864 ! Hypoplasia of the femoral neck ![Term] !id: _:hypoplastic_femoral_head_and_neck !is_anonymous: true !intersection_of: PATO:0000645 ! hypoplastic !intersection_of: inheres_in _:femoral_head_and_neck ![Term] !id: _:aplastic_femoral_head_and_neck !is_anonymous: true !intersection_of: PATO:0001483 ! aplastic !intersection_of: inheres_in _:femoral_head_and_neck [Term] id: HP:0008804 ! Broad femoral heads and necks intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in_part_of _:femoral_head_and_neck [Term] id: HP:0008826 ! Dislocation of the femoral head intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:32851 ! Head of femur [Term] id: HP:0008812 ! Flattened femoral head intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:32851 ! Head of femur [Term] id: HP:0002822 ! Hyperplasia of the femoral trochanters intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:82513 ! Trochanter [Term] id: HP:0008801 ! Hypoplasia of the lesser trochanter intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32853 ! Lesser trochanter [Term] id: HP:0006453 ! Lateral displacement of the femoral head intersection_of: PATO:0001923 ! mislocalised laterally intersection_of: inheres_in FMA:32851 ! Head of femur [Term] id: HP:0003411 ! Irregular proximal femoral metaphyses intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in _:proximal_femoral_metaphysis [Term] id: HP:0008783 ! Enlarged, irregular proximal femoral metaphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part PATO:0000586 ! increased size intersection_of: has_part HP:0003411 ! Irregular proximal femoral metaphyses [Term] id: HP:0008806 ! Small, irregular proximal femoral epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part PATO:0000587 ! decreased size intersection_of: has_part HP:0003411 ! Irregular proximal femoral metaphyses [Term] id: HP:0003170 ! Abnormality of the acetabulum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:16579 ! Acetabular part of hip bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003179 ! Protrusio acetabuli intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:16579 ! Acetabular part of hip bone [Term] id: HP:0008807 ! Acetabular dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:16579 ! Acetabular part of hip bone [Term] id: HP:0003274 ! Hypoplastic acetabulae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:16579 ! Acetabular part of hip bone [Term] id: HP:0003182 ! Shallow acetabular fossae intersection_of: PATO:0001472 ! decreased depth intersection_of: inheres_in FMA:17269 ! Acetabular fossa [Term] id: HP:0002827 ! Dislocated hips intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:24964 ! Hip [Term] id: HP:0003273 ! Hip contractures intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:24964 ! Hip [Term] id: HP:0001385 ! Hip dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:24964 ! Hip !! FIXME [Term] id: HP:0008780 ! Congenital bilateral hip dislocation intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:24964 ! Hip intersection_of: qualifier PATO:0000618 ! bilateral [Term] id: HP:0005262 ! Abnormality of the synovia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7501 ! Synovial joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005186 ! Synovial hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:7501 ! Synovial joint [Term] id: HP:0008480 ! Cervical spondylosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:24138 ! Cervical vertebral column intersection_of: towards MPATH:27 ! arthrosis [Term] id: HP:0001369 ! Arthritis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:7490 ! Joint intersection_of: towards MPATH:195 ! arthritis [Term] id: HP:0001036! Parakeratosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:45563 ! Stratified squamous epithelium intersection_of: towards MPATH:156 ! parakeratosis [Term] id: HP:0005613 ! Aplasia/hypoplasia of the femur intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:9611 ! Femur [Term] id: HP:0003097 ! Short femur intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:9611 ! Femur [Term] id: HP:0008779 ! Hypoplastic femoral neck intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:42385 ! Neck of femur [Term] id: HP:0006492 ! Aplasia/Hypoplasia of the fibula union_of: HP:0002990 ! Absent fibulae union_of: HP:0003038 ! fibular hypoplasia [Term] id: HP:0002990 ! Fibular aplasia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24479 ! Fibula [Term] id: HP:0006381 ! Rudimentary fibula intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:24479 ! Fibula [Term] id: HP:0003038 ! Fibular hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24479 ! Fibula [Term] id: HP:0006442 ! Hypoplasia of proximal fibula intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:33729 ! Proximal epiphysis of fibula [Term] id: HP:0006498 ! Aplasia/Hypoplasia of the patella union_of: HP:0003065 ! Patellar hypoplasia union_of: HP:0006443 ! Patellar aplasia [Term] id: HP:0003065 ! Patellar hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24485 ! Patella [Term] id: HP:0006443 ! Patellar aplasia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24485 ! Patella [Term] id: HP:0006369 ! Small, irregular patellae union_of: HP:0006498 ! aplasia/hypoplasia of the patella union_of: _:irregular_patella [Term] id: HP:0005736 ! Hypoplastic tibia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24476 ! Tibia [Term] id: HP:0006436 ! Shortening of the tibia intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:24476 ! Tibia ! Sandra: For HP:0006402 I changed the former distal segment of free limb to middle segment of free limb as in medical ! usage if we spaek of Distal shortening of limbs we usually mean the forearm and lower leg and not the hands/feet. [Term] id: HP:0006402 ! Distal shortening of limbs intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:83016 ! Middle free limb segment [Term] id: HP:0006379 ! Proximal tibial hypopolasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in _:proximal_tibia [Term] id: HP:0006426 ! Rudimentary to absent tibiae intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24476 ! Tibia [Term] id: HP:0006385 ! Short lower limbs intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:24222 ! Skeleton of foot [Term] id: HP:0009136 ! Duplication involving bones of the feet intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:24222 ! Skeleton of foot [Term] id: HP:0010503 ! Fibular duplication intersection_of: PATO:0001473 ! duplicated intersection_of: inheres_in FMA:24479 ! Fibula ![Term] !id: HP:0010675 ! Abnormality of the mineralisation and ossification of bones of the feet !intersection_of: PATO:0000001 ! quality !intersection_of: qualifier PATO:0000460 ! abnormal !intersection_of: inheres_in GO:0001503 ! ossification !intersection_of: has_central_participant FMA:24222 ! Skeleton of foot [Term] id: HP:0010675 ! Abnormality of the mineralisation and ossification of bones of the feet intersection_of: PATO:0001019 ! mass density intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:24222 ! Skeleton of foot [Term] id: HP:0008371 ! Abnormal ossification involving metatarsal bones intersection_of: PATO:0001019 ! mass density intersection_of: inheres_in FMA:24492 ! Metatarsal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010630 ! Abnormality of the epiphyses of the metatarsals intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:9664 ! Foot intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008114 ! Metatarsal diaphyseal endosteal sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32692 ! Endosteum intersection_of: inheres_in_part_of FMA:33826 ! Diaphysis of metatarsal bone [Term] id: HP:0008369 ! Abnormal ossification of tarsal bones intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24491 ! Tarsal bone [Term] id: HP:0009132 ! Abnormality of bone mineral density involving tarsal bones intersection_of: PATO:0001019 ! mass density intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:24491 ! Tarsal bone [Term] id: HP:0008103 ! Delayed tarsal ossification intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24491 ! Tarsal bone [Term] id: HP:0006598 ! Irregular ossification at anterior rib ends intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:7583 ! Tubercle of rib [Term] id: HP:0003893 ! Advanced maturation/advanced ossification of the humeral epiphyses intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:32825 ! Epiphysis of humerus [Term] id: HP:0008108 ! Advanced tarsal ossification intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24491 ! Tarsal bone [Term] id: _:irregular_tarsal_ossification intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24491 ! Tarsal bone [Term] id: _:defective_tarsal_ossification intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24491 ! Tarsal bone !perhaps this works? !! MULTIPLE GENUS: [Term] id: HP:0008134 ! Defective, irregular tarsal ossification intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24491 ! Tarsal bone intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: PATO:0001511 ! non-functional ![Term] !id: HP:0008134 ! Defective, irregular tarsal ossification !intersection_of: inheres_in GO:0001503 ! ossification !intersection_of: has_central_participant FMA:24491 ! Tarsal bone !intersection_of: has_part _:defective_tarsal_ossification !intersection_of: has_part _:irregular_tarsal_ossification [Term] id: HP:0005921 ! Abnormal ossification of hand bones intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24159 ! Skeleton of hand [Term] id: HP:0004280 ! Irregular ossification of hand bones intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24159 ! Skeleton of hand ! This should be a named term in HPO [Term] id: _:absent_carpal_bones is_anonymous: true intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:23889 ! Carpal bone [Term] id: HP:0009560 ! Curved distal phalanx of the 2nd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009503 ! Bracket epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009508 ! Ivory epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0002980 ! Femoral bowing intersection_of: PATO:0001592 ! increased curvature intersection_of: inheres_in FMA:9611 ! Femur [Term] id: HP:0009565 ! Aplasia of the distal phalanx of the 2nd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009394 ! Bracket epiphyses of the 4th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:24948 ! Ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009383 ! Bracket epiphyses of the 5th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:24949 ! Little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009388 ! Ivory epiphyses of the 5th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:24949 ! Little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009469 ! Contracture of the distal interphalangeal joint of the 3rd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65024 ! Distal interphalangeal joint intersection_of: inheres_in_part_of FMA:24947 ! Middle finger [Term] id: HP:0009470 ! Contracture of the metacarpophalangeal joint of the 3rd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35246 ! Metacarpophalangeal joint intersection_of: inheres_in_part_of FMA:24947 ! Middle finger [Term] id: HP:0009471 ! Contracture of the proximal interphalangeal joint of the 3rd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint intersection_of: inheres_in_part_of FMA:24947 ! Middle finger [Term] id: HP:0000243 ! Trigonocephaly intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0009498 ! Triangular epiphyses of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009488 ! Absent epiphyses of the 2nd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:24946 ! Index finger intersection_of: towards FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0009489 ! Bracket epiphyses of the 2nd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009664 ! Absent epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009665 ! Bracket epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009670 ! Ivory epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009667 ! Enlarged epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0003271 ! Visceromegaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32413 ! Set of viscera of abdomen [Term] id: HP:0009674 ! Triangular epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009675 ! Absent epiphysis of the distal phalanx of the thumb intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009676 ! Bracket epiphysis of the distal phalanx of the thumb intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009681 ! Ivory epiphysis of the distal phalanx of the thumb intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009678 ! Enlarged epiphysis of the distal phalanx of the thumb intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009685 ! Triangular epiphysis of the distal phalanx of the thumb intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010238 ! Triangular epiphyses of the phalanges of the hand intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009564 ! Triangular shaped distal phalanx of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010973 ! Abnormality of erythroid lineage cell intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000764 ! erythroid lineage cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger union_of: _:hypoplastic_distal_phalanx_of_the_2nd_finger union_of: HP:0009565 ! Aplasia of the distal phalanx of the 2nd finger ! radial-ulnar [Term] id: HP:0009950 ! Complete duplication of the distal phalanx of the 2nd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009951 ! Partial duplication of the distal phalanx of the 2nd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009948 ! Partial/complete duplication of the distal phalanx of the 2nd finger union_of: HP:0009950 ! Complete duplication of the distal phalanx of the 2nd finger union_of: HP:0009951 ! Partial duplication of the distal phalanx of the 2nd finger ! proximal-distal axis [Term] id: HP:0006176 ! Two carpal ossification centers present at birth intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:7543 ! Facet of manubrium for right second costal cartilage intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0008127 ! Bipartite calcaneus intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:7543 ! Facet of manubrium for right second costal cartilage intersection_of: inheres_in FMA:24496 ! Calcaneus [Term] id: HP:0009559 ! Bullet-shaped distal phalanx of the 2nd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0100900 ! Sclerosis of the distal phalanx of the 2nd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009562 ! Patchy sclerosis of the distal phalanx of the 2nd finger intersection_of: HP:0100900 ! Sclerosis of the distal phalanx of the 2nd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0100923 ! Clavicular sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: HP:0009428 ! Curved distal phalanx of the 3rd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009965 ! Complete duplication of the distal phalanx of the 3rd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009968 ! Partial duplication of the distal phalanx of the 3rd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009962 ! Partial/complete duplication of the distal phalanx of the 3rd finger union_of: HP:0009965 ! Complete duplication of the distal phalanx of the 3rd finger union_of: HP:0009968 ! Partial duplication of the distal phalanx of the 3rd finger [Term] id: HP:0009429 ! Aplasia of the distal phalanx of the 3rd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0004180 ! Hypoplastic/small distal phalanx of the 3rd finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009427 ! Triangular shaped distal phalanx of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009424 ! Osteolytic defects of the distal phalanx of the 3rd finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0006449 ! Distal radial epiphyseal osteolysis intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:33776 ! Distal epiphysis of radius [Term] id: HP:0009423 ! Bullet-shaped distal phalanx of the 3rd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009425 ! Patchy sclerosis of the distal phalanx of the 3rd finger intersection_of: HP:0100901 ! Sclerosis of the distal phalanx of the 3rd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009286 ! Curved distal phalanx of the 4th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009291 ! Aplasia of the distal phalanx of the 4th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009290 ! Hypoplastic/small distal phalanx of the 4th finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009306 ! Triangular shaped distal phalanx of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009978 ! Complete duplication of the distal phalanx of the 4th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009981 ! Partial duplication of the distal phalanx of the 4th finger intersection_of: PATO:0001572 ! bifid intersection_of: towards FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009975 ! Partial/complete duplication of the distal phalanx of the 4th finger union_of: HP:0009978 ! Complete duplication of the distal phalanx of the 4th finger union_of: HP:0009981 ! Partial duplication of the distal phalanx of the 4th finger [Term] id: HP:0009303 ! Osteolytic defects of the distal phalanx of the 4th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0100902 ! Sclerosis of the distal phalanx of the 4th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009304 ! Patchy sclerosis of the distal phalanx of the 4th finger intersection_of: HP:0100902 ! Sclerosis of the distal phalanx of the 4th finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009302 ! Bullet-shaped distal phalanx of the 4th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0004226 ! Curved distal phalanx of the 5th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009246 ! Aplasia of the distal phalanx of the 5th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia union_of: HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger union_of: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger [Term] id: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009991 ! Complete duplication of the distal phalanx of the 5th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009994 ! Partial duplication of the distal phalanx of the 5th finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009988 ! Partial/complete duplication of the distal phalanx of the 5th finger union_of: HP:0009994 ! Partial duplication of the distal phalanx of the 5th finger union_of: HP:0009991 ! Complete duplication of the distal phalanx of the 5th finger [Term] id: HP:0009241 ! Bullet-shaped distal phalanx of the 5th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009242 ! Osteolytic defects of the distal phalanx of the 5th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0100903 ! Sclerosis of the distal phalanx of the 5th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009243 ! Patchy sclerosis of the distal phalanx of the 5th finger intersection_of: HP:0100903 ! Sclerosis of the distal phalanx of the 5th finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009335 ! Absent epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009250 ! Absent epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009251 ! Bracket epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger ! Absent epiphysis of the middle phalanx [Term] id: HP:0009513 ! Absent epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009321 ! Absent epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009214 ! Absent epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009203 ! Absent epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger ! Absent epiphysis of the proximal phalanx [Term] id: HP:0009524 ! Absent epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009350 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009261 ! Absent epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009263 ! Cone-shaped epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009268 ! Pseudoepiphysis of the proximal phalanx of the 4th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0006179 ! Pseudoepiphyses of second metacarpal intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23900 ! Second metacarpal bone [Term] id: HP:0004288 ! Pseudoepiphyses of hand bones intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:24159 ! Skeleton of hand [Term] id: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:23914 ! Phalanx of finger [Term] id: HP:0009495 ! Pseudoepiphyses of the 2nd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:24946 ! Index finger [Term] id: HP:0009269 ! Small epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009271 ! Triangular epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009262 ! Bracket epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009267 ! Ivory epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009160 ! Absent epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009154 ! Triangular epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009155 ! Cone-shaped epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009159 ! Small epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009188 ! Pseudoepiphysis of the distal phalanx of the 5th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009197 ! Bracket epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009768 ! Broad phalanges of the hand intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0009770 ! Curved phalanges of the hand intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0009769 ! Bullet-shaped phalanges of the hand intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0009802 ! Aplasia of the phalanges of the hand intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0005918 ! Abnormality of the phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23914 ! Phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009774 ! Triangular shaped phalanges of the hand intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23914 ! Phalanx of finger ![Term] !id: HP:0009997 ! Partial/complete duplication of phalanges of the hand !intersection_of: PATO:0001473 ! duplicated !intersection_of: towards FMA:23914 ! Phalanx of finger [Term] id: HP:0009997 ! Partial/complete duplication of phalanges of the hand union_of: HP:0009998 ! Complete duplication of the phalanges of the hand union_of: HP:0009999 ! Partial duplication of the phalanges of the hand [Term] id: HP:0009998 ! Complete duplication of the phalanges of the hand intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23914 ! Phalanx of finger [Term] id: HP:0009999 ! Partial duplication of the phalanges of the hand intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0009773 ! Symphalangism affecting the phalanges of the hand intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23914 ! Phalanx of finger intersection_of: towards FMA:23914 ! Phalanx of finger [Term] id: HP:0100899 ! Sclerosis of the phalanges of the hand intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0009772 ! Patchy sclerosis of the phalanges of the hand intersection_of: HP:0100899 ! Sclerosis of the phalanges of the hand intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009771 ! Osteolytic defects of the phalanges of the hand intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0009836 ! Broad distal phalanges of the hand intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009838 ! Curved distal phalanges of the hand intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009884 ! Tapered distal phalanges of the hand intersection_of: PATO:0001500 ! tapered intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009837 ! Bullet-shaped distal phalanges of the hand intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009881 ! Aplasia of the distal phalanges of the hand intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009882 ! Hypoplasia of the distal phalanges of the hand intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand union_of: HP:0009881 ! Aplasia of the distal phalanges of the hand union_of: HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones union_of: HP:0010743 ! Hypoplastic metatarsals union_of: _:aplastic_metacarpal_bones [Term] id: HP:0001449 ! Duplication of metatarsal bones intersection_of: PATO:0001473 ! duplicated intersection_of: inheres_in_part_of FMA:24492 ! Metatarsal bone [Term] id: HP:0010743 ! Hypoplasia of the metatarsal bones intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:24492 ! Metatarsal bone [Term] id: HP:0008089 ! Anomalous fifth metatarsal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24506 ! Fifth metatarsal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009832 ! Abnormality of the distal phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009875 ! Triangular shaped distal phalanges of the hand intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0010001 ! Complete duplication of the distal phalanges of the hand intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:75818 ! Distal phalanx of finger [Term] id: HP:0010004 ! Partial duplication of the distal phalanges of the hand intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand union_of: HP:0010001 ! Complete duplication of the distal phalanges of the hand union_of: HP:0010004 ! Partial duplication of the distal phalanges of the hand [Term] id: HP:0009844 ! Broad middle phalanges of the hand intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0001204 ! Distal symphalangism (hands) intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger intersection_of: towards FMA:75817 ! Middle phalanx of finger [Term] id: HP:0010002 ! Complete duplication of the middle phalanges of the hand intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:75817 ! Middle phalanx of finger [Term] id: HP:0010005 ! Partial duplication of the middle phalanges of the hand intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0010008 ! Partial/complete duplication of the middle phalanges of the hand union_of: HP:0010002 ! Complete duplication of the middle phalanges of the hand union_of: HP:0010005 ! Partial duplication of the middle phalanges of the hand [Term] id: HP:0010239 ! Aplasia of the middle phalanges of the hand intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0010240 ! Hypoplasia of the middle phalanges of the hand intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0009833 ! Abnormality of the middle phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009846 ! Curved middle phalanges of the hand intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0009845 ! Bullet-shaped middle phalanges of the hand intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0009850 ! Triangular shaped middle phalanges of the hand intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0100916 ! Sclerosis of the middle phalanges of the hand intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger [Term] id: HP:0100915 ! Sclerosis of the distal phalanges of the hand intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0100917 ! Sclerosis of the proximal phalanges of the hand intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand intersection_of: HP:0100916 ! Sclerosis of the middle phalanges of the hand intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand intersection_of: HP:0100915 ! Sclerosis of the distal phalanges of the hand intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand intersection_of: HP:0100917 ! Sclerosis of the proximal phalanges of the hand intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010170 ! Small epiphyses of the toes intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010169 ! Pseudoepiphyses of the toes intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe [Term] id: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010165 ! Enlarged epiphyses of the toes intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010167 ! Irregular epiphyses of the toes intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009677 ! Cone-shaped epiphysis of the distal phalanx of the thumb intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009666 ! Cone-shaped epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009673 ! Stippling of the epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009201 ! Stippling of the epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0002832 ! Calcific stippling intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in GO:0030282 ! bone calcification [Term] id: HP:0009669 ! Irregular epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009668 ! Fragmentation of the epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010164 ! Cone-shaped epiphyses of the toes intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009608 ! duplicated proximal phalanx of the thumb intersection_of: PATO:0001473 ! duplicated intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0009614 ! bifid proximal phalanx of the thumb intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0009613 ! Partial/complete duplication of the proximal phalanx of the thumb union_of: HP:0009608 ! duplicated proximal phalanx of the thumb union_of: HP:0009614 ! bifid proximal phalanx of the thumb [Term] id: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010160 ! Abnormality of the epiphyses of the toes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010168 ! Ivory epiphyses of the toes intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010163 ! Bracket epiphyses of the toes intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010172 ! Triangular epiphyses of the toes intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010166 ! Fragmentation of the epiphyses of the toes intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010162 ! Absent epiphyses of the toes intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:24493 ! Phalanx of toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0009672 ! Small epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0006213 ! Thin proximal phalanges with broad epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part _:thin_proximal_phalanges intersection_of: has_part _:broad_epiphyses_of_the_proximal_phalanges_of_the_hand ! This should be a named HP term [Term] id: _:thin_proximal_phalanges is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: _:broad_epiphyses_of_the_proximal_phalanges_of_the_hand is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010655 ! Stippling of the epiphyses intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0009195 ! Stippling of the epiphyses of the metacarpals intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0006134 ! Enlarged metacarpal epiphyses intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0009189 ! Fragmentation of the metacarpal epiphyses intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0009165 ! Stippling of the epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009147 ! Enlarged epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009148 ! Small epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009149 ! Triangular epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0003696 ! Absent epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0004222 ! Cone-shaped epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0004223 ! Ivory epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009167 ! Irregular epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009157 ! Ivory epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009204 ! Bracket epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009200 ! Pseudoepiphysis of the proximal phalanx of the 5th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009205 ! Cone-shaped epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009206 ! Enlarged epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009210 ! Pseudoepiphysis of the middle phalanx of the 5th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009389 ! Pseudoepiphyses of the 5th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0009211 ! Small epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009213 ! Triangular epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009209 ! Ivory epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009212 ! Stippling of the epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009199 ! Irregular epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009208 ! Irregular epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009166 ! Fragmentation of the epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009202 ! Fragmentation of the epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009207 ! Fragmentation of the epiphysis of the middle phalanx of the 5th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23936 ! Middle phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009223 ! Stippling of the epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009252 ! Cone-shaped epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009253 ! Enlarged epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009257 ! Pseudoepiphysis of the distal phalanx of the 4th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009682 ! Pseudoepiphysis of the distal phalanx of the thumb intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009258 ! Small epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009260 ! Triangular epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009255 ! Irregular epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009254 ! Fragmentation of the epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009259 ! Stippling of the epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009266 ! Irregular epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009265 ! Fragmentation of the epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009220 ! Ivory epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009216 ! Cone-shaped epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009217 ! Enlarged epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009219 ! Irregular epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009221 ! Pseudoepiphysis of the middle phalanx of the 4th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009222 ! Small epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009224 ! Triangular epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009270 ! Stippling of the epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009215 ! Bracket epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009218 ! Fragmentation of the epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009344 ! Stippling of the epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009337 ! Cone-shaped epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009338 ! Enlarged epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009342 ! Pseudoepiphysis of the distal phalanx of the 3rd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009343 ! Small epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009345 ! Triangular epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009341 ! Ivory epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009340 ! Irregular epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009339 ! Fragmentation of the epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009336 ! Bracket epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009330 ! Stippling of the epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009327 ! Ivory epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009323 ! Cone-shaped epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009324 ! Enlarged epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009326 ! Irregular epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009328 ! Pseudoepiphysis of the middle phalanx of the 3rd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009329 ! Small epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009331 ! Triangular epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009322 ! Bracket epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009355 ! Stippling of the epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009352 ! Ivory epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009351 ! Irregular epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009347 ! Bracket epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009346 ! Absent epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009348 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009353 ! Pseudoepiphysis of the proximal phalanx of the 3rd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009354 ! Small epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009356 ! Triangular epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009511 ! Stippling of the epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009510 ! Small epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009512 ! Triangular epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009509 ! Pseudoepiphysis of the distal phalanx of the 2nd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009507 ! Irregular epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009502 ! Absent epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009504 ! Cone-shaped epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009505 ! Enlarged epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009506 ! Fragmentation of the epiphysis of the distal phalanx of the 2nd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23946 ! Distal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009533 ! Stippling of the epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009530 ! Ivory epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009529 ! Irregular epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009528 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009526 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009527 ! Enlarged epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009531 ! Pseudoepiphysis of the proximal phalanx of the 2nd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009532 ! Small epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009534 ! Triangular epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009525 ! Bracket epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009522 ! Stippling of the epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009523 ! Triangular epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009516 ! Enlarged epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009521 ! Small epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009520 ! Pseudoepiphysis of the middle phalanx of the 2nd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009519 ! Ivory epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009514 ! Bracket epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0006652 ! Breast and nipple hypoplasia/aplasia intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0002557 ! Hypoplastic nipples intersection_of: has_part HP:0003187 ! Breast hypoplasia [Term] id: HP:0009518 ! Irregular epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009517 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009391 ! Stippling of the epiphyses of the 5th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:35489 ! Phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009402 ! Stippling of the epiphyses of the 4th finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009419 ! Stippling of the epiphyses of the 3rd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009497 ! Stippling of the epiphyses of the 2nd finger intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:35480 ! Phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009695 ! Stippling of the epiphyses of the thumb intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010122 ! Stippling of the epiphyses of the hallux intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010119 ! Ivory epiphyses of the hallux intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010114 ! Bracket epiphyses of the hallux intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010117 ! Fragmentation of the epiphyses of the hallux intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010136 ! Stippling of the epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010133 ! Ivory epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010128 ! Bracket epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010127 ! Absent epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0010129 ! Cone-shaped epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010130 ! Enlarged epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010134 ! Pseudoepiphysis of the proximal phalanx of the hallux intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010135 ! Small epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010137 ! Triangular epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010132 ! Irregular epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010131 ! Fragmentation of the epiphysis of the proximal phalanx of the hallux intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:43252 ! Proximal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010147 ! Stippling of the epiphysis of the distal phalanx of the hallux intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010086 ! Broad proximal phalanx of the hallux intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010077 ! Broad distal phalanx of the hallux intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010061 ! Curved phalanges of the hallux intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0010079 ! Curved distal phalanx of the hallux intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010088 ! Curved proximal phalanx of the hallux intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010144 ! Ivory epiphysis of the distal phalanx of the hallux intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010139 ! Bracket epiphysis of the distal phalanx of the hallux intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010143 ! Irregular epiphysis of the distal phalanx of the hallux intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010142 ! Fragmentation of the epiphysis of the distal phalanx of the hallux intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010138 ! Absent epiphysis of the distal phalanx of the hallux intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0010140 ! Cone-shaped epiphysis of the distal phalanx of the hallux intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010141 ! Enlarged epiphysis of the distal phalanx of the hallux intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010145 ! Pseudoepiphysis of the distal phalanx of the hallux intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010146 ! Small epiphysis of the distal phalanx of the hallux intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010148 ! Triangular epiphysis of the distal phalanx of the hallux intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32627 ! Distal phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010024 ! Stippling of the epiphysis of the 1st metacarpal intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010577 ! Absent epiphyses intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0010579 ! Cone-shaped epiphyses intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010585 ! Small epiphyses intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010587 ! Triangular epiphyses intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0010056 ! Abnormality of the epiphyses of the hallux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0010020 ! Irregular epiphysis of the 1st metacarpal intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010029 ! Curved 1st metacarpal intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0010035 ! Aplasia of the 1st metacarpal intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0010242 ! Aplasia of the proximal phalanges of the hand intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in_part_of FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0010034 ! Hypoplastic/short 1st metacarpal intersection_of: PATO:0000001 ! quality intersection_of: has_part _:hypoplastic_1st_metacarpal intersection_of: has_part _:short_1st_metacarpal ! This should be a named term in HPO [Term] id: _:hypoplastic_1st_metacarpal is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23899 ! First metacarpal bone ! This should be a named term in HPO [Term] id: _:short_1st_metacarpal is_anonymous: true intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0010037 ! Aplasia of the 2nd metacarpal intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23900 ! Second metacarpal bone [Term] id: HP:0010038 ! Hypoplastic/short 2nd metacarpal intersection_of: PATO:0000001 ! quality intersection_of: has_part _:hypoplastic_2nd_metacarpal intersection_of: has_part _:short_2nd_metacarpal ! This should be a named term in HPO [Term] id: _:hypoplastic_2nd_metacarpal is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23900 ! Second metacarpal bone ! This should be a named term in HPO [Term] id: _:short_2nd_metacarpal is_anonymous: true intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:23900 ! Second metacarpal bone [Term] id: HP:0010041 ! Hypoplastic/short 3rd metacarpal union_of: _:hypoplastic_3rd_metacarpal union_of: _:short_3rd_metacarpal [Term] id: HP:0010040 ! Aplasia of the 3rd metacarpal intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23901 ! Third metacarpal bone ! This should be a named term in HPO [Term] id: _:hypoplastic_3rd_metacarpal is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23901 ! Third metacarpal bone ! This should be a named term in HPO [Term] id: _:short_3rd_metacarpal is_anonymous: true intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:23901 ! Third metacarpal bone [Term] id: HP:0010043 ! Aplasia of the 4th metacarpal intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23902 ! Fourth metacarpal bone [Term] id: HP:0010044 ! Hypoplastic/short 4th metacarpal intersection_of: PATO:0000001 ! quality intersection_of: has_part _:hypoplastic_4th_metacarpal intersection_of: has_part _:short_4th_metacarpal ! This should be a named term in HPO [Term] id: _:hypoplastic_4th_metacarpal is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23902 ! Fourth metacarpal bone ! This should be a named term in HPO [Term] id: _:short_4th_metacarpal is_anonymous: true intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:23902 ! Fourth metacarpal bone [Term] id: HP:0010046 ! Aplasia of the 5th metacarpal intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23903 ! Fifth metacarpal bone [Term] id: HP:0010047 ! Hypoplastic/short 5th metacarpal intersection_of: PATO:0000001 ! quality intersection_of: has_part _:hypoplastic_5th_metacarpal intersection_of: has_part _:short_5th_metacarpal ! This should be a named term in HPO [Term] id: _:hypoplastic_5th_metacarpal is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23903 ! Fifth metacarpal bone ! This should be a named term in HPO [Term] id: _:short_5th_metacarpal is_anonymous: true intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:23903 ! Fifth metacarpal bone [Term] id: HP:0010054 ! Abnormality of the 1st metatarsal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24502 ! First metatarsal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010098 ! Complete duplication of the 1st metatarsal intersection_of: PATO:0001473 ! duplicated intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010099 ! Partial duplication of the 1st metatarsal intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010075 ! Partial/complete duplication of the1st metatarsal union_of: HP:0010098 ! Complete duplication of the 1st metatarsal union_of: HP:0010099 ! Partial duplication of the 1st metatarsal [Term] id: HP:0010067 ! Aplasia/Hypoplasia of the 1st metatarsal union_of: HP:0010105 ! Hypoplastic/short 1st metatarsal union_of: HP:0010104 ! Aplasia of the 1st metatarsal [Term] id: HP:0006824 ! Cranial nerve paralysis intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in FMA:5865 ! Cranial nerve [Term] id: HP:0010068 ! Broad 1st metatarsal intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010070 ! Curved 1st metatarsal intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010104 ! Aplasia of the 1st metatarsal intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24502 ! First metatarsal bone ! This should be a named term in HPO [Term] id: _:hypoplastic_first_metatarsal_bone is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010105 ! Hypoplastic/short 1st metatarsal intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010105 ! short first metatarsal intersection_of: has_part _:hypoplastic_first_metatarsal_bone [Term] id: HP:0010019 ! Fragmentation of the epiphysis of the 1st metacarpal intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010150 ! Bracket epiphysis of the 1st metatarsal intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010155 ! Ivory epiphysis of the 1st metatarsal intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010153 ! Fragmentation of the epiphysis of the 1st metatarsal intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010154 ! Irregular epiphysis of the 1st metatarsal intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010158 ! Stippling of the epiphysis of the 1st metatarsal intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010171 ! Stippling of the epiphyses of the toes intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010297 ! Bifid tongue intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0000158 ! Macroglossia intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0100648 ! Neoplasia of the tongue intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:54640 ! Tongue intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0010298 ! Smooth tongue intersection_of: PATO:0000701 ! smooth intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0010299 ! Abnormality of dentin intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55628 ! Dentine intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010334 ! Polydactyly affecting the 3rd toe intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:25051 ! Third toe intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0010292 ! Absent uvula intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:55022 ! Uvula [Term] id: HP:0010113 ! Absent epiphyses of the hallux intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32884 ! Phalanx of big toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0008181 ! Abetalipoproteinemia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards CHEBI:39026 ! low-density lipoprotein intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0010281 ! Cleft of the lower lip intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:59818 ! Lower lip [Term] id: HP:0009094 ! Cleft lower alveolar ridge intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:52897 ! Alveolar process of maxilla [Term] id: HP:0010282 ! Thin lower lip vermilion intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:59818 ! Lower lip [Term] id: HP:0010286 ! Abnormality of the salivary glands intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9597 ! Salivary gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100684 ! Salivary gland neoplasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9597 ! Salivary gland intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0010287 ! Abnormality of the submandibular glands intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55093 ! Submandibular gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010288 ! Abnormality of the sublingual glands intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59791 ! Sublingual gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003906 ! Wide/broad humeral epiphyseal plate intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in_part_of FMA:13303 ! Humerus intersection_of: inheres_in FMA:75427 ! Epiphysial plate [Term] id: HP:0009936 ! Narrow nasal septum intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:54375 ! Nasal septum [Term] id: HP:0009931 ! Naris, enlarged intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:59645 ! External naris [Term] id: HP:0009933 ! Naris, narrow intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:59645 ! External naris [Term] id: HP:0009934 ! Supernumerary nostrils intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:46472 ! Nose intersection_of: towards FMA:59645 ! External naris [Term] id: HP:0009144 ! Supernumerary bones of the axial skeleton intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:71221 ! Axial skeleton intersection_of: towards FMA:5018 ! Bone organ [Term] id: HP:0009940 ! Asymmetry of the mandible intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:52748 ! Mandible [Term] id: HP:0009941 ! Asymmetry of the mouth intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:49184 ! Mouth [Term] id: HP:0000217 ! Xerostomia intersection_of: PATO:0001824 ! dry intersection_of: inheres_in FMA:49184 ! Mouth ![Term] !id: HP:0000217 ! Xerostomia !intersection_of: PATO:0001824 ! dry !intersection_of: inheres_in FMA:20292 ! Oral cavity [Term] id: HP:0010280 ! stomatitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:49184 ! Mouth [Term] id: HP:0011675 ! Arrhythmia intersection_of: PATO:0001845 ! irregular rhythm intersection_of: inheres_in GO:0060047 ! heart contraction [Term] id: HP:0009905 ! Thin ear helix intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:60992 ! Helix [Term] id: HP:0008702 ! Absent internal genitalia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:45652 ! Internal genitalia [Term] id: HP:0008633 ! Absent gonadal tissue intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:9637 ! Portion of tissue intersection_of: inheres_in FMA:18250 ! Gonad [Term] id: HP:0008740 ! Longitudinal vaginal septum intersection_of: PATO:0001854 ! vertical intersection_of: inheres_in_part_of FMA:19949 ! Vagina intersection_of: inheres_in FMA:86461 ! Septum [Term] id: HP:0001105 ! Retinal atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0008220 ! Hypocortisolemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17650 ! Cortisol [Term] id: HP:0008043 ! Constricted retinal arterioles intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in_part_of FMA:58301 ! Retina intersection_of: inheres_in FMA:63182 ! Arteriole [Term] id: HP:0007730 ! Reduced iris pigmentation intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:iris_pigmentation [Term] id: HP:0001000 ! Abnormality of skin pigmentation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:skin_pigmentation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007419 ! Pale pigmentation intersection_of: PATO:0002251 ! decreased pigmentation intersection_of: inheres_in _:skin_pigmentation !!! merged_into HP:0007513 ! Generalized hypopigmentation [Term] id: HP:0000980 ! Pallor intersection_of: PATO:0000328 ! low saturation intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0001022 ! Albinism intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in _:skin_hair_eye intersection_of: towards GO:0006582 ! melanin metabolic process [Term] id: HP:0100012 ! Neoplasia of the eye intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:54448 ! Eye intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0009887 ! Abnormality of hair pigmentation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:hair_pigmentation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100533 ! Inflammatory abnormality of the eye intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0000974 ! Hyperextensible skin intersection_of: PATO:0002287 ! increased elasticity intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0000618 ! Blindness intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0007601 ! visual perception [Term] id: HP:0000613 ! Photophobia intersection_of: PATO:0001698 ! increased photosensitivity intersection_of: inheres_in FMA:54448 ! Eye [Term] id: HP:0007832 ! Pigmentation of the sclera intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:sclera_pigmentation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008365 ! Abnormality of the talus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9708 ! Talus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006400 ! Absent knee epiphyses intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24012 ! Epiphysis intersection_of: inheres_in FMA:24974 ! Knee [Term] id: HP:0006297 ! Hypoplasia of dental enamel intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:55629 ! Enamel intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010290 ! Short hard palate intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:55023 ! Hard palate [Term] id: HP:0006384 ! Club-shaped distal femur intersection_of: PATO:0001883 ! clavate intersection_of: inheres_in_part_of FMA:30327 ! Distal intersection_of: inheres_in FMA:51608 ! Distal end of femur [Term] id: HP:0006406 ! Club-shaped proximal femurs intersection_of: PATO:0001883 ! clavate intersection_of: inheres_in FMA:51607 ! Proximal end of femur [Term] id: HP:0002752 ! Sparse bone trabeculae intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in FMA:24019 ! Trabecular bone [Term] id: HP:0006511 ! Laryngeal stridor intersection_of: HP:0010307 ! Stridor intersection_of: inheres_in FMA:55097 ! Larynx [Term] id: HP:0009937 ! Facial hirsutism intersection_of: HP:0001007 ! Hirsutism intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:54375 ! Nasal septum [Term] id: HP:0010293 ! Aplasia/Hypoplasia of the uvula intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:55022 ! Uvula [Term] id: HP:0010294 ! Palate fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:70 ! fistula intersection_of: inheres_in FMA:54549 ! Palate [Term] id: HP:0100589 ! Urogenital fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:70 ! fistula intersection_of: inheres_in FMA:280610 ! genitourinary system [Term] id: HP:0006731 ! Follicular thyroid carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:278 ! follicular adenocarcinoma intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0006725 ! Pancreatic adenocarcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:268 ! adenocarcinoma intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0008229 ! Thyroid lymphangiectasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:98 ! lymphangiectasis intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0009593 ! Peripheral Schwannoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:438 ! schwannoma [Term] id: HP:0009588 ! Vestibular Schwannoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:434 ! neurilemmoma [Term] id: HP:0006273 ! Pancreatic lymphangiectasis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:98 ! lymphangiectasis intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0002861 ! Malignant melanoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:359 ! melanoma [Term] id: HP:0200022 ! Choroid plexus papilloma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:246 ! Choroid plexus papilloma intersection_of: inheres_in FMA:61934 ! Choroid plexus of cerebral hemisphere [Term] id: HP:0007872 ! Choroidal hemangiomata intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:629 ! cavernous hemangioma intersection_of: inheres_in FMA:61934 ! Choroid plexus of cerebral hemisphere [Term] id: HP:0010295 ! Aplasia/Hypoplasia of the tongue intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:25048 ! Second toe [Term] id: HP:0010328 ! Polydactyly affecting the 2nd toe intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:25048 ! Second toe intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0006114 ! Multiple palmar creases intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:281371 ! palmar crease [Term] id: HP:0010321 ! Abnormality of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:25052 ! Fourth toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010322 ! Abnormality of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:25053 ! Little toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004097 ! Deviated fingers intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0003049 ! Ulnar deviation of the wrist intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:24922 ! Wrist [Term] id: HP:0001822 ! Hallux valgus intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:25047 ! Big toe [Term] id: HP:0006156 ! Ulnar deviation of 1st, 3rd fingers intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009621 ! Ulnar deviation of the thumb intersection_of: has_part HP:0009463 ! Ulnar deviation of the 3rd finger [Term] id: HP:0006022 ! Ulnar deviation of 2nd, 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009464 ! Ulnar deviation of the 2nd finger intersection_of: has_part HP:0009463 ! Ulnar deviation of the 3rd finger [Term] id: HP:0009486 ! Radial deviation of the hand intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:9712 ! Hand [Term] id: HP:0009468 ! Deviation of the 2nd finger intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:24946 ! Index finger [Term] id: HP:0009467 ! Radial deviation of the 2nd finger intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:24946 ! Index finger [Term] id: HP:0009464 ! Ulnar deviation of the 2nd finger intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:24946 ! Index finger [Term] id: HP:0009317 ! Deviation of the 3rd finger intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:24947 ! Middle finger [Term] id: HP:0009462 ! Radial deviation of the 3rd finger intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:24947 ! Middle finger [Term] id: HP:0009463 ! Ulnar deviation of the 3rd finger intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:24947 ! Middle finger [Term] id: HP:0009273 ! Deviation of the 4th finger intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:24948 ! Ring finger [Term] id: HP:0009279 ! Radial deviation of the 4th finger intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:24948 ! Ring finger [Term] id: HP:0009278 ! Ulnar deviation of the 4th finger intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:24948 ! Ring finger [Term] id: HP:0009179 ! Deviation of the 5th finger intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:24949 ! Little finger [Term] id: HP:0004209 ! Clinodactyly of the 5th finger intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:24949 ! Little finger [Term] id: HP:0009180 ! Ulnar deviation of the 5th finger intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:24949 ! Little finger [Term] id: HP:0009487 ! Ulnar deviation of the hand intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:9712 ! Hand [Term] id: HP:0009466 ! Radial deviation of fingers intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0009465 ! Ulnar deviation of fingers intersection_of: PATO:0002176 ! deviation towards the lateral side intersection_of: inheres_in FMA:9666 ! Finger ![Term] !id: HP:0009620 ! Radial deviation of the thumb !intersection_of: PATO:0002177 ! deviation towards the medial side !intersection_of: inheres_in FMA:24938 ! thumb ![Term] !id: HP:0009621 ! Ulnar deviation of the thumb !intersection_of: PATO:0002176 ! deviation towards the lateral side !intersection_of: inheres_in FMA:24938 ! thumb [Term] id: HP:0009485 ! Radial deviation of the hand or of fingers of the hand union_of: HP:0009466 ! Radial deviation of fingers union_of: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand union_of: HP:0009465 ! Ulnar deviation of fingers union_of: HP:0009487 ! Ulnar deviation of the hand [Term] id: HP:0009484 ! Deviation of the hand or of fingers of the hand union_of: _:deviation_of_finger union_of: _:deviation_of_hand ! This should be a named term in HPO [Term] id: _:deviation_of_hand is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:9712 ! Hand ! This should be a named term in HPO [Term] id: _:deviation_of_finger is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0009603 ! Deviation/Displacement of the thumb union_of: _:deviation_of_thumb union_of: _:displacement_of_thumb ! This should be a named term in HPO [Term] id: _:deviation_of_thumb is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:24938 ! Thumb ! This should be a named term in HPO [Term] id: _:displacement_of_thumb is_anonymous: true intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0010326 ! Deviation/Displacement of the 2nd toe union_of: _:deviation_of_second_toe union_of: _:displacement_of_second_toe ! This should be a named term in HPO [Term] id: _:deviation_of_second_toe is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:25048 ! Second toe ! This should be a named term in HPO [Term] id: _:displacement_of_second_toe is_anonymous: true intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:25048 ! Second toe [Term] id: HP:0010338 ! Deviation/Displacement of the 4th toe union_of: _:deviation_of_fourth_toe union_of: _:displacement_of_fourth_toe ! This should be a named term in HPO [Term] id: _:deviation_of_fourth_toe is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:25052 ! Fourth toe ! This should be a named term in HPO [Term] id: _:displacement_of_fourth_toe is_anonymous: true intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:25052 ! Fourth toe [Term] id: HP:0010332 ! Deviation/Displacement of the 3rd toe union_of: _:deviation_of_third_toe union_of: _:displacement_of_third_toe ! This should be a named term in HPO [Term] id: _:deviation_of_third_toe is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:25051 ! Third toe ! This should be a named term in HPO [Term] id: _:displacement_of_third_toe is_anonymous: true intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:25051 ! Third toe ! This should be a named term in HPO [Term] id: HP:0010344 ! Deviation/Displacement of the 5th toe union_of: _:deviation_of_fifth_toe union_of: _:displacement_of_fifth_toe [Term] id: _:deviation_of_fifth_toe is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:25053 ! Little toe ! This should be a named term in HPO [Term] id: _:displacement_of_fifth_toe is_anonymous: true intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:25053 ! Little toe [Term] id: HP:0010051! Deviation/Displacement of the hallux union_of: _:deviation_of_hallux union_of: _:displacement_of_hallux ! This should be a named term in HPO [Term] id: _:deviation_of_hallux is_anonymous: true intersection_of: PATO:0002175 ! deviation intersection_of: inheres_in FMA:25047 ! Big toe ! This should be a named term in HPO [Term] id: _:displacement_of_hallux is_anonymous: true intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:25047 ! Big toe ! This should be a named term in HPO [Term] id: _:hypoplastic_fourth_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:25052 ! Fourth toe ! This should be a named term in HPO [Term] id: _:aplastic_fourth_toe is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:25052 ! Fourth toe [Term] id: HP:0000003 ! Multicystic kidney dysplasia intersection_of: PATO:0002089 ! polycystic intersection_of: inheres_in FMA:7203 ! Kidney ! The definitions here are complex.... we need to think ti further [Term] id: HP:0000113 ! Polycystic kidney dysplasia intersection_of: PATO:0002089 ! polycystic intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0005926 ! Abnormalities of the cortex of hand bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:61109 ! Cortex intersection_of: inheres_in_part_of FMA:5018 ! Bone organ intersection_of: inheres_in_part_of FMA:9712 ! Hand intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000292 ! Loss of facial adipose tissue intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: inheres_in FMA:24728 ! Face intersection_of: towards FMA:20110 ! Adipose tissue [Term] id: HP:0008684 ! Aplasia/hypoplasia of the uterus intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:17558 ! Uterus [Term] id: HP:0006571 ! Reduced number of intrahepatic bile ducts intersection_of: PATO:0001999 ! lacks parts or has fewer parts of type intersection_of: towards FMA:15766 ! Intrahepatic bile duct [Term] id: HP:0010537 ! Wide cranial sutures intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:7493 ! Suture [Term] id: HP:0001363 ! Craniosynostosis intersection_of: PATO:0002166 ! premature closure intersection_of: inheres_in UBERON:0000969 ! suture [Term] id: HP:0010538 ! Small sella turcica intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:54709 ! Sella turcica [Term] id: HP:0010254 ! Small epiphyses of the distal phalanges of the hand intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:75818 ! Distal phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010023 ! Small epiphysis of the 1st metacarpal intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010477 ! Aplasia of the bladder intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0010478 ! Abnormality of the urachus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:70343 ! Urachus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010480 ! Urethral fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:70 ! fistula intersection_of: inheres_in FMA:19667 ! Urethra [Term] id: HP:0010513 ! Pituitary calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:13889 ! Pituitary gland [Term] id: HP:0010515 ! Aplasia/Hypoplasia of the thymus intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:9607 ! Thymus [Term] id: HP:0100521 ! Neoplasia of the thymus intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9607 ! Thymus intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0010516 ! Thymus hyperplasia intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:9607 ! Thymus [Term] id: HP:0010517 ! Ectopic thymus tissue intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in_part_of FMA:9607 ! Thymus intersection_of: inheres_in FMA:9637 ! Portion of tissue [Term] id: HP:0009740 ! Aplasia of the parotid gland intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:59790 ! Parotid gland [Term] id: HP:0009925 ! Aplasia of the eyelids intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:54437 ! Eyelid !!! merged_into HP:0011224 ! Ablepharon [Term] id: HP:0009927 ! Aplasia of the nose intersection_of: PATO:0000617 ! bent intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0010447 ! Anal fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:70 ! fistula intersection_of: inheres_in FMA:15711 ! Anus [Term] id: HP:0010448 ! Colonic atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:14543 ! Colon [Term] id: HP:0002583 ! Colitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:14543 ! Colon intersection_of: towards MPATH:212 ! inflammation ! merge HP:0002043 == HP:0010450 [Term] id: HP:0010450 ! Esophageal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:9398 ! Lumen of esophagus [Term] id: HP:0010451 ! Aplasia/Hypoplasia of the spleen intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:7196 ! Spleen [Term] id: HP:0100245 ! Desmoid tumors intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:723 ! fibromatosis [Term] id: HP:0010476 ! Aplasia/Hypoplasia of the bladder intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0006483 ! Abnormal number of teeth intersection_of: PATO:0001555 ! has number of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12516 ! Tooth [Term] id: HP:0010975 ! Abnormality of B cell number intersection_of: PATO:0001555 ! has number of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CL:0000236 ! B cell [Term] id: HP:0011064 ! Abnormal number of incisors intersection_of: PATO:0001555 ! has number of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12823 ! Incisor tooth [Term] id: HP:0011062 ! Misalignment of incisors intersection_of: PATO:0001654 ! misaligned with intersection_of: inheres_in FMA:12823 ! Incisor tooth intersection_of: towards FMA:12823 ! Incisor tooth [Term] id: HP:0000668 ! Hypodontia intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards FMA:12516 ! Tooth [Term] id: HP:0009804 ! Reduced number of teeth intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000668 ! Hypodontia intersection_of: has_part HP:0000674 ! Anodontia [Term] id: HP:0007722 ! Loss of retinal pigment epithelium intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:58627 ! Pigmented layer of retina intersection_of: towards FMA:9639 ! Portion of epithelium [Term] id: HP:0010593 ! Abnormality of fibular epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33726 ! Epiphysis of fibula intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010575 ! Dysplasia of the femoral head intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:32851 ! Head of femur [Term] id: HP:0010509 ! Aplasia of the tarsal bones intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24491 ! Tarsal bone [Term] id: HP:0010511 ! Increased length of toes intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0003085 ! Disproportionately long fibulae intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:24479 ! Fibula [Term] id: HP:0010484 ! Hypertrophy of the upper limb intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:7183 ! Upper limb [Term] id: HP:0010486 ! Abnormality of the hypothenar eminence intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61523 ! Hypothenar eminence intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010991 ! Abnormality of the abdominal musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:86917 ! Musculature of abdomen intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002921 ! Abnormality of the cerebrospinal fluid intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:20935 ! Cerebrospinal fluid intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100536 ! Abnormality of the fascia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:30318 ! Fascia cluster intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001974 ! Leukocytosis intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CL:0000738 ! leukocyte [Term] id: HP:0010487 ! Hypoplasia of the hypothenar eminence intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:61523 ! Hypothenar eminence [Term] id: HP:0010493 ! Increased length of metacarpals intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0005721 ! Thenar and hypothenar hypoplasia intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001245 ! Thenar hypoplasia intersection_of: has_part HP:0010487 ! Hypoplasia of the hypothenar eminence [Term] id: HP:0006199 ! Short, broad distal phalanges intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009836 ! Broad distal phalanges of the hand intersection_of: has_part HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0001221 ! Short, thick distal phalanges intersection_of: PATO:0000001 ! quality intersection_of: has_part _:thick_distal_phalanx intersection_of: has_part HP:0009882 ! Hypoplasia of the distal phalanges of the hand ! This should be a named HP term [Term] id: _:thick_distal_phalanx is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:75818 ! Distal phalanx of finger [Term] id: HP:0009085 ! Alveolar ridge overgrowth intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in UBERON:0004103 ! alveolar ridge [Term] id: HP:0006146 ! Thin metacarpals with broad epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part _:thin_metacarpal_bone intersection_of: has_part _:broad_metacarpal_bone_epiphysis ! This should be a named HP term [Term] id: _:thin_metacarpal_bone is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: _:broad_metacarpal_bone_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0100040 ! Broad 2nd toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:25048 ! Second toe [Term] id: HP:0010496 ! Hypertrophy of the lower limb intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0010502 ! Fibular bowing intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:24479 ! Fibula [Term] id: HP:0010504 ! Increased length of the tibia intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:24476 ! Tibia [Term] id: HP:0010507 ! Foot asymmetry intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:9664 ! Foot ![Term] !id: HP:0001762 ! Talipes equinovarus !intersection_of: PATO:0001883 ! clavate !intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0000799 ! Fatty kidneys intersection_of: PATO:0002114 ! fatty intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000828 ! Abnormality of the parathyroid gland intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:13890 ! Parathyroid gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002143 ! Abnormality of the spinal cord intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7647 ! Spinal cord intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100543 ! Cognitive impairment intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0050890 ! cognition intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002823 ! Abnormality of the femur intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9611 ! Femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003063 ! Abnormality of the humerus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:13303 ! Humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004014 ! Wide/broad radial epiphyseal plates intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:34354 ! Epiphyseal plate of radius [Term] id: HP:0004232 ! Accessory carpal bones intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0004244 ! Accessory scaphoid intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in FMA:23709 ! Scaphoid [Term] id: HP:0004249 ! Accessory lunate intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in FMA:23712 ! Lunate [Term] id: HP:0001430 ! Abnormality of the calf musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:24984 ! Posterior part of leg intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001437 ! Abnormality of the musculature of the lower limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:7184 ! Lower limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001446 ! Abnormality of the musculature of the upper limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:7183 ! Upper limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:7183 ! Upper limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003843 ! Round epiphyses of the upper limbs intersection_of: PATO:0000411 ! round intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0006026 ! Rounded epiphyses intersection_of: PATO:0000411 ! round intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0003846 ! Wide/broad epiphyseal plates of the upper limbs intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75427 ! Epiphysial plate intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0003856 ! Wide/broad metaphyses of the upper limbs intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24014 ! Metaphysis intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0006490 ! Abnormality of lower-limb metaphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24014 ! Metaphysis intersection_of: inheres_in_part_of FMA:7184 ! Lower limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003861 ! Wide/broad diaphyses of the upper limbs intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24013 ! Diaphysis intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0003904 ! Wide/broad epiphyses of the upper limbs intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0003905 ! Abnormality of the humeral epiphyseal plate intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75427 ! Epiphysial plate intersection_of: inheres_in_part_of FMA:13303 ! Humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005913 ! Abnormality of metacarpal epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33792 ! Epiphysis of metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005923 ! Abnormalities of the metaphyses of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24014 ! Metaphysis intersection_of: inheres_in_part_of FMA:9712 ! Hand intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005925 ! Abnormalities of the diaphyses of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24013 ! Diaphysis intersection_of: inheres_in_part_of FMA:9712 ! Hand intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006040 ! Long second metacarpal intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:23900 ! Second metacarpal bone [Term] id: HP:0006094 ! Finger joint hypermobility intersection_of: PATO:0002282 ! increased mobility intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:9666 ! Finger [Term] id: HP:0006201 ! Hypermobility of distal interphalangeal joints intersection_of: PATO:0002282 ! increased mobility intersection_of: inheres_in FMA:65024 ! Distal interphalangeal joint [Term] id: HP:0010510 ! Hypermobility of toe joints intersection_of: PATO:0002282 ! increased mobility intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:25046 ! Toe [Term] id: HP:0001382 ! Joint hypermobility intersection_of: PATO:0002282 ! increased mobility intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0008079 ! Absent 5th metatarsals intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24506 ! Fifth metatarsal bone [Term] id: HP:0009127 ! Abnormality of the musculature of the limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:7182 ! Limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002983 ! Micromelia intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0006506 ! Abnormality involving the metaphyses of the limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24014 ! Metaphysis intersection_of: inheres_in_part_of FMA:7182 ! Limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009184 ! Contracture of the distal interphalangeal joint of the 5th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65024 ! Distal interphalangeal joint intersection_of: inheres_in_part_of FMA:24949 ! Little finger [Term] id: HP:0009185 ! Contracture of the proximal interphalangeal joint of the 5th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint intersection_of: inheres_in_part_of FMA:24949 ! Little finger [Term] id: HP:0009186 ! Contracture of the metacarpophalangeal joint of the 5th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35246 ! Metacarpophalangeal joint intersection_of: inheres_in_part_of FMA:24949 ! Little finger [Term] id: HP:0009238 ! Aplasia of the 5th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24949 ! Little finger [Term] id: HP:0009275 ! Contracture of the distal interphalangeal joint of the 4th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65024 ! Distal interphalangeal joint intersection_of: inheres_in_part_of FMA:24948 ! Ring finger [Term] id: HP:0009276 ! Contracture of the proximal interphalangeal joint of the 4th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint intersection_of: inheres_in_part_of FMA:24948 ! Ring finger [Term] id: HP:0009277 ! Contracture of the metacarpophalangeal joint of the 4th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35246 ! Metacarpophalangeal joint intersection_of: inheres_in_part_of FMA:24948 ! Ring finger [Term] id: HP:0100360 ! Contractures of the joints of the upper limbs intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:25874 ! Joint of upper limb [Term] id: HP:0009281 ! Aplasia of the 4th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24948 ! Ring finger [Term] id: HP:0009382 ! Absent epiphyses of the 5th finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:35489 ! Phalanx of little finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009834 ! Abnormality of the proximal phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009852 ! Broad proximal phalanges of the hand intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0010241 ! Hypoplasia of the proximal phalanges of the hand intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0009853 ! Bullet-shaped proximal phalanges of the hand intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0009854 ! Curved proximal phalanges of the hand intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0010000 ! Complete duplication of the proximal phalanges of the hand intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0010003 ! Partial duplication of the proximal phalanges of the hand intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger [Term] id: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the hand union_of: HP:0010000 ! Complete duplication of the proximal phalanges of the hand union_of: HP:0010003 ! Partial duplication of the proximal phalanges of the hand [Term] id: HP:0010009 ! Abnormality of the 1st metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23899 ! First metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010010 ! Abnormality of the 2nd metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23900 ! Second metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010011 ! Abnormality of the 3rd metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23901 ! Third metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010012 ! Abnormality of the 4th metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23902 ! Fourth metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010013 ! Abnormality of the 5th metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23903 ! Fifth metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009697 ! Contractures of the distal interphalangeal joints of the fingers intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65024 ! Distal interphalangeal joint intersection_of: inheres_in_part_of FMA:9666 ! Finger [Term] id: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:24967 ! Thigh [Term] id: HP:0009535 ! Aplasia of the 2nd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24946 ! Index finger [Term] id: HP:0009538 ! Contracture of the distal interphalangeal joint of the 2nd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65024 ! Distal interphalangeal joint intersection_of: inheres_in_part_of FMA:24946 ! Index finger [Term] id: HP:0009539 ! Contracture of the metacarpophalangeal joint of the 2nd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35246 ! Metacarpophalangeal joint intersection_of: inheres_in_part_of FMA:24946 ! Index finger [Term] id: HP:0009540 ! Contracture of the proximal interphalangeal joint of the 2nd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint intersection_of: inheres_in_part_of FMA:24946 ! Index finger [Term] id: HP:0009556 ! Aplasia of the tibia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24476 ! Tibia [Term] id: HP:0009615 ! duplicated 1st metacarpal intersection_of: PATO:0001473 ! duplicated intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0009616 ! bifid 1st metacarpal intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0009609 ! Partial/complete duplication of the 1st metacarpal union_of: HP:0009615 ! duplicated 1st metacarpal union_of: HP:0009616 ! bifid 1st metacarpal [Term] id: HP:0009617 ! Abnormality of the distal phalanx of the thumb intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009684 ! Stippling of the epiphysis of the distal phalanx of the thumb intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009619 ! Accessory phalanx of the thumb intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009460 ! Aplasia of the 3rd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24947 ! Middle finger [Term] id: HP:0000028 ! Cryptorchidism intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0008734 ! Decreased testicular size intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0010470 ! Supernumerary testes intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:7210 ! Testis [Term] id: HP:0000291 ! Abnormality of facial adipose tissue intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:20110 ! Adipose tissue intersection_of: inheres_in_part_of FMA:24728 ! Face intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000630 ! Abnormality of retinal arteries intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:50720 ! Artery intersection_of: inheres_in_part_of FMA:58301 ! Retina intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008796 ! Externally rotated hips intersection_of: PATO:0002156 ! laterally rotated intersection_of: inheres_in FMA:24964 ! Hip [Term] id: HP:0008482 ! Asymmetry of spinal facet joints intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:10447 ! Vertebral arch joint intersection_of: inheres_in_part_of FMA:13478 ! Vertebral column [Term] id: HP:0008046 ! Abnormality of the retinal vasculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:69050 ! Vasculature intersection_of: inheres_in_part_of FMA:58301 ! Retina intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007403 ! Hypertrophy of skin of soles intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:37849 ! Skin of sole of foot [Term] id: HP:0006659 ! Internally rotated shoulders intersection_of: PATO:0002155 ! medially rotated intersection_of: inheres_in FMA:25202 ! Shoulder [Term] id: HP:0005938 ! Ciliary dysgenesis intersection_of: PATO:0002019 ! aplastic growth intersection_of: inheres_in GO:0005929 ! cilium [Term] id: HP:0004660 ! hypoplasia of facial musculature intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:71288 ! Musculature of face [Term] id: HP:0009650 ! Hypoplastic/small distal phalanx of the thumb intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0006344 ! Abnormality of primary molar morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:84206 ! Primary molar tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001999 ! Facial dysmorphism intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:24728 ! Face intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger !!! $$$ [Term] id: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010265 ! Small epiphyses of the middle phalanges of the hand intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010074 ! Triangular shaped 1st metatarsal intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0000200 ! Short lingual frenulum intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:54659 ! Frenulum of tongue [Term] id: HP:0009171 ! Triangular epiphyses of the metacarpals intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0009191 ! Ivory epiphyses of the metacarpals intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0010025 ! Triangular epiphysis of the 1st metacarpal intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010159 ! Triangular epiphysis of the 1st metatarsal intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0009392 ! Triangular epiphyses of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:35489 ! Phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010115 ! Cone-shaped epiphyses of the hallux intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010017 ! Cone-shaped epiphysis of the 1st metacarpal intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009686 ! Absent epiphyses of the thumb intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24938 ! Thumb [Term] id: HP:0009687 ! Bracket epiphyses of the thumb intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:24938 ! Thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009692 ! Ivory epiphyses of the thumb intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:24938 ! Thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:75817 ! Middle phalanx of finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009696 ! Triangular epiphyses of the thumb intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:24938 ! Thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger ! This should be a named term in HPO [Term] id: _:hypoplastic_quadriceps_femoris is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:22428 ! Quadriceps femoris [Term] id: HP:0009788 ! Quadriceps aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:22428 ! Quadriceps femoris [Term] id: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23899 ! First metacarpal bone intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010015 ! Absent epiphysis of the 1st metacarpal intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23899 ! First metacarpal bone intersection_of: towards FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010016 ! Bracket epiphysis of the 1st metacarpal intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010021 ! Ivory epiphysis of the 1st metacarpal intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010018 ! Enlarged epiphysis of the 1st metacarpal intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:33793 ! Epiphysis of first metacarpal bone [Term] id: HP:0010116 ! Enlarged epiphyses of the hallux intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0002867 ! Abnormality of the ilium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:16589 ! Ilium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009569 ! Broad middle phalanx of the 2nd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009571 ! Curved middle phalanx of the 2nd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0002836 !Bladder exstrophy intersection_of: PATO:0001597 ! everted intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0005774 ! Absent middle phalanges of fingers 2 and 5 intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009162 ! Aplasia of the middle phalanx of the 5th finger intersection_of: has_part HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger [Term] id: HP:0010670 ! Aplasia/Hypoplasia of the fifth metatarsal bone union_of: HP:0008079 ! Absent 5th metatarsals union_of: HP:0010671 ! Hypoplasia of the fifth metatarsal bone [Term] id: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger union_of: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger union_of: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger union_of: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger [Term] id: HP:0005760 ! Index fingers short with absent middle phalanges intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010239 ! Aplasia of the middle phalanges of the hand intersection_of: has_part HP:0009576 ! Absent middle phalanx of 2nd finger [Term] id: HP:0005807 ! Absent distal phalanges intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:75818 ! Distal phalanx of finger [Term] id: HP:0006082 ! Absent distal and middle phalanges intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0005807 ! Absent distal phalanges intersection_of: has_part HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger [Term] id: HP:0009577 ! Hypoplastic/small middle phalanx of the 2nd finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0000946 ! Hypoplastic ilia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:16589 ! Ilium [Term] id: HP:0009575 ! Triangular shaped middle phalanx of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009952 ! Complete duplication of the middle phalanx of the 2nd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009953 ! Partial duplication of the middle phalanx of the 2nd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009949 ! Partial/complete duplication of the middle phalanx of the 2nd finger union_of: HP:0009952 ! Complete duplication of the middle phalanx of the 2nd finger union_of: HP:0009953 ! Partial duplication of the middle phalanx of the 2nd finger [Term] id: HP:0009572 ! Osteolytic defects of the middle phalanx of the 2nd finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009570 ! Bullet-shaped middle phalanx of the 2nd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0100904 ! Sclerosis of the middle phalanx of the 2nd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009573 ! Patchy sclerosis of the middle phalanx of the 2nd finger intersection_of: HP:0100904 ! Sclerosis of the middle phalanx of the 2nd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0100945 ! Sclerosis of the 1st metatarsal intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010072 ! Patchy sclerosis of the 1st metatarsal intersection_of: HP:0100945 ! Sclerosis of the 1st metatarsal intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009430 ! Broad middle phalanx of the 3rd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009432 ! Curved middle phalanx of the 3rd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009438 ! Aplasia of the middle phalanx of the 3rd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009439 ! Hypoplastic/small middle phalanx of the 3rd finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009436 ! Triangular shaped middle phalanx of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010157 ! Small epiphysis of the 1st metatarsal intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0009966 ! Complete duplication of the middle phalanx of the 3rd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009969 ! Partial duplication of the middle phalanx of the 3rd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009963 ! Partial/complete duplication of the middle phalanx of the 3rd finger union_of: HP:0009966 ! Complete duplication of the middle phalanx of the 3rd finger union_of: HP:0009969 ! Partial duplication of the middle phalanx of the 3rd finger [Term] id: HP:0009433 ! Osteolytic defects of the middle phalanx of the 3rd finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009431 ! Bullet-shaped middle phalanx of the 3rd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0100905 ! Sclerosis of the middle phalanx of the 3rd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0100901 ! Sclerosis of the distal phalanx of the 3rd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger [Term] id: HP:0009434 ! Patchy sclerosis of the middle phalanx of the 3rd finger intersection_of: HP:0100905 ! Sclerosis of the middle phalanx of the 3rd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009293 ! Broad middle phalanx of the 4th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009287 ! Curved middle phalanx of the 4th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009294 ! Aplasia of the middle phalanx of the 4th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009295 ! Hypoplastic/small middle phalanx of the 4th finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009309 ! Triangular shaped middle phalanx of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009979 ! Complete duplication of the middle phalanx of the 4th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009982 ! Partial duplication of the middle phalanx of the 4th finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009976 ! Partial/complete duplication of the middle phalanx of the 4th finger union_of: HP:0009979 ! Complete duplication of the middle phalanx of the 4th finger union_of: HP:0009982 ! Partial duplication of the middle phalanx of the 4th finger [Term] id: HP:0009297 ! Osteolytic defects of the middle phalanx of the 4th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009296 ! Bullet-shaped middle phalanx of the 4th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0100906 ! Sclerosis of the middle phalanx of the 4th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009307 ! Patchy sclerosis of the middle phalanx of the 4th finger intersection_of: HP:0100906 ! Sclerosis of the middle phalanx of the 4th finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009169 ! Broad middle phalanx of the 5th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009173 ! Curved middle phalanx of the 5th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0006058 ! Cone-shaped epiphyses of middle and proximal phalanges intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand intersection_of: has_part HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand [Term] id: HP:0006196 ! Bifid terminal phalanges digits 2 and 3 intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009951 ! Partial duplication of the distal phalanx of the 2nd finger intersection_of: has_part HP:0009968 ! Partial duplication of the distal phalanx of the 3rd finger [Term] id: HP:0009162 ! Aplasia of the middle phalanx of the 5th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009992 ! Complete duplication of the middle phalanx of the 5th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009995 ! Partial duplication of the middle phalanx of the 5th finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009989 ! Partial/complete duplication of the middle phalanx of the 5th finger union_of: HP:0009992 ! Complete duplication of the middle phalanx of the 5th finger union_of: HP:0009995 ! Partial duplication of the middle phalanx of the 5th finger [Term] id: HP:0009170 ! Osteolytic defects of the middle phalanx of the 5th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009168 ! Bullet-shaped middle phalanx of the 5th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0100907 ! Sclerosis of the middle phalanx of the 5th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009175 ! Patchy sclerosis of the middle phalanx of the 5th finger intersection_of: HP:0100907 ! Sclerosis of the middle phalanx of the 5th finger intersection_of: qualifier PATO:0001608 ! patchy ![Term] !id: HP:0004121 ! Radially displaced proximal index finger phalanx !intersection_of: PATO:0002178 ! mislocalised radially !intersection_of: inheres_in FMA:23919 ! Proximal phalanx of second finger [Term] id: HP:0009581 ! Broad proximal phalanx of the 2nd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009583 ! Curved proximal phalanx of the 2nd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009596 ! Aplasia of the proximal phalanx of the 2nd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009597 ! Hypoplastic/small proximal phalanx of the 2nd finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009587 ! Triangular shaped proximal phalanx of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009954 ! Complete duplication of the proximal phalanx of the 2nd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009955 ! Partial duplication of the proximal phalanx of the 2nd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009947 ! Partial/complete duplication of the proximal phalanx of the 2nd finger union_of: HP:0009954 ! Complete duplication of the proximal phalanx of the 2nd finger union_of: HP:0009955 ! Partial duplication of the proximal phalanx of the 2nd finger [Term] id: HP:0009584 ! Osteolytic defects of the proximal phalanx of the 2nd finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009582 ! Bullet-shaped proximal phalanx of the 2nd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0100908 ! Sclerosis of the proximal phalanx of the 2nd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009585 ! Patchy sclerosis of the proximal phalanx of the 2nd finger intersection_of: HP:0100908 ! Sclerosis of the proximal phalanx of the 2nd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009450 ! Broad proximal phalanx of the 3rd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009452 ! Curved proximal phalanx of the 3rd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009458 ! Aplasia of the proximal phalanx of the 3rd finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009459 ! Hypoplastic/small proximal phalanx of the 3rd finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009456 ! Triangular shaped proximal phalanx of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009967 ! Complete duplication of the proximal phalanx of the 3rd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009970 ! Partial duplication of the proximal phalanx of the 3rd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009964 ! Partial/complete duplication of the proximal phalanx of the 3rd finger union_of: HP:0009967 ! Complete duplication of the proximal phalanx of the 3rd finger union_of: HP:0009970 ! Partial duplication of the proximal phalanx of the 3rd finge [Term] id: HP:0009453 ! Osteolytic defects of the proximal phalanx of the 3rd finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009451 ! Bullet-shaped proximal phalanx of the 3rd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0100909 ! Sclerosis of the proximal phalanx of the 3rd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0009454 ! Patchy sclerosis of the proximal phalanx of the 3rd finger intersection_of: HP:0100909 ! Sclerosis of the proximal phalanx of the 3rd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009310 ! Broad proximal phalanx of the 4th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009288 ! Curved proximal phalanx of the 4th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009298 ! Aplasia of the proximal phalanx of the 4th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009301 ! Hypoplastic/small proximal phalanx of the 4th finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009315 ! Triangular shaped proximal phalanx of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger union_of: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger union_of: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger union_of: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger [Term] id: HP:0009980 ! Complete duplication of the proximal phalanx of the 4th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009983 ! Partial duplication of the proximal phalanx of the 4th finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009977 ! Partial/complete duplication of the proximal phalanx of the 4th finger union_of: HP:0009950 ! Complete duplication of the distal phalanx of the 2nd finger union_of: HP:0009983 ! Partial duplication of the proximal phalanx of the 4th finger [Term] id: HP:0009312 ! Osteolytic defects of the proximal phalanx of the 4th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009311 ! Bullet-shaped proximal phalanx of the 4th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0100910 ! Sclerosis of the proximal phalanx of the 4th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger [Term] id: HP:0009313 ! Patchy sclerosis of the proximal phalanx of the 4th finger intersection_of: HP:0100910 ! Sclerosis of the proximal phalanx of the 4th finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009227 ! Broad proximal phalanx of the 5th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009229 ! Curved proximal phalanx of the 5th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009225 ! Aplasia of the proximal phalanx of the 5th finger intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009226 ! Hypoplastic/small proximal phalanx of the 5th finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009993 ! Complete duplication of the proximal phalanx of the 5th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009996 ! Partial duplication of the proximal phalanx of the 5th finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009990 ! Partial/complete duplication of the proximal phalanx of the 5th finger union_of: HP:0009993 ! Complete duplication of the proximal phalanx of the 5th finger union_of: HP:0009996 ! Partial duplication of the proximal phalanx of the 5th finger [Term] id: HP:0100911 ! Sclerosis of the proximal phalanx of the 5th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009231 ! Patchy sclerosis of the proximal phalanx of the 5th finger intersection_of: HP:0100911 ! Sclerosis of the proximal phalanx of the 5th finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009177 ! Symphalangism of the middle and proximal phalanges of the 5th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger intersection_of: towards FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger intersection_of: towards FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009230 ! Osteolytic defects of the proximal phalanx of the 5th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009228 ! Bullet-shaped proximal phalanx of the 5th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger [Term] id: HP:0009234 ! Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23922 ! Proximal phalanx of little finger intersection_of: towards FMA:23903 ! Fifth metacarpal bone [Term] id: HP:0009635 ! Symphalangism affecting the proximal phalanx of the thumb intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb intersection_of: towards FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0009654 ! Osteolytic defects of the phalanges of the thumb intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0009652 ! Bullet-shaped phalanges of the thumb intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0100922 ! Sclerosis of the phalanges of the thumb intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0009655 ! Patchy sclerosis of the phalanges of the thumb intersection_of: HP:0100922 ! Sclerosis of the phalanges of the thumb intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010209 ! Symphalangism affecting the proximal phalanges of the toes intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe intersection_of: towards FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0009244 ! Symphalangism affecting the distal phalanx of the 5th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger intersection_of: towards FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009178 ! Symphalangism affecting the middle phalanx of the 5th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23936 ! Middle phalanx of little finger intersection_of: towards FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009308 ! Symphalangism affecting the middle phalanx of the 4th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23935 ! Middle phalanx of ring finger intersection_of: towards FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger intersection_of: towards FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009435 ! Symphalangism affecting the middle phalanx of the 3rd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23934 ! Middle phalanx of middle finger intersection_of: towards FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger intersection_of: towards FMA:23936 ! Middle phalanx of little finger [Term] id: HP:0009305 ! Symphalangism affecting the distal phalanx of the 4th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger intersection_of: towards FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009477 ! Symphalangism of the middle and proximal phalanges of the 4th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger intersection_of: towards FMA:23935 ! Middle phalanx of ring finger [Term] id: HP:0009478 ! Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23921 ! Proximal phalanx of ring finger intersection_of: towards FMA:23902 ! Fourth metacarpal bone [Term] id: HP:0009426 ! Symphalangism affecting the distal phalanx of the 3rd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger intersection_of: towards FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009482 ! Symphalangism of the middle and proximal phalanges of the 3rd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger intersection_of: towards FMA:23934 ! Middle phalanx of middle finger [Term] id: HP:0009483 ! Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23920 ! Proximal phalanx of middle finger intersection_of: towards FMA:23901 ! Third metacarpal bone [Term] id: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger intersection_of: towards FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009574 ! Symphalangism affecting the middle phalanx of the 2nd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger intersection_of: towards FMA:23919 ! Proximal phalanx of index finger [Term] id: HP:0009563 ! Symphalangism affecting the distal phalanx of the 2nd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger intersection_of: towards FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009579 ! Symphalangism of the middle and proximal phalanges of the 2nd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger intersection_of: towards FMA:23933 ! Middle phalanx of index finger [Term] id: HP:0009598 ! Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23919 ! Proximal phalanx of index finger intersection_of: towards FMA:23900 ! Second metacarpal bone [Term] id: HP:0009647 ! Symphalangism affecting the distal phalanx of the thumb intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb intersection_of: towards FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009640 ! Symphalangism of the proximal phalanx of the thumb with the 1st metatcarpal intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb intersection_of: towards FMA:23899 ! First metacarpal bone [Term] id: HP:0010030 ! Osteolytic defects of the 1st metacarpal intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0100914 ! Sclerosis of the 1st metacarpal intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0010031 ! Patchy sclerosis of the 1st metacarpal intersection_of: HP:0100914 ! Sclerosis of the 1st metacarpal intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010028 ! Bullet-shaped 1st metacarpal intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0009633 ! Osteolytic defects of the proximal phalanx of the thumb intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0009703 ! Synostosis involving the 1st metacarpal intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:23899 ! First metacarpal bone intersection_of: towards FMA:23899 ! First metacarpal bone [Term] id: HP:0010073 ! Synostosis involving the 1st metatarsal intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:24502 ! First metatarsal bone intersection_of: towards FMA:24502 ! First metatarsal bone [Term] id: HP:0010071 ! Osteolytic defects of the 1st metatarsal intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010069 ! Bullet-shaped 1st metatarsal intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:24502 ! First metatarsal bone [Term] id: HP:0010082 ! Symphalangism affecting the distal phalanx of the hallux intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe intersection_of: towards FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010096 ! Complete duplication of the distal phalanx of the hallux intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010097 ! Partial duplication of the distal phalanx of the hallux intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010084 ! Partial/complete duplication of the distal phalanx of the hallux union_of: HP:0010096 ! Complete duplication of the distal phalanx of the hallux union_of: HP:0010097 ! Partial duplication of the distal phalanx of the hallux [Term] id: HP:0010080 ! Osteolytic defects of the distal phalanx of the hallux intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010078 ! Bullet-shaped distal phalanx of the hallux intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0100944 ! Sclerosis of the distal phalanx of the hallux intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010081 ! Patchy sclerosis of the distal phalanx of the hallux intersection_of: HP:0100944 ! Sclerosis of the distal phalanx of the hallux intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010200 ! Symphalangism affecting the middle phalanges of the toes intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe intersection_of: towards FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010198 ! Osteolytic defects of the middle phalanges of the toes intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0100947 ! Sclerosis of the middle phalanges of the toes intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010199 ! Patchy sclerosis of the middle phalanges of the toes intersection_of: HP:0100947 ! Sclerosis of the middle phalanges of the toes intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe intersection_of: towards FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010094 ! Complete duplication of the proximal phalanx of the hallux intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010095 ! Partial duplication of the proximal phalanx of the hallux intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010093 ! Partial/complete duplication of the proximal phalanx of the hallux union_of: HP:0010094 ! Complete duplication of the proximal phalanx of the hallux union_of: HP:0010095 ! Partial duplication of the proximal phalanx of the hallux [Term] id: HP:0010089 ! Osteolytic defects of the proximal phalanx of the hallux intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010087 ! Bullet-shaped proximal phalanx of the hallux intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010179 ! Symphalangism affecting the phalanges of the toes intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:24493 ! Phalanx of toe intersection_of: towards FMA:24493 ! Phalanx of toe [Term] id: HP:0010177 ! Osteolytic defects of the phalanges of the toes intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0010181 ! Partial/complete duplication of the phalanges of the toes intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:24493 ! Phalanx of toe [Term] id: HP:0010175 ! Bullet-shaped phalanges of the toes intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0010207 ! Osteolytic defects of the proximal phalanges of the toes intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0100946 ! Sclerosis of the proximal phalanges of the toes intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0010208 ! Patchy sclerosis of the proximal phalanges of the toes intersection_of: HP:0100946 ! Sclerosis of the proximal phalanges of the toes intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0100943 ! Sclerosis of the proximal phalanx of the hallux intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010090 ! Patchy sclerosis of the proximal phalanx of the hallux intersection_of: HP:0100943 ! Sclerosis of the proximal phalanx of the hallux intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010191 ! Symphalangism affecting the distal phalanges of the toes intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe intersection_of: towards FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0100948 ! Sclerosis of the distal phalanges of the toes intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010190 ! Patchy sclerosis of the distal phalanges of the toes intersection_of: HP:0100948 ! Sclerosis of the distal phalanges of the toes intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32899 ! Phalanx of second toe intersection_of: towards FMA:32899 ! Phalanx of second toe [Term] id: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32900 ! Phalanx of third toe intersection_of: towards FMA:32900 ! Phalanx of third toe [Term] id: HP:0010367 ! Partial/complete duplication of the phalanges of the 3rd toe intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32900 ! Phalanx of third toe [Term] id: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe intersection_of: towards FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32902 ! Phalanx of little toe intersection_of: towards FMA:32902 ! Phalanx of little toe [Term] id: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe intersection_of: towards FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010399 ! Osteolytic defects of the proximal phalanx of the 2nd toe intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010397 ! Bullet-shaped proximal phalanx of the 2nd toe intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe intersection_of: towards FMA:32623 ! Middle phalanx of second toe !XXX [Term] id: HP:0010409 ! Patchy sclerosis of the middle phalanx of the 2nd toe intersection_of: HP:0100935 ! Sclerosis of the middle phalanx of the 2nd toe intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0100935 ! Sclerosis of the middle phalanx of the 2nd toe intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100931 ! Sclerosis of the proximal phalanx of the 2nd toe intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010400 ! Patchy sclerosis of the proximal phalanx of the 2nd toe intersection_of: HP:0100931 ! Sclerosis of the proximal phalanx of the 2nd toe intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010418 ! Patchy sclerosis of the distal phalanx of the 2nd toe intersection_of: HP:0100939 ! Sclerosis of the distal phalanx of the 2nd toe intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0100939 ! Sclerosis of the distal phalanx of the 2nd toe intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100925 ! Sclerosis of bones of the feet intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:24222 ! Skeleton of foot [Term] id: HP:0100924 ! Sclerosis of the phalanges of the toes intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0010408 ! Osteolytic defects of the middle phalanx of the 2nd toe intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010406 ! Bullet-shaped middle phalanx of the 2nd toe intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010419 ! Symphalangism affecting the distal phalanx of the 2nd toe intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe intersection_of: towards FMA:32899 ! Phalanx of second toe [Term] id: HP:0010417 ! Osteolytic defects of the distal phalanx of the 2nd toe intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010415 ! Bullet-shaped distal phalanx of the 2nd toe intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010174 ! Broad phalanges of the toes intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0010176 ! Curved phalanges of the toes intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0010180 ! Triangular shaped phalanges of the toes intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0010065 ! Triangular shaped phalanges of the hallux intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0010083 ! Triangular shaped distal phalanx of the hallux intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010092 ! Triangular shaped proximal phalanx of the hallux intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010161 ! Abnormality of the phalanges of the toes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24493 ! Phalanx of toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010052 ! Abnormality of the proximal phalanx of the hallux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010053 ! Abnormality of the distal phalanx of the hallux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010057 ! Abnormality of the phalanges of the hallux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32884 ! Phalanx of big toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32629 ! Distal phalanx of third toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:32624 ! Middle phalanx of third toe [Term] id: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:32619 ! Proximal phalanx of third toe ! Not sure where is this term now.... ![Term] !id: HP: ! Complete duplication of the proximal phalanx of the 3rd toe !intersection_of: PATO:0001473 ! duplicated !intersection_of: towards FMA:32619 ! Proximal phalanx of third toe [Term] id: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32630 ! Distal phalanx of fourth toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:32625 ! Middle phalanx of fourth toe [Term] id: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:32620 ! Proximal phalanx of fourth toe [Term] id: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32631 ! Distal phalanx of little toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:230984 ! Middle phalanx of little toe [Term] id: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:32621 ! Proximal phalanx of little toe [Term] id: HP:0010414 ! Broad distal phalanx of the 2nd toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010416 ! Curved distal phalanx of the 2nd toe intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010420 ! Triangular shaped distal phalanx of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010432 ! Aplasia of the distal phalanx of the 2nd toe intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010102 ! Aplasia of the distal phalanx of the hallux intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe ! This should be a named term in HPO [Term] id: _:hypoplastic_distal_phalanx_of_the_big_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe ! This should be a named term in HPO [Term] id: _:small_distal_phalanx_of_the_big_toe is_anonymous: true intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32627 ! Distal phalanx of big toe [Term] id: HP:0010103 ! Hypoplastic/small distal phalanx of the hallux union_of: _:hypoplastic_distal_phalanx_of_the_big_toe union_of: _:small_distal_phalanx_of_the_big_toe [Term] id: HP:0010106 ! Aplasia of the proximal phalanx of the hallux intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe ! This should be a named term in HPO [Term] id: _:hypoplastic_proximal_phalanx_of_the_big_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe ! This should be a named term in HPO [Term] id: _:small_proximal_phalanx_of_the_big_toe is_anonymous: true intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:43252 ! Proximal phalanx of big toe [Term] id: HP:0010107 ! Hypoplastic/small proximal phalanx of the hallux union_of: _:hypoplastic_proximal_phalanx_of_the_big_toe union_of: _:small_proximal_phalanx_of_the_big_toe [Term] id: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux union_of: _:hypoplastic_distal_phalanx_of_the_big_toe union_of: HP:0010106 ! Aplasia of the proximal phalanx of the hallux [Term] id: HP:0010433 ! Hypoplastic/small distal phalanx of the 2nd toe union_of: _:hypoplastic_distal_phalanx_of_the_2nd_toe union_of: _:small_distal_phalanx_of_the_2nd_toe ! This should be a named term in HPO [Term] id: _:hypoplastic_distal_phalanx_of_the_2nd_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe ! This should be a named term in HPO [Term] id: _:small_distal_phalanx_of_the_2nd_toe is_anonymous: true intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010424 ! Complete duplication of the distal phalanx of the 2nd toe intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010425 ! Partial duplication of the distal phalanx of the 2nd toe intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0010421 ! Partial/complete duplication of the distal phalanx of the 2nd toe union_of: HP:0010424 ! Complete duplication of the distal phalanx of the 2nd toe union_of: HP:0010425 ! Partial duplication of the distal phalanx of the 2nd toe [Term] id: HP:0010396 ! Broad proximal phalanx of the 2nd toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010398 ! Curved proximal phalanx of the 2nd toe intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010402 ! Triangular shaped proximal phalanx of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010395 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd toe union_of: _:hypoplastic_proximal_phalanx_of_the_2nd_toe union_of: HP:0010432 ! Aplasia of the proximal phalanx of the 2nd toe [Term] id: HP:0010436 ! Aplasia of the proximal phalanx of the 2nd toe intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010437 ! Hypoplastic/small proximal phalanx of the 2nd toe union_of: _:hypoplastic_proximal_phalanx_of_the_2nd_toe union_of: _:small_proximal_phalanx_of_the_2nd_toe ! This should be a named term in HPO [Term] id: _:hypoplastic_proximal_phalanx_of_the_2nd_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe ! This should be a named term in HPO [Term] id: _:small_proximal_phalanx_of_the_2nd_toe is_anonymous: true intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010422 ! Complete duplication of the proximal phalanx of the 2nd toe intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010423 ! Partial duplication of the proximal phalanx of the 2nd toe intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0010403 ! Partial/complete duplication of the proximal phalanx of the 2nd toe union_of: HP:0010422 ! complete duplication of the proximal phalanx of the 2nd toe union_of: HP:0010423 ! Partial duplication of the proximal phalanx of the 2nd toe [Term] id: HP:0010405 ! Broad middle phalanx of the 2nd toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010407 ! Curved middle phalanx of the 2nd toe intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010411 ! Triangular shaped middle phalanx of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010434 ! Aplasia of the middle phalanx of the 2nd toe intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010435 ! Hypoplastic/small middle phalanx of the 2nd toe union_of: _:hypoplastic_middle_phalanx_of_the_2nd_toe union_of: _:small_middle_phalanx_of_the_2nd_toe ! This should be a named term in HPO [Term] id: _:hypoplastic_middle_phalanx_of_the_2nd_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe ! This should be a named term in HPO [Term] id: _:small_middle_phalanx_of_the_2nd_toe is_anonymous: true intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010426 ! Complete duplication of the middle phalanx of the 2nd toe intersection_of: PATO:0001473 ! duplicated intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010427 ! Partial duplication of the middle phalanx of the 2nd toe intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0010412 ! Partial/complete duplication of the middle phalanx of the 2nd toe union_of: HP:0010426 ! Complete duplication of the middle phalanx of the 2nd toe union_of: HP:0010427 ! Partial duplication of the middle phalanx of the 2nd toe ! This should be a named term in HPO [Term] id: _:hypoplastic_phalanges_of_the_toes is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24493 ! Phalanx of toe ! This should be a named term in HPO [Term] id: _:aplastic_phalanges_of_the_toes is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24493 ! Phalanx of toe [Term] id: HP:0005748 ! Absent distal phalanges of index fingers and second toes intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009565 ! Aplasia of the distal phalanx of the 2nd finger intersection_of: has_part HP:0001837 ! Broad toes [Term] id: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger union_of: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger union_of: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger union_of: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger [Term] id: HP:0009880 ! Broad distal phalanges of fingers and toes intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010186 ! Broad distal phalanges of the toes intersection_of: has_part HP:0009836 ! Broad distal phalanges of the hand [Term] id: HP:0010186 ! Broad distal phalanges of the toes intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010188 ! Curved distal phalanges of the toes intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010187 ! Bullet-shaped distal phalanges of the toes intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010192 ! Triangular shaped distal phalanges of the toes intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010182 ! Abnormality of the distal phalanges of the toes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010645 ! Aplasia of the distal phalanges of the toes intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0001857 ! Hypoplastic distal phalanges (feet) intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0009637 ! Aplasia of the proximal phalanx of the thumb intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb ! this is fine as partial/complete is more general [Term] id: HP:0010193 ! Partial/complete duplication of the distal phalanges of the toes intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010195 ! Broad middle phalanges of the toes intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010197 ! Curved middle phalanges of the toes intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010196 ! Bullet-shaped middle phalanges of the toes intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010201 ! Triangular shaped middle phalanges of the toes intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010183 ! Abnormality of the middle phalanges of the toes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe intersection_of: qualifier PATO:0000460 ! abnormal ! This should be a named term in HPO [Term] id: _:aplastic_middle_phalanx_of_toe is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe ! This should be a named term in HPO [Term] id: _:hypoplastic_middle_phalanx_of_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010202 ! Partial/complete duplication of the middle phalanges of the toes intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:75829 ! Middle phalanx of toe [Term] id: HP:0010204 ! Broad proximal phalanges of the toes intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0010206 ! Curved proximal phalanges of the toes intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0010205 ! Bullet-shaped proximal phalanges of the toes intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0010210 ! Triangular shaped proximal phalanges of the toes intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0010184 ! Abnormality of the proximal phalanges of the toes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe intersection_of: qualifier PATO:0000460 ! abnormal ! This should be a named term in HPO [Term] id: _:hypoplastic_proximal_phalanges_of_the_toes is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe ! This should be a named term in HPO [Term] id: _:aplastic_proximal_phalanges_of_the_toes is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0010211 ! Partial/complete duplication of the proximal phalanges of the toes intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0010348 ! Broad phalanges of the 2nd toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010350 ! Curved phalanges of the 2nd toe intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010349 ! Bullet-shaped phalanges of the 2nd toe intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010430 ! Aplasia of the phalanges of the 2nd toe intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010431 ! Hypoplastic/small phalanges of the 2nd toe intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010354 ! Triangular shaped phalanges of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010324 ! Abnormality of the phalanges of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32899 ! Phalanx of second toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0100926 ! Sclerosis of the phalanges of the 2nd toe intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010352 ! Patchy sclerosis of the phalanges of the 2nd toe intersection_of: HP:0100926 ! Sclerosis of the phalanges of the 2nd toe intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0010360 ! Broad phalanges of the 3rd toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32900 ! Phalanx of third toe [Term] id: HP:0010362 ! Curved phalanges of the 3rd toe intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32619 ! Proximal phalanx of third toe [Term] id: HP:0010361 ! Bullet-shaped phalanges of the 3rd toe intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32900 ! Phalanx of third toe [Term] id: HP:0010366 ! Triangular shaped phalanges of the 3rd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32619 ! Proximal phalanx of third toe [Term] id: HP:0010330 ! Abnormality of the phalanges of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32900 ! Phalanx of third toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100927 ! Sclerosis of the phalanges of the 3rd toe intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32900 ! Phalanx of third toe [Term] id: HP:0010364 ! Patchy sclerosis of the phalanges of the 3rd toe intersection_of: HP:0100927 ! Sclerosis of the phalanges of the 3rd toe intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe union_of: _:hypoplastic_third_toe_phalanx union_of: _:aplastic_third_toe_phalanx [Term] id: HP:0100366 ! Hypoplastic/small phalanges of the 3rd toe intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32900 ! Phalanx of third toe [Term] id: HP:0100362 ! Aplasia of the phalanges of the 3rd toe intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32900 ! Phalanx of third toe [Term] id: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32900 ! Phalanx of third toe [Term] id: HP:0010372 ! Broad phalanges of the 4th toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010374 ! Curved phalanges of the 4th toe intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010373 ! Bullet-shaped phalanges of the 4th toe intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010378 ! Triangular shaped phalanges of the 4th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010336 ! Abnormality of the phalanges of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe union_of: _:hypoplastic_fourth_toe_phalanx union_of: _:aplastic_fourth_toe_phalanx [Term] id: HP:0100367 ! Hypoplastic/small phalanges of the 4th toe intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0100363 ! Aplasia of the phalanges of the 4th toe intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010335 ! Abnormality of the epiphyses of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100072 ! Ivory epiphyses of the 4th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100074 ! Small epiphyses of the 4th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100067 ! Bracket epiphyses of the 4th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100069 ! Enlarged epiphyses of the 4th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100071 ! Irregular epiphyses of the 4th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100068 ! Cone-shaped epiphyses of the 4th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100075 ! Stippling of the epiphyses of the 4th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100076 ! Triangular epiphyses of the 4th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100073 ! Pseudoepiphyses of the 4th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:25052 ! Fourth toe [Term] id: HP:0100066 ! Absent epiphyses of the 4th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:25052 ! Fourth toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010027 ! Broad 1st metacarpal intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0010574 ! Abnormality of the epiphysis of the femoral head intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32851 ! Head of femur intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100928 ! Sclerosis of the phalanges of the 4th toe intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010376 ! Patchy sclerosis of the phalanges of the 4th toe intersection_of: HP:0100928 ! Sclerosis of the phalanges of the 4th toe intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010379 ! Partial/complete duplication of the phalanges of the 4th toe intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32901 ! Phalanx of fourth toe [Term] id: HP:0010384 ! Broad phalanges of the 5th toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0010386 ! Curved phalanges of the 5th toe intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0010385 ! Bullet-shaped phalanges of the 5th toe intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0010390 ! Triangular shaped phalanges of the 5th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0010342 ! Abnormality of the phalanges of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32902 ! Phalanx of little toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe union_of: _:hypoplastic_little_toe_phalanx union_of: _:aplastic_little_toe_phalanx [Term] id: HP:0100368 ! Hypoplastic/small phalanges of the 5th toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0100364 ! Aplasia of the phalanges of the 5th toe intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0100929 ! Sclerosis of the phalanges of the 5th toe intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0010388 ! Patchy sclerosis of the phalanges of the 5th toe intersection_of: HP:0100929 ! Sclerosis of the phalanges of the 5th toe intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0010391 ! Partial/complete duplication of the phalanges of the 5th toe intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32902 ! Phalanx of little toe [Term] id: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0008135 ! Hypoplastic feet intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:24222 ! Skeleton of foot [Term] id: HP:0001764 ! Small feet intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:24222 ! Skeleton of foot [Term] id: HP:0001991 ! Aplasia/Hypoplasia of the toes intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0001636 ! Tetralogy of Fallot intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0002623 ! Overriding aorta intersection_of: has_part HP:0001629 ! Ventricular septal defect intersection_of: has_part HP:0001642 ! Pulmonic stenosis intersection_of: has_part HP:0001667 ! Right ventricular hypertrophy [Term] id: HP:0005793 ! Absent/hypoplastic distal phalanges of hands and feet union_of: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand union_of: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes [Term] id: HP:0002623 ! Overriding aorta intersection_of: PATO:0001590 ! overlap with intersection_of: inheres_in FMA:3734 ! Aorta intersection_of: towards FMA:7135 ! Membranous part of interventricular septum [Term] id: HP:0001629 ! Ventricular septal defect intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:7133 ! Interventricular septum [Term] id: HP:0001631 ! Atrial septal defect intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:7108 ! Interatrial septum [Term] id: HP:0001643 ! Patent ductus arteriosus intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:79871 ! Ductus arteriosus ! Which one ?? ![Term] !id: HP:0001643 ! Patent ductus arteriosus !intersection_of: PATO:0000610 ! open !intersection_of: inheres_in FMA:79871 ! Ductus arteriosus [Term] id: HP:0001539 ! Omphalocele intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:86934 ! Anterior body wall [Term] id: HP:0001642 ! Pulmonic stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:7246 ! Pulmonary valve [Term] id: HP:0010444 ! Pulmonary insufficiency intersection_of: PATO:0001628 ! insufficient intersection_of: inheres_in FMA:7246 ! Pulmonary valve [Term] id: HP:0001667 ! Right ventricular hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:9533 ! Wall of right ventricle [Term] id: HP:0008362 ! Aplasia/Hypoplasia of the hallux intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:25047 ! Big toe ! Is this correct ? HP:0008083 ! 2nd-5th toe middle phalangeal hypoplasia [Term] id: HP:0004701 ! Hypoplasia of the toes intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0010109 ! Hypoplastic/small hallux intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:25047 ! Big toe [Term] id: HP:0001782 ! 'Tree-frog' feet intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009880 ! Broad distal phalanges of fingers and toes intersection_of: has_part HP:0009778 ! Hypoplastic/small thumb intersection_of: has_part HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0001849 ! Oligodactyly (feet) intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: inheres_in FMA:9664 ! Foot intersection_of: towards FMA:25046 ! Toe [Term] id: HP:0007500 ! Decreased number of sweat glands intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: inheres_in FMA:9664 ! Foot intersection_of: towards FMA:59152 ! Sweat gland ! This will be required should we decide to have a more general term for ologodactyly ![Term] !id: HP:0001180 ! Oligodactyly !intersection_of: PATO:0002001 ! has fewer parts of type !intersection_of: inheres_in _:set_of_digits !intersection_of: towards FMA:85518 ! Digit [Term] id: MP:0000561 ! adactyly intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:85518 ! Digit [Term] id: HP:0001180 ! Oligodactyly (hands) intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards FMA:9666 ! Finger [Term] id: HP:0009932 ! Single nostril intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: inheres_in FMA:46472 ! Nose intersection_of: towards FMA:59645 ! External naris [Term] id: HP:0100396 ! Hypoplastic/small proximal phalanx of the 4th toe intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:32620 ! Proximal phalanx of fourth toe [Term] id: HP:0003795 ! Short middle phalanges (feet) intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:75829 ! Middle phalanx of toe [Term] id: HP:0001781 ! Short, broad toes intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004701 ! Hypoplasia of the toes intersection_of: has_part HP:0001837 ! Broad toes [Term] id: HP:0001837 ! Broad toes intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0008093 ! Short fourth and fifth toes intersection_of: PATO:0000001 ! quality intersection_of: has_part _:short_fourth_toe intersection_of: has_part _:short_fifth_toe [Term] id: HP:0009823 ! Aplasia involving bones of the upper limbs intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in_part_of FMA:24139 ! Skeleton of upper limb [Term] id: HP:0009824 ! Hypoplasia involving bones of the upper limbs intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:24139 ! Skeleton of upper limb [Term] id: HP:0009142 ! Duplication of bones involving the upper extremities intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:24139 ! Skeleton of upper limb [Term] id: HP:0009817 ! Aplasia involving bones of the lower limbs intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in_part_of FMA:24140 ! Skeleton of lower limb [Term] id: HP:0009816 ! Hypoplasia involving bones of the lower limbs intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:24140 ! Skeleton of lower limb [Term] id: HP:0009825 ! Aplasia involving bones of the extremities intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in_part_of _:bones_of_the_extremities [Term] id: HP:0009826 ! Hypoplasia involving bones of the extremities intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of _:bones_of_the_extremities [Term] id: HP:0003026 ! Short long bones intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:7474 ! Long bone [Term] id: HP:0006382 ! Short, bent long bones intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003026 ! Short long bones intersection_of: has_part _:bent_long_bone [Term] id: HP:0001528 ! Hemihypertrophy intersection_of: PATO:0001623 ! atrophied intersection_of: qualifier PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0008717 ! Unilateral renal atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in _:left_or_right_kidney [Term] id: HP:0008718 ! Unilateral renal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in _:left_or_right_kidney [Term] id: HP:0008696 ! Bilateral renal hamartomas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in _:left_and_right_kidney intersection_of: towards MPATH:74 ! hamartoma [Term] id: HP:0006772 ! Multiple bilateral renal angiomyolipoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in _:left_and_right_kidney intersection_of: towards MPATH:416 ! angiomyolipomas [Term] id: HP:0010566 ! Hamartoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:74 ! hamartoma [Term] id: HP:0000703 ! Dentinogenesis imperfecta intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:55628 ! Dentine [Term] id: HP:0002552 ! Trichodysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:53667 ! Hair [Term] id: HP:0008688 ! Genitourinary dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:280610 ! genitourinary system [Term] id: HP:0006930 ! Frontoparietal cortical dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in _:cortex_of_frontal_lobe_and_cortex_of_parietal_lobe [Term] id: HP:0011086 ! Dentinogenesis imperfecta of primary and permanent teeth union_of: _:dysplastic_primary_and_permenant_dentition union_of: HP:0000703 ! Dentinogenesis imperfecta [Term] id: _:dysplastic_primary_and_permenant_dentition is_anonymous: true intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in _:primary_and_permenant_dentition [Term] id: HP:0006308 ! Atrophy of alveolar ridges intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in UBERON:0004103 ! alveolar ridge [Term] id: HP:0003100 ! Thin long bones intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:7474 ! Long bone [Term] id: HP:0001833 ! Large feet intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0001176 ! Large hands intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9712 ! Hand [Term] id: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009959 ! Partial/complete duplication of phalanges of the 3rd finger union_of: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger union_of: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger [Term] id: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:35483 ! Phalanx of middle finger [Term] id: HP:0010355 ! Partial/complete duplication of the phalanges of the 2nd toe union_of: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe union_of: HP:0010428 ! Partial duplication of the phalanges of the 2nd toe [Term] id: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:32899 ! Phalanx of second toe [Term] id: HP:0010428 ! Partial duplication of the phalanges of the 2nd toe intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:32899 ! Phalanx of second toe [Term] id: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:35480 ! Phalanx of index finger [Term] id: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009945 ! Partial/complete duplication of phalanges of the 2nd finger union_of: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger union_of: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger [Term] id: HP:0100919 ! Sclerosis of the phalanges of the 3rd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger intersection_of: HP:0100919 ! Sclerosis of the phalanges of the 3rd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0100918 ! Sclerosis of the phalanges of the 2nd finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger intersection_of: HP:0100918 ! Sclerosis of the phalanges of the 2nd finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0005091 ! Asymmetric limb shortening intersection_of: PATO:0000574 ! decreased length intersection_of: qualifier PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:7182 ! Limb !!! merged_into HP:0100556 ! Hemiatrophy [Term] id: HP:0005618 ! Asymmetric leg shortening intersection_of: PATO:0000574 ! decreased length intersection_of: qualifier PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:7184 ! Lower limb !!! merged_into HP:0200053 ! Monodactyly (feet) [Term] id: HP:0005753 ! Mild limb shortening intersection_of: PATO:0000574 ! decreased length intersection_of: qualifier PATO:0000394 ! mild intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0009821 ! Hypoplasia involving forearm bones intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:9663 ! Forearm [Term] id: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:46565 ! Skull [Term] id: HP:0006499 ! Abnormality of femoral epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32838 ! Epiphysis of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006477 ! Abnormality of the alveolar ridges intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of UBERON:0004103 ! alveolar ridge intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003370 ! Flat capital femoral epiphysis intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0005715 ! Flattened knee epiphyses intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:24974 ! Knee [Term] id: HP:0003895 ! Flattened humeral epiphyses intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:32825 ! Epiphysis of humerus [Term] id: HP:0008784 ! Flat, wide capital femoral epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003370 ! Flat capital femoral epiphysis intersection_of: has_part _:wide_femoral_epiphysis [Term] id: HP:0006503 ! Aplasia/Hypoplasia involving forearm bones union_of: HP:0009822 ! Aplasia involving forearm bones union_of: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0009822 ! Aplasia involving forearm bones intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in_part_of FMA:9663 ! Forearm [Term] id: HP:0006438 ! Enlargement of the distal femoral epiphysis intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:32844 ! Distal epiphysis of femur ! We might need this should we decide to add flat_distal_femoral_epiphysis as an HPO term (parent to 0006938) ![Term] !id: HP:0006398 ! Mildly flattened distal femoral epiphyses !intersection_of: _:flat_distal_femoral_epiphysis !intersection_of: qualifier PATO:0000394 ! mild ! ![Term] !id: _:flat_distal_femoral_epiphysis !is_anonymous: true !is_a: _:temp_term_holder !intersection_of: PATO:0000407 ! flat !intersection_of: inheres_in FMA:32844 ! Distal epiphysis of femur [Term] id: HP:0006398 ! Mildly flattened distal femoral epiphyses intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:32844 ! Distal epiphysis of femur intersection_of: qualifier PATO:0000394 ! mild [Term] id: HP:0006461 ! Proximal femoral epiphysiolysis intersection_of: PATO:0001505 ! separated from intersection_of: inheres_in FMA:9611 ! Femur intersection_of: towards FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0006407 ! Small, irregular distal femoral epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part _:irregular_distal_femoral_epiphysis intersection_of: has_part _:small_distal_femoral_epiphysis [Term] id: HP:0006508 ! Abnormality of tibial epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33112 ! Epiphysis of tibia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006456 ! Small, irregular proximal tibial epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part _:irregular_proximal_femoral_epiphysis intersection_of: has_part HP:0003090 ! Hypoplasia of the capital femoral epiphysis [Term] id: HP:0010583 ! Ivory epiphyses intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0006078 ! Ivory and cone-shaped epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010579 ! Cone-shaped epiphyses intersection_of: has_part HP:0010583 ! Ivory epiphyses [Term] id: HP:0010580 ! Enlarged epiphyses intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0003071 ! Flattened epiphyses intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0005082 ! flattened, enlarged epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003071 ! Flattened epiphyses intersection_of: has_part HP:0010580 ! Enlarged epiphyses [Term] id: HP:0005749 ! Irregular epiphyses with delayed growth intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010582 ! Irregular epiphyses intersection_of: has_part _:delayed_epiphysis_development [Term] id: _:delayed_epiphysis_development is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0021982 ! epiphysis development ! We need to check whether here irregural refers to the pattern of ossification (see HP:0005007) ! if so then we need to change the following as well [Term] id: HP:0010582 ! Irregular epiphyses intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0010118 ! Irregular epiphyses of the hallux intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0004982 ! Flat, irregular epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003071 ! Flattened epiphyses intersection_of: has_part HP:0010582 ! Irregular epiphyses [Term] id: HP:0006361 ! Irregular femoral epiphyses intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:32838 ! Epiphysis of femur [Term] id: HP:0003039 ! Small, irregular epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010585 ! Small epiphyses intersection_of: has_part HP:0010582 ! Irregular epiphyses [Term] id: HP:0005023 ! small, flattened irregular epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010582 ! Irregular epiphyses intersection_of: has_part HP:0005051 ! Small, flattened epiphyses ! these need to be merged if the answer to the above question is yes... [Term] id: HP:0005007 ! small, flat irregularly ossified epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part _:irregularly_ossified_epiphysis intersection_of: has_part HP:0005051 ! Small, flattened epiphyses [Term] id: HP:0002663 ! Late ossifying epiphyses intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24012 ! Epiphysis [Term] id: HP:0006454 ! Severely delayed patellae ossification intersection_of: PATO:0000502 ! delayed intersection_of: qualifier PATO:0000396 ! severe intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24491 ! Tarsal bone [Term] id: HP:0006257 ! Abnormality of carpal bone ossification intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:23889 ! Carpal bone [Term] id: HP:0006069 ! Severe carpal ossification delay intersection_of: PATO:0000502 ! delayed intersection_of: qualifier PATO:0000396 ! severe intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:23889 ! Carpal bone [Term] id: HP:0001216 ! Delayed maturation/delayed ossification of carpal bones intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:23889 ! Carpal bone [Term] id: HP:0005089 ! Abnormal metaphyseal trabeculation intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0060343 ! trabecula formation intersection_of: has_central_participant FMA:24012 ! Epiphysis [Term] id: HP:0006489 ! Abnormality of the femoral metaphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32875 ! Metaphysis of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006417 ! Broad femoral metaphyses intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32875 ! Metaphysis of femur [Term] id: HP:0008790 ! Widened proximal femoral metaphyses intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32878 ! Proximal metaphysis of femur [Term] id: HP:0006387 ! Wide distal metaphysis of femur intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32881 ! Distal metaphysis of femur [Term] id: HP:0006491 ! Abnormality of the tibial metaphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33135 ! Metaphysis of tibia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:24013 ! Diaphysis intersection_of: inheres_in_part_of FMA:24139 ! Skeleton of upper limb [Term] id: HP:0006413 ! Broad tibial metaphyses intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:33135 ! Metaphysis of tibia [Term] id: HP:0006431 ! Metaphyseal abnormalities of distal and proximal femurs intersection_of: PATO:0000001 ! quality intersection_of: has_part _:abnormal_distal_femoral_metaphysis intersection_of: has_part _:abnormal_proximal_femoral_metaphysis [Term] id: HP:0003860 ! Diaphyseal sclerosis of the upper limbs intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:24013 ! Diaphysis intersection_of: inheres_in_part_of FMA:24139 ! Skeleton of upper limb [Term] id: HP:0003051 ! Enlarged metaphyses intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:24014 ! Metaphysis [Term] id: HP:0003034 ! Diaphyseal sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:24013 ! Diaphysis [Term] id: HP:0001150 ! Choroidal sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:58298 ! Choroid [Term] id: HP:0003933 ! Sclerosis of humeral diaphysis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:13305 ! Diaphysis of humerus [Term] id: HP:0003881 ! Humeral sclerosis intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0005825 ! Mixed sclerosis of humeral metaphyses intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32830 ! Metaphysis of humerus [Term] id: HP:0003015 ! Flared metaphyses intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:24014 ! Metaphysis ! merged with above ![Term] !id: HP:0003015 ! metaphyseal flaring of long bones !intersection_of: HP:0003015 ! metaphyseal flaring !intersection_of: inheres_in FMA:7474 ! long bone [Term] id: HP:0000945 ! Flared irregular metaphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003025 ! Irregular metaphyses intersection_of: has_part HP:0003015 ! Flared metaphyses [Term] id: HP:0005015 ! Flared, widened metaphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003016 ! Metaphyseal widening intersection_of: has_part HP:0003015 ! Flared metaphyses [Term] id: HP:0004979 ! Sclerotic, widened metaphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003016 ! Metaphyseal widening intersection_of: has_part _:sclerotic_metaphysis [Term] id: HP:0003025 ! Irregular metaphyses intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:24014 ! Metaphysis [Term] id: HP:0003911 ! Flared humeral metaphyses intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:32830 ! Metaphysis of humerus [Term] id: HP:0004018 ! Flared radial metaphyses intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:33789 ! Metaphysis of radius [Term] id: HP:0100255 ! Metaphyseal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:24014 ! Metaphysis [Term] id: HP:0003016 ! Metaphyseal widening intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24014 ! Metaphysis ! merged ![Term] !id: HP:0003016 ! Widened long bone metaphyses !intersection_of: PATO:0000600 ! increased width !intersection_of: inheres_in FMA:24014 ! metaphysis [Term] id: HP:0006048 ! Distal widening of metacarpals intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:33798 ! Distal epiphysis of metacarpal bone [Term] id: HP:0001386 ! Joint swelling intersection_of: PATO:0001450 ! edematous intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0001387 ! Joint stiffness intersection_of: PATO:0001545 ! inflexible intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0005198 ! Stiff interphalangeal joints intersection_of: PATO:0001545 ! inflexible intersection_of: inheres_in FMA:42765 ! Interphalangeal joint [Term] id: HP:0003037 ! Enlarged joints intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0009264 ! Enlarged epiphysis of the proximal phalanx of the 4th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:23921 ! Proximal phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009349 ! Enlarged epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23920 ! Proximal phalanx of middle finger [Term] id: HP:0005261 ! Joint hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0002170 ! Intracranial hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in UBERON:0003128 ! cranium [Term] id: HP:0001933 ! Subcutaneous hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in FMA:9630 ! Superficial fascia [Term] id: HP:0004992 ! Dislocations of the wrists intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:35291 ! Wrist joint [Term] id: HP:0004976 ! Dislocations of the knees intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:35175 ! Knee joint ! This is wrong fix when term is added in PATO [Term] id: HP:0001371 ! Contractures intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:9721 ! Tendon [Term] id: HP:0006366 ! Adductor longus contractures intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in_part_of FMA:22441 ! Adductor longus [Term] id: HP:0005879 ! Congenital finger flexion contractures intersection_of: HP:0002803 ! Congenital contractures intersection_of: inheres_in_part_of FMA:9666 ! Finger [Term] id: HP:0005745 ! Congenital foot contractures intersection_of: HP:0002803 ! Congenital contractures intersection_of: inheres_in_part_of FMA:9664 ! Foot [Term] id: HP:0005750 ! Contractures of the joints of the lower limbs intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in_part_of FMA:7184 ! Lower limb [Term] id: HP:0006500 ! Abnormality involving the epiphyses of the lower limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:7184 ! Lower limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010345 ! Joint contractures of the 5th toe intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:25053 ! Little toe [Term] id: HP:0010212 ! Joint contractures of the hallux intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:25047 ! Big toe [Term] id: HP:0010333 ! Joint contractures of the 3rd toe intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:25051 ! Third toe [Term] id: HP:0010339 ! Joint contractures of the 4th toe intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:25052 ! Fourth toe [Term] id: HP:0010327 ! Joint contractures of the 2nd toe intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:25048 ! Second toe [Term] id: HP:0009183 ! Joint contractures of the 5th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:24949 ! Little finger [Term] id: HP:0009274 ! Joint contractures of the 4th finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:24948 ! Ring finger [Term] id: HP:0009319 ! Joint contractures of the 3rd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:24947 ! Middle finger [Term] id: HP:0009537 ! Joint contractures of the 2nd finger intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:24946 ! Index finger [Term] id: HP:0009600 ! Joint contractures of the thumb intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:7490 ! Joint intersection_of: inheres_in_part_of FMA:24938 ! Thumb [Term] id: HP:0009624 ! Contractures of the carpometacarpal joint of the thumb intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35421 ! Carpometacarpal joint of thumb [Term] id: HP:0009625 ! Contractures of the metacarpophalangeal joint of the thumb intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35249 ! Metacarpophalangeal joint of thumb [Term] id: HP:0009626 ! Contractures of the interphalangeal joint of the thumb intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35312 ! Interphalangeal joint of thumb [Term] id: HP:0010319 ! Abnormality of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009549 ! Curved phalanges of the 2nd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009546 ! Triangular shaped phalanges of the 2nd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009442 ! Curved phalanges of the 3rd finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009446 ! Triangular shaped phalanges of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009285 ! Curved phalanges of the 4th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0009407 ! Triangular shaped phalanges of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0004214 ! Curved phalanges of the 5th finger intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0009378 ! Triangular shaped phalanges of the 5th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100050 ! Ivory epiphyses of the 2nd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100052 ! Small epiphyses of the 2nd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100045 ! Bracket epiphyses of the 2nd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100047 ! Enlarged epiphyses of the 2nd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100049 ! Irregular epiphyses of the 2nd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100053 ! Stippling of the epiphyses of the 2nd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100054 ! Triangular epiphyses of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:25048 ! Second toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100051 ! Pseudoepiphyses of the 2nd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:25048 ! Second toe [Term] id: HP:0100044 ! Absent epiphyses of the 2nd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:25048 ! Second toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0003121 ! Limb contractures intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in_part_of FMA:7182 ! Limb [Term] id: HP:0006505 ! Abnormality involving the epiphyses of the limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:7182 ! Limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009473 ! Joint contractures involving the joints of the hand intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in_part_of UBERON:0001489 ! manus joint [Term] id: HP:0008366 ! Contractures involving the joints of the feet intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in_part_of UBERON:0001487 ! pes joint [Term] id: HP:0008843 ! Hip osteoarthritis intersection_of: HP:0002758 ! Osteoarthritis intersection_of: inheres_in FMA:24964 ! Hip [Term] id: HP:0005086 ! Knee osteoarthritis intersection_of: HP:0002758 ! Osteoarthritis intersection_of: inheres_in FMA:24974 ! Knee [Term] id: HP:0003088 ! Premature osteoarthritis intersection_of: HP:0002758 ! Osteoarthritis intersection_of: qualifier PATO:0000694 ! premature [Term] id: HP:0009750 ! Short, flared ribs intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000773 ! Short ribs intersection_of: has_part _:flared_rib ! end of Muscle abnormalities [Term] id: HP:0000164 ! Abnormality of the teeth intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:75150 ! Dentition intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000221 ! Furrowed tongue intersection_of: PATO:0001948 ! furrowed intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0000818 ! Abnormality of the endocrine system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9668 ! Endocrine system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100568 ! Endocrine neoplasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9668 ! Endocrine system intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0001043 ! Prominent scalp veins intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in_part_of FMA:46494 ! Scalp intersection_of: inheres_in FMA:50723 ! Vein [Term] id: HP:0006157 ! Prominent palmar flexion creases intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:281371 ! palmar crease [Term] id: HP:0000954 ! Transverse palmar creases intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards FMA:281371 ! palmar crease [Term] id: HP:0001421 ! Abnormality of the musculature of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:42368 ! Musculature of hand intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000301 ! Abnormality of facial musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:71288 ! Musculature of face intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001435 ! Abnormality of the shoulder girdle musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23217 ! Pectoral girdle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001469 ! Abnormality of the musculature of the pelvis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:19086 ! Muscle of pelvis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:19086 ! Muscle of pelvis [Term] id: HP:0001817 ! Absent fingernails intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:54327 ! Nail of finger [Term] id: HP:0001804 ! Hypoplastic fingernails intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:54327 ! Nail of finger [Term] id: HP:0008384 ! Aplastic/hypoplastic fingernails union_of: HP:0001804 ! hypoplastic fingernails union_of: HP:0001817 ! Absent fingernails [Term] id: HP:0002209 ! Sparse scalp hair intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in FMA:54241 ! Hair of head [Term] id: HP:0002231 ! Sparse body hair intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in_part_of FMA:54250 ! Hair of trunk [Term] id: HP:0002692 ! Hypoplastic facial bones intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:24728 ! Face intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0000280 ! Coarse facial features intersection_of: PATO:0000700 ! rough intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0003961 ! Fractured forearm bones intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:9663 ! Forearm intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0003959 ! Deformed forearm bones intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in_part_of FMA:9663 ! Forearm intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0002974 ! Radioulnar synostosis intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in_part_of FMA:9663 ! Forearm intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0003971 ! Wide/broad forearm bones intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in_part_of FMA:9663 ! Forearm intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand intersection_of: PATO:0001019 ! mass density intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in_part_of FMA:24159 ! Skeleton of hand [Term] id: HP:0004277 ! Fractured hand bones intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:24159 ! Skeleton of hand [Term] id: HP:0004054 ! Sclerosis of hand bones intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in_part_of FMA:24159 ! Skeleton of hand [Term] id: HP:0009699 ! Osteolytic defects of the hand bones intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in_part_of FMA:24159 ! Skeleton of hand [Term] id: HP:0004284 ! Notched hand bones intersection_of: PATO:0001495 ! notched intersection_of: inheres_in_part_of FMA:24159 ! Skeleton of hand [Term] id: HP:0004286 ! Patchy sclerosis of hand bones intersection_of: HP:0004054 ! Sclerosis of hand bones intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0004383 ! Hypoplastic left heart intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7166 ! Left side of heart [Term] id: HP:0005357 ! Defective B cell differentiation intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in GO:0030183 ! B cell differentiation [Term] id: HP:0005384 ! Defective B cell activation intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in GO:0042113 ! B cell activation [Term] id: HP:0010306 ! Short thorax intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0010309 ! Bifid sternum intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:7485 ! Sternum [Term] id: HP:0001853 ! Bifid terminal phalanges (feet) intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:75830 ! Distal phalanx of toe [Term] id: HP:0010311 ! Aplasia/Hypoplasia of the breasts union_of: HP:0003187 ! Breast hypoplasia union_of: HP:0003187 ! Breast hypoplasia [Term] id: HP:0003187 ! Breast hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9601 ! Breast [Term] id: HP:0100013 ! Neoplasm of the breast intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9601 ! Breast intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0100574 ! Biliary tract neoplasm intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:79646 ! Biliary system intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0100006 ! Neoplasm of the central nervous system intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:55675 ! Neuraxis intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0003002 ! Breast carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9601 ! Breast intersection_of: towards MPATH:549 ! carcinoma [Term] id: HP:0010312 ! Asymmetry of the breasts intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:9601 ! Breast [Term] id: HP:0010313 ! Breast hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:9601 ! Breast [Term] id: HP:0010314 ! Premature thelarche intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0042695 ! thelarche [Term] id: HP:0001622 ! Premature birth intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0007567 ! parturition [Term] id: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:13295 ! Diaphragm ! This should be a named term in HPO [Term] id: _:hypoplastic_third_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:25051 ! Third toe ! This should be a named term in HPO [Term] id: _:aplastic_third_toe is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:25051 ! Third toe [Term] id: HP:0100041 ! Broad 3rd toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:25051 ! Third toe [Term] id: HP:0010320 ! Abnormality of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100061 ! Ivory epiphyses of the 3rd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100063 ! Small epiphyses of the 3rd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100056 ! Bracket epiphyses of the 3rd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100058 ! Enlarged epiphyses of the 3rd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100060 ! Irregular epiphyses of the 3rd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100064 ! Stippling of the epiphyses of the 3rd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100065 ! Triangular epiphyses of the 3rd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:25051 ! Third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100062 ! Pseudoepiphyses of the 3rd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:25051 ! Third toe [Term] id: HP:0100055 ! Absent epiphyses of the 3rd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:25051 ! Third toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0010443 ! Bifid femur intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:9611 ! Femur ! This should be a named term in HPO [Term] id: _:hypoplastic_little_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:25053 ! Little toe ! This should be a named term in HPO [Term] id: _:aplastic_little_toe is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:25053 ! Little toe [Term] id: HP:0001830 ! Postaxial polydactyly (feet) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9664 ! Foot intersection_of: towards FMA:25053 ! Little toe [Term] id: HP:0000002 ! Abnormality of body height intersection_of: PATO:0000119 ! height intersection_of: inheres_in FMA:256135 ! Body intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011029 ! Internal hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0001604 ! Vocal cord paresis intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in_part_of FMA:55457 ! Vocal fold [Term] id: HP:0008358 ! Hyperprolinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26271 ! proline [Term] id: HP:0007834 ! Progressive cataract intersection_of: HP:0000518 ! Cataract intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0000008 ! Abnormality of female internal genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:45654 ! Female internal genitalia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000013 ! Hypoplasia of the uterus intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:17558 ! Uterus [Term] id: HP:0002927 ! Histidinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:27570 ! histidine [Term] id: HP:0000813 ! Bicornuate uterus intersection_of: PATO:0002161 ! bicornuate intersection_of: inheres_in FMA:17558 ! Uterus [Term] id: HP:0000014 ! Abnormality of the bladder intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:15900 ! Urinary bladder intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000022 ! Abnormality of male internal genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:45655 ! Male internal genitalia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000026 ! Male hypogonadism intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0000135 ! Hypogonadism intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:18250 ! Gonad [Term] id: HP:0000030 ! Testicular gonadoblastoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7210 ! Testis intersection_of: towards MPATH:315 ! gonadoblastoma [Term] id: HP:0002161 ! Hyperlysinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:25094 ! lysine [Term] id: HP:0003137 ! Prolinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:26271 ! proline [Term] id: HP:0004375 ! Neoplasm of the nervous system intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7157 ! Nervous system intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0007379 ! Genitourinary tract neoplasm intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:280610 ! genitourinary system intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0000032 ! Abnormality of male external genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:45642 ! Male external genitalia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000033 ! Ambiguous genitalia, male intersection_of: HP:0000062 ! Ambiguous genitalia intersection_of: inheres_in FMA:67811 ! Male human body [Term] id: HP:0000062 ! Ambiguous genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:45643 ! External genitalia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000035 ! Abnormality of the testis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7210 ! Testis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000036 ! Abnormality of the penis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9707 ! Penis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010121 ! Small epiphyses of the hallux intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0000075 ! Renal duplication intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:7203 ! Kidney [Term] id: HP:0004275 ! Duplication of hand bones intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:24159 ! Skeleton of hand [Term] id: HP:0000040 ! Enlarged penis intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9707 ! Penis [Term] id: HP:0009158 ! Enlarged epiphysis of the proximal phalanx of the 5th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:23922 ! Proximal phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0001433 ! Hepatosplenomegaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in _:liver_and_spleen [Term] id: HP:0000042 ! Absent external genitalia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:45643 ! External genitalia [Term] id: HP:0010149 ! Absent epiphysis of the 1st metatarsal intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:24502 ! First metatarsal bone intersection_of: towards FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0000045 ! Abnormality of the scrotum intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:18252 ! Scrotum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000048 ! Bifid scrotum intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:18252 ! Scrotum [Term] id: HP:0000052 ! Urethral atresia, male intersection_of: HP:0000068 ! Urethral atresia intersection_of: inheres_in FMA:67811 ! Male human body [Term] id: HP:0000055 ! Abnormality of female external genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:45649 ! Female external genitalia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010460 ! Abnormality of the female genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:45663 ! Female genital system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004305 ! Involuntary muscle contractions intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0003010 ! voluntary skeletal muscle contraction intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001883 ! Talipes intersection_of: PATO:0001883 ! clavate intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0008069 ! Neoplasm of the skin intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7163 ! Skin intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0006753 ! Neoplasm of the stomach intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7148 ! Stomach intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0000973 ! Cutis laxa intersection_of: PATO:0001802 ! loose intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0001028 ! Hemangiomas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:240 ! hemangioma [Term] id: HP:0003241 ! Genital hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in_part_of FMA:7160 ! Genital system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000056 ! Abnormality of the clitoris intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9909 ! Clitoris intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000060 ! Clitoral hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9909 ! Clitoris [Term] id: HP:0000149 ! Ovarian gonadoblastoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7209 ! Ovary intersection_of: towards MPATH:315 ! gonadoblastoma [Term] id: HP:0000061 ! Ambiguous genitalia, female intersection_of: HP:0000062 ! Ambiguous genitalia intersection_of: inheres_in FMA:67812 ! Female human body [Term] id: HP:0000067 ! Urethral atresia, female intersection_of: HP:0000068 ! Urethral atresia intersection_of: inheres_in FMA:67812 ! Female human body [Term] id: HP:0000068 ! Urethral atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:19667 ! Urethra [Term] id: HP:0000069 ! Abnormality of the ureter intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9704 ! Ureter intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000077 ! Abnormality of the kidney intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7203 ! Kidney intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000086 ! Ectopic kidney intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000091 ! Abnormality of the renal tubule intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:15627 ! Renal tubule intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000098 ! Tall stature intersection_of: PATO:0000570 ! increased height intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0000105 ! Enlarged kidneys intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000110 ! Renal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000130 ! Abnormality of the uterus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:17558 ! Uterus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000134 ! Female hypogonadism intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:7209 ! Ovary [Term] id: HP:0000136 ! Bifid uterus intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:17558 ! Uterus [Term] id: HP:0000142 ! Abnormality of the vagina intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:19949 ! Vagina intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000148 ! Vaginal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:19949 ! Vagina [Term] id: HP:0000162 ! Glossoptosis intersection_of: PATO:0001922 ! mislocalised posteriorly intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0001153 ! Septate vagina intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:19949 ! Vagina [Term] id: HP:0000151 ! Aplasia of the uterus intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:17558 ! Uterus [Term] id: HP:0000153 ! Abnormality of the mouth intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:49184 ! Mouth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000154 ! Wide mouth intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:49184 ! Mouth [Term] id: HP:0000157 ! Abnormality of the tongue intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54640 ! Tongue intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000159 ! Lip abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:49184 ! Mouth intersection_of: inheres_in FMA:59816 ! Lip intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000161 ! Median cleft lip intersection_of: PATO:0002169 ! split medially intersection_of: inheres_in FMA:59816 ! Lip [Term] id: HP:0008501 ! Median cleft lip/palate union_of: HP:0000175 ! cleft palate union_of: HP:0000161 ! median cleft lip [Term] id: HP:0000163 ! Abnormality of the oral cavity intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:20292 ! Oral cavity intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100649 ! Neoplasia of the oral cavity intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:49184 ! Mouth intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0000172 ! Abnormality of the uvula intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55022 ! Uvula intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000174 ! Abnormality of palate intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54549 ! Palate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000175 ! Cleft palate intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:54549 ! Palate [Term] id: HP:0000176 ! Submucous cleft palate intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000185 ! Cleft soft palate intersection_of: has_part _:normal_buccal_mucosa [Term] id: _:normal_buccal_mucosa is_anonymous: true intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59785 ! Buccal mucosa intersection_of: qualifier PATO:0000461 ! normal [Term] id: HP:0000177 ! Abnormality of upper lip intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59817 ! Upper lip intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000178 ! Abnormality of lower lip intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59818 ! Lower lip intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000179 ! Thick lower lip vermilion intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:59818 ! Lower lip [Term] id: HP:0000185 ! Cleft soft palate intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:55021 ! Soft palate [Term] id: HP:0000188 ! Short upper lip intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:59817 ! Upper lip [Term] id: HP:0001443 ! Abnormality of the gluteal musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:64922 ! Gluteal muscle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003174 ! Abnormality of the ischial bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:16592 ! Ischium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003175 ! Hypoplastic ischia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:16592 ! Ischium [Term] id: HP:0100865 ! Broad ischia intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:16592 ! Ischium [Term] id: HP:0000189 ! Narrow palate intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:54549 ! Palate [Term] id: HP:0003177 ! Square iliac bones intersection_of: PATO:0000413 ! square intersection_of: inheres_in FMA:16589 ! Ilium [Term] id: HP:0100866 ! Short iliac bones intersection_of: PATO:0000569 ! decreased height intersection_of: inheres_in FMA:16589 ! Ilium ! Here we need to check ! Hypoplastic ilia is exact synonym to hypoplastic iliac bone [Term] id: HP:0003178 ! Short and small iliac bones intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000946 ! Hypoplastic ilia intersection_of: has_part _:short_iliac_bone [Term] id: HP:0008824 ! Hypoplastic iliac body intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:42825 ! Body of ilium [Term] id: HP:0005740 ! Small iliac bodies intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:42825 ! Body of ilium [Term] id: HP:0002868 ! Narrow iliac wings intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:42826 ! Ala of ilium [Term] id: HP:0002866 ! Hypoplastic iliac wings intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:42826 ! Ala of ilium [Term] id: HP:0002869 ! Flared iliac wings intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:42826 ! Ala of ilium [Term] id: HP:0003277 ! Constricted iliac wings intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:42826 ! Ala of ilium [Term] id: HP:0008794 ! Dysplastic iliac wings intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:42826 ! Ala of ilium ! This should be a named term in HPO [Term] id: _:large_iliac_wing is_anonymous: true intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:42826 ! Ala of ilium ! This should be a named term in HPO [Term] id: _:high_iliac_wing is_anonymous: true intersection_of: PATO:0000570 ! increased height intersection_of: inheres_in FMA:42826 ! Ala of ilium [Term] id: HP:0008818 ! Large, flared iliac wings intersection_of: PATO:0000001 ! quality intersection_of: has_part _:large_iliac_wing intersection_of: has_part HP:0002869 ! Flared iliac wings [Term] id: HP:0008808 ! High, narrow iliac wings intersection_of: PATO:0000001 ! quality intersection_of: has_part _:high_iliac_wing intersection_of: has_part HP:0002868 ! Narrow iliac wings [Term] id: HP:0003375 ! Narrow greater sacrosciatic notches intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:16902 ! Greater sciatic notch [Term] id: HP:0008798 ! Widened, small sacrosciatic notches intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010457 ! Widening of the sacrosciatic notch intersection_of: has_part HP:0003375 ! Narrow greater sacrosciatic notches [Term] id: HP:0000193 ! Bifid uvula intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:55022 ! Uvula [Term] id: HP:0000194 ! Open mouth intersection_of: PATO:0000610 ! open intersection_of: inheres_in FMA:49184 ! Mouth [Term] id: HP:0000197 ! Abnormality of parotid gland intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59790 ! Parotid gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010456 ! Abnormality of the greater sacrosciatic notch intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:16902 ! Greater sciatic notch intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000204 ! Cleft lip intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:59816 ! Lip [Term] id: HP:0000207 ! Triangular mouth intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:49184 ! Mouth [Term] id: HP:0010123 ! Triangular epiphyses of the hallux intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0000213 ! Thin lips intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:59816 ! Lip [Term] id: HP:0000215 ! Thick upper lip vermilion intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:59817 ! Upper lip [Term] id: HP:0000219 ! Thin upper lip vermilion intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:59817 ! Upper lip [Term] id: HP:0000232 ! Everted lower lip vermilion intersection_of: PATO:0001597 ! everted intersection_of: inheres_in FMA:59818 ! Lower lip [Term] id: HP:0000234 ! Abnormality of the head intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7154 ! Head intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000271 ! Abnormality of the face intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24728 ! Face intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000274 ! Small face intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000275 ! Narrow face intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000276 ! Long face intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000283 ! Broad face intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000288 ! Abnormality of the philtrum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59819 ! Philtrum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000289 ! Wide philtrum intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:59819 ! Philtrum [Term] id: HP:0010457 ! Widening of the sacrosciatic notch intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:16902 ! Greater sciatic notch [Term] id: HP:0000290 ! Abnormality of the forehead intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:63864 ! Forehead intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000300 ! Oval face intersection_of: PATO:0001891 ! ovate intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000306 ! Abnormality of the chin intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:46495 ! Chin intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000307 ! Pointed chin intersection_of: PATO:0000944 ! sharpness intersection_of: inheres_in FMA:46495 ! Chin [Term] id: HP:0000311 ! Round face intersection_of: PATO:0000411 ! round intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000315 ! Abnormality of the orbital region intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54448 ! Eye intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000568 ! Microphthalmos intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0000520 ! Proptosis intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0007633 ! Bilateral microphthalmos intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0000319 ! Flat philtrum intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:59819 ! Philtrum [Term] id: HP:0000321 ! Square face intersection_of: PATO:0000413 ! square intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000322 ! Short philtrum intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:59819 ! Philtrum [Term] id: HP:0000303 ! Mandibular prognathia intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:52748 ! Mandible [Term] id: HP:0000331 ! Small chin intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:46495 ! Chin [Term] id: HP:0000343 ! Long philtrum intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:59819 ! Philtrum [Term] id: HP:0000350 ! Small forehead intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0000358 ! Posteriorly rotated ears intersection_of: PATO:0001600 ! posteriorly rotated intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0000369 ! Low-set ears intersection_of: PATO:0001476 ! decreased position intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0000359 ! Abnormality of the inner ear intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:60909 ! Internal ear intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000364 ! Hearing abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0007605 ! sensory perception of sound intersection_of: qualifier PATO:0000460 ! abnormal ! not sure about any of these ![Term] !id: HP:0000405 ! Hearing loss, conductive !intersection_of: PATO:0001997 ! present in fewer numbers in organism !intersection_of: inheres_in GO:0055127 ! vibrational conductance of sound to the inner ear ! ![Term] !id: HP:0008598 ! Conductive hearing loss, mild !intersection_of: HP:0000405 ! Hearing loss, conductive !intersection_of: qualifier PATO:0000394 ! mild ! ![Term] !id: HP:0008581 ! Early conductive hearing loss !intersection_of: HP:0000405 ! Hearing loss, conductive !intersection_of: qualifier PATO:0000694 ! premature ! ![Term] !id: HP:0008536 ! Bilateral conductive hearing loss !intersection_of: HP:0000405 ! Hearing loss, conductive !intersection_of: inheres_in _:left_and_right_ear ! ![Term] !id: _:left_and_right_ear !intersection_of: FMA:24218 ! Subdivision of head !intersection_of: has_part FMA:53641 ! Right ear !intersection_of: has_part FMA:53642 ! Left ear ! [Term] id: HP:0000367 ! Conductive deafness intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0055127 ! vibrational conductance of sound to the inner ear ! ![Term] !id: HP:0008513 ! Bilateral conductive deafness !intersection_of: HP:0000367 ! Conductive deafness intersection_of: inheres_in _:left_and_right_ear !!! merged_into HP:0000405 ! Conductive hearing impairment ! $$$$$ DO Neurosensory hearing loss [Term] id: HP:0000366 ! Abnormality of the nose intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:46472 ! Nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000421 ! Epistaxis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0000370 ! Abnormality of the middle ear intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:56513 ! Middle ear intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000372 ! Abnormality of the auditory canal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61734 ! External acoustic tube intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000375 ! Abnormality of cochlea intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:60201 ! Cochlea intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000395 ! Prominent antihelix intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:60995 ! Antihelix [Term] id: HP:0000400 ! Large ears intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0000411 ! Protruding ears intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0000412 ! Prominent ears intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0000413 ! External auditory canal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:61734 ! External acoustic tube [Term] id: HP:0000415 ! Abnormality of the choanae intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of UBERON:0010425 ! internal naris intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000419 ! Abnormality of the nasal septum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54375 ! Nasal septum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000420 ! Short nasal septum intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:54375 ! Nasal septum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000422 ! Abnormality of the nasal bridge intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of UBERON:0008340 ! nasal bridge intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000431 ! Wide nasal bridge intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in UBERON:0008340 ! nasal bridge intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000433 ! Abnormality of the nasal mucosa intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59684 ! Mucosa of nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000436 ! Abnormality of the nasal tip intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59518 ! Tip of nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000437 ! Flat nasal tip intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:59518 ! Tip of nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005280 ! Depressed nasal bridge intersection_of: PATO:0000407 ! flat intersection_of: inheres_in UBERON:0008340 ! nasal bridge intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000426 ! Prominent nasal bridge intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in UBERON:0008340 ! nasal bridge intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003194 ! Short nasal bridge intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:52745 ! Nasal bone [Term] id: HP:0000446 ! Narrow nasal bridge intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:52745 ! Nasal bone ! request nasal bridge [Term] id: HP:0005281 ! Hypoplastic nasal bridge intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in UBERON:0008340 ! nasal bridge [Term] id: HP:0005285 ! Absent nasal bridge intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards UBERON:0008340 ! nasal bridge !! FIXME: congenital ! need an equivelant relation for inheres_in_part_of [Term] id: HP:0009013 ! Congenital absence of gluteal muscles intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:64922 ! Gluteal muscle [Term] id: HP:0003196 ! Nasal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0000445 ! Broad nose intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:46472 ! Nose ! need to request nasal bridge from FMA ![Term] !id: HP:0000431 ! Broad nasal bridge !intersection_of: PATO:0000600 ! increased width !intersection_of: inheres_in FMA:52745 ! Nasal bone [Term] id: HP:0000448 ! Prominent nose intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0000451 ! Triangular nasal tip intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:59518 ! Tip of nose [Term] id: HP:0000452 ! Choanal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in UBERON:0010425 ! internal naris [Term] id: HP:0000453 ! Choanal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in UBERON:0010425 ! internal naris [Term] id: HP:0000455 ! Broad nasal tip intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:59518 ! Tip of nose [Term] id: HP:0000456 ! Bifid nasal tip intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:59518 ! Tip of nose [Term] id: HP:0000457 ! Flat nose intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0000460 ! Narrow nose intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0000463 ! Nares, anteverted intersection_of: PATO:0001474 ! anteverted intersection_of: inheres_in FMA:59645 ! External naris [Term] id: HP:0000464 ! Abnormality of the neck intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7155 ! Neck intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000472 ! Long neck intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:7155 ! Neck [Term] id: HP:0000475 ! Broad neck intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:7155 ! Neck [Term] id: HP:0000478 ! Abnormality of the eye intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:12513 ! Eyeball intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000479 ! Abnormality of the retina intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58301 ! Retina intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000480 ! Retinal coloboma intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0000481 ! Abnormality of the cornea intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58238 ! Cornea intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000492 ! Abnormality of the eyelid intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54437 ! Eyelid intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000508 ! Ptosis intersection_of: PATO:0002165 ! drooping intersection_of: inheres_in FMA:54437 ! Eyelid [Term] id: HP:0000499 ! Abnormality of the eyelashes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:53669 ! Eyelash intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000502 ! Abnormality of the conjunctiva intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59011 ! Conjunctiva intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000504 ! Abnormality of vision intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0007601 ! visual perception intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000505 ! Impaired vision intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0007601 ! visual perception [Term] id: HP:0000581 ! Blepharophimosis intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:59110 ! Palpebral fissure [Term] id: HP:0000517 ! Abnormality of the lens intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58241 ! Lens intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005494 ! Premature posterior fontanelle closure intersection_of: PATO:0002166 ! premature closure intersection_of: inheres_in FMA:75440 ! Posterior fontanelle [Term] id: HP:0005563 ! Decreased numbers of glomeruli intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards FMA:15624 ! Glomerulus [Term] id: HP:0001913 ! Granulocytopeniadea intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards CL:0000094 ! granulocyte intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0005344 ! Abnormality of the carotid arteries intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:3939 ! Common carotid artery intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004023 ! Sloping radial metaphysis intersection_of: PATO:0001481 ! sloped intersection_of: inheres_in FMA:33789 ! Metaphysis of radius [Term] id: HP:0008117 ! Shortening of the talar neck intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:33636 ! Neck of talus [Term] id: HP:0001132 ! Lens subluxation intersection_of: PATO:0002157 ! partially dislocated intersection_of: inheres_in FMA:58241 ! Lens [Term] id: HP:0000518 ! Cataract intersection_of: PATO:0000963 ! opaque intersection_of: inheres_in FMA:58241 ! Lens ! merge or fix with congenital - we do not have a way to do this currently ! ![Term] !id: HP:0000519 ! Congenital cataract !intersection_of: PATO:0000963 ! opaque !intersection_of: inheres_in FMA:58241 ! Lens [Term] id: HP:0000525 ! Abnormality of the iris intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58235 ! Iris intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000527 ! Long eyelashes intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:53669 ! Eyelash [Term] id: HP:0000534 ! Abnormality of the eyebrow intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54237 ! Eyebrow intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000535 ! Sparse eyebrows intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in FMA:54237 ! Eyebrow [Term] id: HP:0000541 ! Retinal detachment intersection_of: PATO:0001453 ! detached from intersection_of: towards FMA:58301 ! Retina intersection_of: inheres_in FMA:12513 ! Eyeball ! request GO for color vision ![Term] !id: HP:0000551 ! Abnormal color vision [Term] id: HP:0000553 ! Abnormality of the uvea intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:58103 ! Vascular layer of eyeball intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000559 ! Corneal scarring intersection_of: PATO:0001850 ! scarred intersection_of: inheres_in FMA:58238 ! Cornea [Term] id: HP:0000561 ! Absent eyelashes intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:53669 ! Eyelash [Term] id: HP:0000564 ! Lacrimal duct atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:61063 ! Lacrimal duct [Term] id: HP:0000574 ! Thick eyebrows intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:54237 ! Eyebrow [Term] id: HP:0000586 ! Shallow orbits intersection_of: PATO:0001472 ! decreased depth intersection_of: inheres_in FMA:53074 ! Orbit [Term] id: HP:0000587 ! Abnormality of the optic nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:50863 ! Optic nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000588 ! Optic nerve coloboma intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:50863 ! Optic nerve [Term] id: HP:0000591 ! Abnormality of the sclera intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:58269 ! Sclera intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000598 ! Abnormality of the ear intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:52780 ! Ear intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000600 ! Abnormality of the pharynx intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:46688 ! Pharynx intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000610 ! Abnormality of the choroid intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:58298 ! Choroid intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000611 ! Choroid coloboma intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:58298 ! Choroid [Term] id: HP:0000612 ! Iris coloboma intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:58235 ! Iris [Term] id: HP:0000614 ! Abnormality of the lacrimal duct intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61063 ! Lacrimal duct intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000615 ! Abnormality of the pupil intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58252 ! Pupil intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000625 ! Eyelid, cleft intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:54437 ! Eyelid [Term] id: HP:0000636 ! Upper eyelid coloboma intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:54439 ! Upper eyelid [Term] id: HP:0000637 ! Long palpebral fissures intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:59110 ! Palpebral fissure [Term] id: HP:0000652 ! Lower eyelid coloboma intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:54442 ! Lower eyelid [Term] id: HP:0000653 ! Sparse eyelashes intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in FMA:53669 ! Eyelash [Term] id: HP:0000658 ! Eyelid apraxia intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in FMA:54437 ! Eyelid [Term] id: HP:0008301 ! Dermatan sulfate excretion in urine intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:18376 ! dermatan sulfate [Term] id: HP:0002159 ! Heparan sulfate excretion in urine intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:28815 ! Heparan sulfate [Term] id: HP:0003541 ! Dermatan and heparan sulfate excretion in urine intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0008301 ! Dermatan sulfate excretion in urine intersection_of: has_part HP:0002159 ! Heparan sulfate excretion in urine [Term] id: HP:0000546 ! Retinal degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0000510 ! Retinitis pigmentosa intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000546 ! Retinal degeneration intersection_of: has_part HP:0001105 ! Retinal atrophy [Term] id: HP:0011069 ! Increased number of teeth intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:75150 ! Dentition ! we need to request from GO tooth erruption ![Term] !id: HP:0000684 ! delayed dentition !intersection_of: PATO:0000502 ! delayed [Term] id: HP:0000680 ! Delayed eruption of primary teeth intersection_of: HP:0000684 ! Delayed eruption intersection_of: inheres_in FMA:75151 ! Primary dentition [Term] id: HP:0000685 ! Hypoplasia of teeth intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75150 ! Dentition [Term] id: HP:0000759 ! Abnormality of the peripheral nervous system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9903 ! Peripheral nervous system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100007 ! Neoplasia of the peripheral nervous system intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9903 ! Peripheral nervous system intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0004353 ! Abnormality of pyrimidine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006206 ! pyrimidine base metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003654 ! Reduced dihydropyrimidine dehydrogenase activity intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0017113 ! dihydropyrimidine dehydrogenase (NADP+) activity [Term] id: HP:0000777 ! Abnormality of the thymus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9607 ! Thymus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000795 ! Abnormality of the urethra intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:19667 ! Urethra intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000811 ! Abnormal external genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:45643 ! External genitalia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000812 ! Abnormal internal genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:45652 ! Internal genitalia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000820 ! Abnormality of the thyroid gland intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9603 ! Thyroid gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008188 ! Thyroid dysplasia/aplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0008249 ! Thyroid hyperplasia intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0005990 ! Thyroid hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0002890 ! Thyroid carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:549 ! carcinoma intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0000150 ! Gonadoblastoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:315 ! gonadoblastoma [Term] id: HP:0002865 ! Medullary thyroid carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:291 ! medullary carcinoma intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0000834 ! Abnormality of the adrenal glands intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9604 ! Adrenal gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100631 ! Adrenal neoplasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9604 ! Adrenal gland intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0000837 ! Elevated gonadotropins intersection_of: PATO:0001688 ! increased elevation intersection_of: inheres_in FMA:83362 ! Gonadotropin [Term] id: HP:0000841 ! Hyperactive renin-angiotensin system intersection_of: PATO:0000760 ! increased behavioural activity intersection_of: inheres_in FMA:74787 ! Renin-angiotensin system [Term] id: HP:0000847 ! Abnormality of renin-angiotensin system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:74787 ! Renin-angiotensin system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000855 ! Insulin resistance intersection_of: PATO:0001552 ! decreased sensitivity of a process intersection_of: towards CHEBI:5931 ! insulin [Term] id: HP:0000947 ! Dumbbell-shaped long bones intersection_of: PATO:0001876 ! dumbbell-shaped intersection_of: inheres_in FMA:7474 ! Long bone [Term] id: HP:0000958 ! Dry skin intersection_of: PATO:0001801 ! dehydrated intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0007392 ! Excessive wrinkled skin intersection_of: PATO:0001810 ! wrinkled intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0007605 ! Excessive wrinkling of palmar skin intersection_of: PATO:0001810 ! wrinkled intersection_of: inheres_in FMA:38301 ! Skin of palm of hand [Term] id: HP:0000607 ! Periorbital wrinkles intersection_of: PATO:0001810 ! wrinkled intersection_of: inheres_in FMA:59350 ! Skin of orbital part of face [Term] id: HP:0001016 ! Excessive wrinkled skin (palms and soles) intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0007392 ! Excessive wrinkled skin intersection_of: has_part HP:0007605 ! Excessive wrinkling of palmar skin [Term] id: HP:0000963 ! Thin skin intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0000971 ! Abnormality of the sweat gland intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59152 ! Sweat gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000080 ! Abnormality of genital physiology intersection_of: PATO:0001509 ! functionality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:7160 ! Genital system [Term] id: HP:0000082 ! Abnormality of renal physiology intersection_of: PATO:0001509 ! functionality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000977 ! Soft skin intersection_of: PATO:0000387 ! soft intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0001015 ! Prominent superficial veins intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:76719 ! Superficial vein [Term] id: HP:0001030 ! Fragile skin intersection_of: PATO:0001362 ! fragile intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0001035 ! Abnormality of keratinization intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0031424 ! keratinization intersection_of: qualifier PATO:0000460 ! abnormal !!! merged_into HP:0011368 ! Epidermal thickening [Term] id: HP:0004334 ! Dermal atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0001090 ! Large eyes intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0001103 ! Abnormality of the macula intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:58637 ! Macula lutea intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001155 ! Abnormality of the hand intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9712 ! Hand intersection_of: qualifier PATO:0000460 ! abnormal !This is a second pattern that we could follow, search for HP:0004209 for the other one ![Term] !id: HP:0004209 ! fifth finger clinodactyly !intersection_of: HP:0009466 ! clinodactyly !intersection_of: inheres_in FMA:24949 ! little finger [Term] id: HP:0001163 ! Abnormality of the metacarpal bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9612 ! Metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004279 ! Hypoplastic hand intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:9712 ! Hand [Term] id: HP:0004278 ! Synostosis involving bones of the hand intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:24159 ! Skeleton of hand intersection_of: towards FMA:24159 ! Skeleton of hand [Term] id: HP:0001167 ! Abnormality of the fingers intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9712 ! Hand intersection_of: inheres_in FMA:9666 ! Finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001169 ! Broad hands intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:9712 ! Hand [Term] id: HP:0001182 ! Tapered fingers intersection_of: PATO:0001500 ! tapered intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0009778 ! Hypoplastic/small thumb intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0009623 ! Proximally placed thumb intersection_of: PATO:0002179 ! mislocalised proximally intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0009660 ! Hypoplastic/small phalanges of the thumb intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0001191 ! Abnormality of the carpal bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23889 ! Carpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001196 ! Short umbilical cord intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:85541 ! Umbilical cord [Term] id: HP:0001220 ! Interphalangeal joint contractures (hands) intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35285 ! Interphalangeal joint of finger [Term] id: HP:0001222 ! Spatulate thumbs intersection_of: PATO:0001937 ! spatulate intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0003019 ! Abnormality of the wrist intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24922 ! Wrist intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001227 ! Abnormality of the thenar eminence intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61520 ! Thenar eminence intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001239 ! Wrist contractures intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:24922 ! Wrist [Term] id: HP:0001273 ! Abnormality of the corpus callosum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:86464 ! Corpus callosum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001308 ! Tongue fasciculations intersection_of: HP:0002380 ! Fasciculations intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0001317 ! Abnormality of the cerebellum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:67944 ! Cerebellum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002059 ! Cerebral atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:62000 ! Telencephalon [Term] id: HP:0001272 ! Cerebellar atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0002506 ! Diffuse cerebral atrophy intersection_of: HP:0002059 ! Cerebral atrophy intersection_of: qualifier PATO:0000635 ! unlocalised [Term] id: HP:0100275 ! Diffuse cerebellar atrophy intersection_of: HP:0001272 ! Cerebellar atrophy intersection_of: qualifier PATO:0000635 ! unlocalised [Term] id: HP:0002283 ! Diffuse brain atrophy intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0002506 ! Diffuse cerebral atrophy intersection_of: has_part HP:0100275 ! Diffuse cerebellar atrophy [Term] id: HP:0002621 ! Atherosclerosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:28 ! atherosclerosis [Term] id: HP:0007759 ! Opacification of the corneal stroma intersection_of: PATO:0000957 ! opacity intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:58306 ! Substantia propria of cornea [Term] id: _:subcapsular_posterior_polar_region_of_lens intersection_of: FMA:58067 ! Zone of lens intersection_of: part_of FMA:58898 ! Posterior pole of lens intersection_of: adjacent_to FMA:58881 ! Capsule of lens [Term] id: HP:0007787 ! Posterior subcapsular cataract intersection_of: PATO:0000963 ! opaque intersection_of: inheres_in _:subcapsular_posterior_polar_region_of_lens [Term] id: HP:0008607 ! Progressive conductive deafness intersection_of: HP:0000367 ! conductive deafness intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0002578 ! Gastroparesis intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:14909 ! Muscle layer of stomach [Term] id: HP:0005649 ! Very short fifth finger middle phalanx intersection_of: PATO:0000569 ! decreased height intersection_of: inheres_in FMA:23933 ! Middle phalanx of index finger intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0003323 ! Muscle weakness, progressive intersection_of: PATO:0001779 ! decreased strength intersection_of: qualifier PATO:0001818 ! progressive intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0001367 ! Abnormality of the joints intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7490 ! Joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100240 ! Synostosis of joints intersection_of: PATO:0000642 ! fused with intersection_of: towards FMA:7490 ! Joint intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0100238 ! Synostosis involving bones of the upper limbs intersection_of: PATO:0000642 ! fused with intersection_of: towards FMA:24139 ! Skeleton of upper limb intersection_of: inheres_in FMA:24139 ! Skeleton of upper limb [Term] id: HP:0001384 ! Abnormality of the hip joint intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:35178 ! Hip joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001392 ! Abnormality of the liver intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7197 ! Liver intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006476 ! Abnormality of the pancreatic islet cells intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:87192 ! Islet cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004298 ! Abnormality of the abdominal wall intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:10429 ! Wall of abdomen proper intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:10429 ! Wall of abdomen proper [Term] id: HP:0006561 ! Lipid accumulation in hepatocytes intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in CL:0000182 ! hepatocyte intersection_of: towards CHEBI:18059 ! lipid [Term] id: HP:0003819 ! Death in childhood intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0016265 ! death [Term] id: HP:0008797 ! Early ossification of capital femoral epiphyses intersection_of: PATO:0000694 ! premature intersection_of: inheres_in _:ossification_capital_femoral_epiphysis [Term] id: _:ossification_capital_femoral_epiphysis is_anonymous: true intersection_of: GO:0001503 ! ossification intersection_of: has_central_participant FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0008789 ! Cone-shaped capital femoral epiphysis intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0003371 ! Enlargement of the proximal femoral epiphysis intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0003090 ! Hypoplasia of the capital femoral epiphysis intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0005041 ! Small, irregular capital femoral epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003090 ! Hypoplasia of the capital femoral epiphysis intersection_of: has_part :irregular_proximal_femoral_epiphysis [Term] id: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis union_of: HP:0003090 ! Hypoplasia of the capital femoral epiphysis union_of: _:absent_capital_femoral_epiphysis ! This should be a named term in HPO [Term] id: _:absent_capital_femoral_epiphysis is_anonymous: true intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32841 ! Proximal epiphysis of femur [Term] id: HP:0001436 ! Abnormality of the foot musculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:50214 ! Musculature of foot intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001500 ! Broad fingers intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0001504 ! Metacarpal osteolysis intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0004299 ! Hernia of the abdominal wall intersection_of: PATO:0000643 ! herniated intersection_of: inheres_in FMA:10429 ! Wall of abdomen proper [Term] id: HP:0100672 ! Vaginal hernia intersection_of: PATO:0000643 ! herniated intersection_of: inheres_in FMA:19949 ! Vagina [Term] id: HP:0008441 ! Herniation of intervertebral nuclei intersection_of: PATO:0000643 ! herniated intersection_of: inheres_in FMA:13550 ! Nucleus pulposus of intervertebral disk [Term] id: HP:0001549 ! Abnormality of the ileum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7208 ! Ileum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006278 ! Ectopic pancreatic tissue intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in FMA:9637 ! Portion of tissue intersection_of: inheres_in_part_of FMA:7198 ! Pancreas [Term] id: HP:0004386 ! Gastrointestinal inflammatory disorder intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract [Term] id: HP:0002604 ! Gastrointestinal telangiectasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! Telangiectasia intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract [Term] id: HP:0004796 ! Gastrointestinal obstruction intersection_of: PATO:0000648 ! obstructed intersection_of: inheres_in_part_of FMA:71132 ! Gastrointestinal tract [Term] id: HP:0002781 ! Upper airway obstruction intersection_of: PATO:0000648 ! obstructed intersection_of: inheres_in_part_of FMA:45661 ! Upper respiratory tract [Term] id: _:lower_airway_obstruction is_anonymous: true intersection_of: PATO:0000648 ! obstructed intersection_of: inheres_in_part_of FMA:45662 ! Lower respiratory tract [Term] id: HP:0002087 ! Abnormality of the upper respiratory tract intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0002781 ! Upper airway obstruction intersection_of: has_part _:lower_airway_obstruction [Term] id: _:bilateral_cleft_lip is_anonymous: true intersection_of: PATO:0002171 ! split bilaterally intersection_of: inheres_in FMA:59816 ! Lip ! TODO: fix [Term] id: HP:0002744 ! Bilateral cleft lip/palate union_of: HP:0000175 ! cleft palate union_of: _:bilateral_cleft_lip [Term] id: HP:0000202 ! Cleft lip/palate union_of: HP:0000175 ! cleft palate union_of: HP:0000204 ! cleft lip [Term] id: _:triangular_nose is_anonymous: true intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0001597 ! Abnormality of the nail intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54326 ! Nail intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001600 ! Abnormality of the larynx intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55097 ! Larynx intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001605 ! Vocal cord paralysis intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in FMA:55457 ! Vocal fold [Term] id: HP:0008757 ! Unilateral vocal cord paralysis intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in FMA:55457 ! Vocal fold intersection_of: qualifier PATO:0000634 ! unilateral [Term] id: HP:0001627 ! Abnormality of the heart intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7088 ! Heart intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001651 ! dextrocardia intersection_of: PATO:0001793 ! right side of intersection_of: inheres_in FMA:7088 ! Heart intersection_of: towards FMA:9576 ! Thorax [Term] id: HP:0005120 ! Abnormality of the cardiac atria intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7088 ! Heart intersection_of: inheres_in FMA:7099 ! Cardiac atrium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001441 ! Abnormality of the musculature of the thigh intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:50208 ! Musculature of thigh intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001633 ! Abnormality of the mitral valve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7235 ! Mitral valve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001637 ! Abnormality of the myocardium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9462 ! Myocardium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001896 ! reticulocytopenia intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards CL:0000558 ! reticulocyte [Term] id: HP:0001638 ! Cardiomyopathy intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:615 ! cardiomyopathy [Term] id: MP:0002795 ! dilated cardiomyopathy intersection_of: PATO:0000001 ! quality intersection_of: has_part _:dilated_heart intersection_of: has_part HP:0001638 ! Cardiomyopathy [Term] id: _:dilated_heart is_anonymous: true intersection_of: PATO:0001571 ! dilated intersection_of: inheres_in FMA:7088 ! Heart !The above is due to MP but maybe it should be: ![Term] !id: MP:0002795 ! dilated cardiomyopathy !intersection_of: PATO:0000001 ! quality !intersection_of: has_part _:dilated_myocardium !intersection_of: has_part HP:0001638 ! cardiomyopathy ! ![Term] !id: _:dilated_myocardium !is_anonymous: true !intersection_of: PATO:0001571 ! dilated !intersection_of: inheres_in FMA:9462 ! Myocardium [Term] id: HP:0001641 ! Abnormality of the pulmonary valve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7246 ! Pulmonary valve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005182 ! Bicuspid pulmonary valve intersection_of: PATO:0002281 ! biscupidate intersection_of: inheres_in FMA:7246 ! Pulmonary valve [Term] id: HP:0001646 ! Abnormality of the aortic valve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7236 ! Aortic valve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010883 ! aortic valve atresia intersection_of: PATO:0001819 ! atresia intersection_of: inheres_in FMA:7236 ! Aortic valve [Term] id: HP:0001679 ! Abnormality of the aorta intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:3734 ! Aorta intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001697 ! Abnormality of the pericardium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9869 ! Pericardium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001702 ! Abnormality of the tricuspid valve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7234 ! Tricuspid valve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005180 ! tricuspid insufficiency intersection_of: PATO:0001628 ! insufficient intersection_of: inheres_in FMA:7234 ! Tricuspid valve [Term] id: HP:0001732 ! Abnormality of the pancreas intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7198 ! Pancreas intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001739 ! Abnormality of the nasopharynx intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54878 ! Nasopharynx intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100630 ! Neoplasia of the nasopharynx intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:54878 ! Nasopharynx intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0001743 ! Abnormality of the spleen intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7196 ! Spleen intersection_of: qualifier PATO:0000460 ! abnormal ! Sandra is investigating [Term] id: HP:0001748 ! Polysplenia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:7196 ! Spleen ! Sandra is investigating [Term] id: HP:0009799 ! Supernumerary spleens intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:7196 ! Spleen [Term] id: HP:0000407 ! Sensorineural hearing impairment intersection_of: HP:0000365 ! Hearing impairment intersection_of: inheres_in FMA:65132 ! Nerve [Term] id: HP:0001771 ! Achilles tendon contracture intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:51061 ! Calcaneal tendon [Term] id: HP:0001780 ! Abnormality of the toes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:25046 ! Toe intersection_of: inheres_in_part_of FMA:9664 ! Foot intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001792 ! Nail hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0006872 ! Cerebral hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:62000 ! Telencephalon [Term] id: HP:0001245 ! Thenar hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:61520 ! Thenar eminence [Term] id: HP:0005247 ! Hypoplasia of the abdominal wall musculature intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9620 ! Muscle of abdomen [Term] id: HP:0001799 ! Short nails intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0001808 ! Fragile nails intersection_of: PATO:0001362 ! fragile intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0001816 ! Thin nails intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0001821 ! Broad nails intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0001832 ! Abnormality of the metatarsal bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24492 ! Metatarsal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001838 ! Vertical talus intersection_of: PATO:0001854 ! vertical intersection_of: inheres_in FMA:9708 ! Talus [Term] id: HP:0001844 ! Abnormality of the hallux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25047 ! Big toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0200027 ! contractures of the toes intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0001863 ! Clinodactyly of feet intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0001864 ! Fifth toe clinodactyly intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:25053 ! Little toe [Term] id: HP:0100043 ! Broad 5th toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:25053 ! Little toe [Term] id: HP:0001872 ! Abnormality of thrombocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of CL:0000762 ! thrombocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001874 ! Abnormality of neutrophil intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62860 ! Neutrophil intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001877 ! Abnormality of erythrocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62845 ! Erythrocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001879 ! Abnormality of eosinophils intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62861 ! Eosinophil intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001881 ! Abnormality of leukocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62852 ! Leukocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001900 ! Increased hemoglobin intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in FMA:62293 ! Hemoglobin [Term] id: HP:0001902 ! Giant platelets intersection_of: PATO:0001940 ! gigantic intersection_of: inheres_in CL:0000233 ! platelet [Term] id: HP:0005537 ! Decreased mean platelet volume intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in CL:0000233 ! platelet [Term] id: HP:0001911 ! Abnormality of granulocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of CL:0000094 ! granulocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001912 ! Abnormality of basophils intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62862 ! Basophil intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001920 ! Renal artery stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:14751 ! Renal artery [Term] id: HP:0001718 ! Mitral stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:7235 ! Mitral valve [Term] id: HP:0001922 ! Vacuolated lymphocytes intersection_of: PATO:0000941 ! vacuolated intersection_of: inheres_in FMA:62863 ! Lymphocyte [Term] id: HP:0001928 ! Abnormality of coagulation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0050817 ! coagulation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001961 ! Hypoplastic heart intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7088 ! Heart [Term] id: HP:0001713 ! Abnormality of the cardiac ventricle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7088 ! Heart intersection_of: inheres_in FMA:7100 ! Cardiac ventricle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001965 ! Abnormality of the scalp intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:46494 ! Scalp intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002000 ! Short columella intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in GO:0043674 ! columella [Term] id: HP:0002002 ! Deep philtrum intersection_of: PATO:0001596 ! increased depth intersection_of: inheres_in FMA:59819 ! Philtrum [Term] id: HP:0006191 ! Deep palmar creases intersection_of: PATO:0001596 ! increased depth intersection_of: inheres_in FMA:281371 ! palmar crease [Term] id: HP:0002003 ! Large forehead intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0002011 ! Abnormality of the central nervous system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55675 ! Neuraxis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002031 ! Abnormality of the esophagus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7131 ! Esophagus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005240 ! Esophageal obstruction intersection_of: PATO:0000648 ! obstructed intersection_of: inheres_in_part_of FMA:7131 ! Esophagus [Term] id: HP:0004791 ! Esophageal ulceration intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:579 ! ulcer intersection_of: inheres_in FMA:7131 ! Esophagus [Term] id: HP:0005229 ! Jejunoileal ulceration intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:579 ! ulcer intersection_of: inheres_in FMA:7207 ! Jejunum [Term] id: HP:0002034 ! Abnormality of the rectum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:14544 ! Rectum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002057 ! Prominent glabella intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:52851 ! Glabella [Term] id: HP:0002061 ! Lower limb spasticity intersection_of: HP:0001257 ! Spasticity intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0002062 ! Abnormality of the pyramidal tracts intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:72634 ! Pyramidal tract intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002070 ! Limb ataxia intersection_of: HP:0001251 ! Ataxia intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0002079 ! Hypoplasia of the corpus callosum intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0002088 ! Abnormality of the lung intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7195 ! Lung intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002097 ! emphysema intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:31 ! emphysema intersection_of: inheres_in FMA:7195 ! Lung [Term] id: HP:0100526 ! Neoplasia of the lungs intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7195 ! Lung intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0002090 ! Pneumonia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:7195 ! Lung intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0010935 ! Abnormality of the upper urinary tract intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:45658 ! Upper urinary tract intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002664 ! Neoplasia intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0100615 ! Ovarian neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7209 ! Ovary [Term] id: HP:0100522 ! Thymoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:351 ! Thymoma [Term] id: HP:0000078 ! Abnormality of the genital system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7160 ! Genital system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100022 ! Abnormality of movement intersection_of: PATO:0000001 ! quality intersection_of: inheres_in NBO:0000403 ! voluntary movement behavior intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000079 ! Abnormality of the urinary system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7159 ! Urinary system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100547 ! Abnormality of the forebrain intersection_of: PATO:0000051 ! morphology intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:61992 ! Forebrain [Term] id: HP:0010616 ! Lung fibroma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7195 ! Lung intersection_of: towards MPATH:407 ! Fibroma [Term] id: HP:0010619 ! Fibroma of the breast intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:407 ! Fibroma intersection_of: inheres_in FMA:9601 ! Breast [Term] id: HP:0010618 ! Ovarian fibroma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7209 ! Ovary intersection_of: towards MPATH:407 ! Fibroma [Term] id: HP:0010617 ! Cardiac fibroma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7088 ! Heart intersection_of: towards MPATH:407 ! Fibroma [Term] id: HP:0010614 ! Fibroma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:407 ! Fibroma [Term] id: HP:0010615 ! Angiofibromas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:236 ! angiofibroma [Term] id: HP:0002883 ! hyperventilation intersection_of: PATO:0000380 ! increased frequency intersection_of: inheres_in GO:0007585 ! respiratory gaseous exchange intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0002884 ! Hepatoblastoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:356 ! Hepatoblastoma [Term] id: HP:0002103 ! Abnormality of the pleura intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9583 ! Pleura intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100002 ! Pleural mesothelioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:365 ! mesothelioma intersection_of: inheres_in FMA:9583 ! Pleura intersection_of: qualifier PATO:0002097 ! malignant [Term] id: HP:0100527 ! Neoplasia of the pleura intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9583 ! Pleura intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0002134 ! Abnormality of the basal ganglia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62514 ! Basal ganglion of telencephalon intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002188 ! Delayed myelination intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0042552 ! myelination [Term] id: HP:0002198 ! Enlarged fourth ventricle intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:78469 ! Fourth ventricle [Term] id: HP:0002208 ! Coarse hair intersection_of: PATO:0000700 ! rough intersection_of: inheres_in FMA:53667 ! Hair [Term] id: HP:0002286 ! Light colored hair intersection_of: PATO:0000665 ! high brightness intersection_of: inheres_in FMA:53667 ! Hair [Term] id: HP:0002215 ! Sparse axillary hair intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in FMA:54253 ! Hair of axilla [Term] id: HP:0002221 ! Absent axillary hair intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:54253 ! Hair of axilla [Term] id: HP:0002223 ! Absent eyebrows intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:54237 ! Eyebrow [Term] id: HP:0002225 ! Sparse pubic hair intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in FMA:54319 ! Pubic hair [Term] id: HP:0002226 ! White eyebrows intersection_of: PATO:0000323 ! white intersection_of: inheres_in FMA:54237 ! Eyebrow [Term] id: HP:0002227 ! White eyelashes intersection_of: PATO:0000323 ! white intersection_of: inheres_in FMA:53669 ! Eyelash [Term] id: HP:0002242 ! Abnormality of the intestine intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7199 ! Intestine intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005606 ! Hyperpigmented nevi and streak intersection_of: PATO:0000498 ! increased duration intersection_of: inheres_in MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: has_central_participant FMA:7199 ! Intestine [Term] id: HP:0002584 ! Intestinal bleeding intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:7200 ! Small intestine intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation [Term] id: HP:0002246 ! Abnormality of the duodenum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7206 ! Duodenum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002250 ! Abnormality of the large intestine intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7201 ! Large intestine intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004362 ! Abnormality of the enteric ganglia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:5896 ! Enteric ganglion intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000160 ! Narrow mouth intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:49184 ! Mouth [Term] id: HP:0002267 ! Exaggerated startle response intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in GO:0001964 ! startle response [Term] id: HP:0002270 ! Abnormality of the autonomic nervous system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9905 ! Autonomic nervous system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002281 ! Gray matter heterotopias intersection_of: HP:0002282 ! Heterotopia intersection_of: inheres_in FMA:67242 ! Gray matter of neuraxis ![Term] !id: HP:0002282 ! Heterotopia !intersection_of: PATO:0000628 ! ectopic !intersection_of: inheres_in FMA:67498 ! Organ [Term] id: HP:0002282 ! Heterotopia intersection_of: PATO:0000628 ! ectopic intersection_of: inheres_in FMA:70333 ! Neural cell [Term] id: HP:0002297 ! Red hair intersection_of: PATO:0000322 ! red intersection_of: inheres_in FMA:53667 ! Hair [Term] id: HP:0002298 ! Absent hair intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:53667 ! Hair [Term] id: HP:0002319 ! Thin corpus callosum intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0002339 ! Abnormality of the caudate nucleus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61833 ! Caudate nucleus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002346 ! Head tremor intersection_of: HP:0001337 ! Tremor intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0001337 ! tremor intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000589 ! tremor [Term] id: HP:0002363 ! Abnormality of the brainstem intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:79876 ! Brainstem intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002378 ! Hand tremor intersection_of: HP:0001337 ! Tremor intersection_of: inheres_in FMA:9712 ! Hand [Term] id: HP:0002395 ! Lower limb hyperreflexia intersection_of: HP:0001347 ! Hyperreflexia intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0002406 ! Limb dysmetria intersection_of: HP:0001310 ! Dysmetria intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0002418 ! Abnormality of the midbrain intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61993 ! Midbrain intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002443 ! Abnormality of the hypothalamus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62008 ! Hypothalamus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002444 ! Hypothalamic hamartoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:62008 ! Hypothalamus intersection_of: towards MPATH:74 ! hamartoma [Term] id: HP:0002119 ! Ventriculomegaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:82553 ! Ventricle intersection_of: inheres_in_part_of FMA:50801 ! Brain [Term] id: HP:0001342 ! Cerebral hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in FMA:50801 ! Brain [Term] id: HP:0001714 ! Ventricular hypertrophy intersection_of: PATO:0000585 ! hypotrophic intersection_of: inheres_in FMA:82553 ! Ventricle [Term] id: HP:0002450 ! Abnormality of the motor neurons intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:83617 ! Motor neuron intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002453 ! Abnormality of the globus pallidus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61835 ! Globus pallidus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002472 ! Small cerebral cortex intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:61830 ! Cerebral cortex [Term] id: HP:0002120 ! Cerebral cortical atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:61830 ! Cerebral cortex [Term] id: HP:0002048 ! Renal cortical atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:15581 ! Cortex of kidney [Term] id: HP:0002500 ! Abnormality of the cerebral white matter intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:241998 ! Cerebral white matter intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002509 ! Limb hypertonia intersection_of: HP:0001276 ! Hypertonia intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0002451 ! Limb dystonia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000598 ! dystonia intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0002520 ! Abnormal myelination intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0042552 ! myelination intersection_of: qualifier PATO:0000460 ! abnormal !!! merged_into HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0100614 ! myositis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:200 ! myositis ![Term] !id: HP:0002530 ! Axial dystonia !intersection_of: HP:0001332 ! Dystonia !intersection_of: inheres_in FMA:74547 ! Axial [Term] id: HP:0002538 ! Abnormality of the cerebral cortex intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61830 ! Cerebral cortex intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002550 ! Absent facial hair intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:54360 ! Hair of face [Term] id: HP:0002553 ! Arched eyebrows intersection_of: PATO:0001594 ! arched intersection_of: inheres_in FMA:54237 ! Eyebrow [Term] id: HP:0000156 ! High-arched palate intersection_of: PATO:0002162 ! high-arched intersection_of: inheres_in FMA:54549 ! Palate [Term] id: HP:0002555 ! Absent pubic hair intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:54319 ! Pubic hair [Term] id: HP:0002577 ! Abnormality of the stomach intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7148 ! Stomach intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005263 ! Gastritis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:7148 ! Stomach [Term] id: HP:0002585 ! Abnormality of the peritoneum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9584 ! Peritoneum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001541 ! Ascites intersection_of: PATO:0002002 ! having extra physical parts intersection_of: inheres_in FMA:14704 ! Peritoneal cavity intersection_of: towards FMA:9673 ! Tissue fluid [Term] id: HP:0100003 ! Peritoneal mesothelioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:365 ! mesothelioma intersection_of: inheres_in FMA:9584 ! Peritoneum intersection_of: qualifier PATO:0002097 ! malignant [Term] id: HP:0005200 ! Retroperitoneal fibrosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:181 ! fibrosis intersection_of: inheres_in FMA:9584 ! Peritoneum [Term] id: HP:0002586 ! Peritonitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:9584 ! Peritoneum [Term] id: HP:0002597 ! Abnormality of the vasculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:69050 ! Vasculature intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100659 ! Abnormality of the cerebral vasculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:50801 ! Brain intersection_of: inheres_in FMA:69050 ! Vasculature intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002620 ! Systemic artery abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:69050 ! Vasculature intersection_of: inheres_in FMA:50720 ! Artery intersection_of: qualifier PATO:0000460 ! abnormal ! 9.02.2012 commented out because of strange inferences... ![Term] !id: HP:0002627 ! Right aortic arch !intersection_of: PATO:0001793 ! right side of !intersection_of: inheres_in FMA:7394 ! Trachea !intersection_of: inheres_in FMA:3768 ! Arch of aorta [Term] id: HP:0002638 ! Superficial thrombophlebitis intersection_of: HP:0004418 ! Thrombophlebitis intersection_of: inheres_in FMA:30330 ! Superficial [Term] id: HP:0002641 ! Peripheral thrombosis intersection_of: HP:0001977 ! Thrombosis intersection_of: inheres_in FMA:74552 ! Peripheral [Term] id: HP:0002720 ! Decreased IgA intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards FMA:62874 ! Immunoglobulin A intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0002732 ! Lymph node hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:5034 ! Lymph node [Term] id: HP:0002733 ! Abnormality of the lymph nodes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:5034 ! Lymph node intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002778 ! Abnormality of the trachea intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7394 ! Trachea intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009943 ! Complete duplication of the phalanges of the thumb intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:35477 ! Phalanx of thumb [Term] id: HP:0002814 ! Abnormality of the lower limb intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7184 ! Lower limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000932 ! Abnormality of the posterior cranial fossa intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:54368 ! Posterior cranial fossa intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002815 ! Abnormality of the knees intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24974 ! Knee intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002817 ! Abnormality of the upper limb intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7183 ! Upper limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002818 ! Abnormality of the radius intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23463 ! Radius intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002850 ! Decreased IgM intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards FMA:62873 ! Immunoglobulin M intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0002916 ! Abnormality of chromosome segregation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0005694 ! chromosome intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009811 ! Abnormality of the elbow intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24901 ! Elbow intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002973 ! Abnormality of the forearm intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9663 ! Forearm intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002978 ! Knee contractures intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:24974 ! Knee [Term] id: HP:0002984 ! Hypoplasia of the radius intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0002987 ! Elbow contractures intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:24901 ! Elbow [Term] id: HP:0002991 ! Abnormality of the fibula intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24479 ! Fibula intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002992 ! Abnormality of the tibia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24476 ! Tibia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002997 ! Abnormality of the ulna intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23466 ! Ulna intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006459 ! Dorsal subluxation of ulna intersection_of: PATO:0001919 ! mislocalised dorsally intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0005036 ! unilateral ulnar hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23466 ! Ulna intersection_of: qualifier PATO:0000634 ! unilateral [Term] id: HP:0005254 ! Unilateral chest hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24816 ! Anterior chest intersection_of: qualifier PATO:0000634 ! unilateral [Term] id: HP:0003028 ! Abnormality of the ankles intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9665 ! Ankle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003045 ! Abnormality of the patella intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24485 ! Patella intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010499 ! Patellar subluxation intersection_of: PATO:0002157 ! partially dislocated intersection_of: inheres_in FMA:24485 ! Patella [Term] id: HP:0003083 ! Dislocated radial head intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:33773 ! Head of radius [Term] id: HP:0005084 ! anterior dislocation of radial head intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:33773 ! Head of radius [Term] id: HP:0003099 ! Fibular overgrowth intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:24479 ! Fibula [Term] id: HP:0003107 ! Abnormality of cholesterol metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0008203 ! cholesterol metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003119 ! Abnormality of lipid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0006629 ! lipid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003136 ! Decreased hemoglobin intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:62293 ! Hemoglobin [Term] id: HP:0003173 ! Hypoplastic pubic bones intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:16595 ! Pubis [Term] id: HP:0008817 ! Aplastic pubic bones intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:16595 ! Pubis [Term] id: HP:0009777 ! Aplasia of the thumb intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0004231 ! Carpal bone aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0003172 ! Abnormality of the pubic bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:16595 ! Pubis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003183 ! Wide pubic symphysis intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:16950 ! Pubic symphysis [Term] id: HP:0003189 ! Long nose intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0100637 ! Neoplasia of the nose intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:46472 ! Nose intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0003246 ! Prominent scrotal raphe intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:75130 ! Raphe of scrotum [Term] id: HP:0003250 ! Aplasia of the vagina intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:19949 ! Vagina [Term] id: HP:0003259 ! Increased creatinine intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in CHEBI:16737 ! creatinine [Term] id: HP:0003275 ! Narrow pelvis intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:9578 ! Pelvis [Term] id: HP:0003287 ! Abnormality of mitochondrial metabolism intersection_of: HP:0001427 ! Mitochondrial inheritance intersection_of: inheres_in_part_of GO:0008152 ! metabolic process intersection_of: qualifier PATO:0000460 ! abnormal ! Need all 5 subtypes - not present in HPO - I am reviewig this ![Term] !id: HP:0006730 ! Myelodysplastic syndrome !intersection_of: PATO:0000001 ! quality !intersection_of: has_part HP:0001875 ! neutropenia !intersection_of: has_part HP:0001873 ! thrombocytopenia !intersection_of: has_part HP:0001903 ! anemia !intersection_of: has_part HP:0001744 ! splenomegaly !intersection_of: has_part HP:0002240 ! hepatomegaly !intersection_of: has_part _:cytoplasmic_granule_abnormality !intersection_of: has_part _:cell_nucleus_abnormality !intersection_of: has_part HP:0002916 ! Abnormality of the chromosomes ! This should be a named term in HPO ! ![Term] !id: _:cytoplasmic_granule_abnormality !is_anonymous: true !intersection_of: PATO:0000001 ! quality !intersection_of: inheres_in FMA:63033 ! Cytoplasmic granule !intersection_of: qualifier PATO:0000460 ! abnormal ! ! This should be a named term in HPO ! ![Term] !id: _:cell_nucleus_abnormality !is_anonymous: true !intersection_of: PATO:0000001 ! quality !intersection_of: inheres_in FMA:63840 ! Cell nucleus !intersection_of: qualifier PATO:0000460 ! abnormal ! This should be a named term in HPO [Term] id: _:squared_pelvis is_anonymous: true intersection_of: PATO:0000413 ! square intersection_of: inheres_in FMA:9578 ! Pelvis [Term] id: HP:0003278 ! Small, squared off pelvis intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003373 ! Small pelvis intersection_of: has_part _:squared_pelvis [Term] id: HP:0005883 ! Broad thumbs and broad great toes intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010055 ! Broad hallux intersection_of: has_part HP:0009651 ! Broad phalanges of the thumb [Term] id: HP:0010111 ! Hypoplastic/small phalanges of the hallux union_of: _:hypoplastic_phalanx_of_the_big_toe union_of: _:small_phalanx_of_the_big_toe ! This should be a named term in HPO [Term] id: _:hypoplastic_phalanx_of_the_big_toe is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:32884 ! Phalanx of big toe ! This should be a named term in HPO [Term] id: _:small_phalanx_of_the_big_toe is_anonymous: true intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0006118 ! Hypoplastic distal and middle phalanges intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009882 ! Hypoplasia of the distal phalanges of the hand intersection_of: has_part HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0003398 ! Abnormality of the neuromuscular junction intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0031594 ! neuromuscular junction intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux union_of: HP:0010110 ! Aplasia of the phalanges of the hallux union_of: HP:0010111 ! Hypoplastic/small phalanges of the hallux [Term] id: HP:0003408 ! Thin myelin sheaths intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in GO:0043209 ! myelin sheath !!! merged_into HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003427 ! Thenar muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:64916 ! Thenar muscle [Term] id: HP:0003429 ! Hypomyelination intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0042552 ! myelination [Term] id: HP:0003451 ! Increased rate of premature chromosome condensation intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0030261 ! chromosome condensation [Term] id: HP:0200024 ! Premature chromatid separation intersection_of: PATO:0000694 ! premature intersection_of: inheres_in GO:0000819 ! sister chromatid segregation [Term] id: HP:0003464 ! Abnormal cholesterol homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0042632 ! cholesterol homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011014 ! Abnormal glucose homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0042593 ! glucose homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003528 ! Elevated calcitonin intersection_of: PATO:0001688 ! increased elevation intersection_of: inheres_in FMA:83348 ! Calcitonin [Term] id: HP:0003267 ! Reduced orotidine 5-prime phosphate decarboxylase activity intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0004590 ! orotidine 5'-phosphate decarboxylase activity [Term] id: HP:0003524 ! Decreased methionine synthase activity intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0006555 ! methionine metabolic process [Term] id: HP:0003536 ! Decreased fumarate hydratase activity intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0004333 ! fumarate hydratase activity [Term] id: HP:0003649 ! Abnormality of glycoside metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0016137 ! glycoside metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003796 ! Irregular iliac crest intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:16914 ! Iliac crest [Term] id: HP:0003864 ! Bifid humerus intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0003871 ! Deformed humerus intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0003873 ! Fractured humerus intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:13303 ! Humerus !!! merged_into HP:0003870 ! Crumpled humerus [Term] id: HP:0003883 ! Tapered humerus intersection_of: PATO:0001500 ! tapered intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0003884 ! Triangular humerus intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0003917 ! Pointed humeral metaphysis intersection_of: PATO:0000944 ! sharpness intersection_of: inheres_in FMA:32830 ! Metaphysis of humerus [Term] id: HP:0003923 ! Square humeral metaphysis intersection_of: PATO:0000413 ! square intersection_of: inheres_in FMA:32830 ! Metaphysis of humerus [Term] id: HP:0003926 ! Abnormality of the humeral diaphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:13305 ! Diaphysis of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003946 ! Abnormality of the epiphyses of the elbow intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24901 ! Elbow intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003947 ! Delayed maturation/delayed ossification of the epiphyses of the elbow intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant _:elbow_epiphysis [Term] id: HP:0003976 ! Constricted radius intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0003977 ! Deformed radius intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0003978 ! Fractured radius intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0003987 ! Fractured ulna intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003988 ! Long ulna intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003989 ! Notched ulna intersection_of: PATO:0001495 ! notched intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003990 ! Pointed ulna intersection_of: PATO:0000944 ! sharpness intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003994 ! Dislocated wrist intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:24922 ! Wrist [Term] id: HP:0003995 ! Abnormality of the radial head intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33773 ! Head of radius intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005739 ! Posterior subluxation of radial head intersection_of: PATO:0001922 ! mislocalised posteriorly intersection_of: inheres_in FMA:33773 ! Head of radius [Term] id: HP:0003984 ! Posteriorly dislocated ulna intersection_of: PATO:0001922 ! mislocalised posteriorly intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003835 ! Shoulder subluxation intersection_of: PATO:0002157 ! partially dislocated intersection_of: inheres_in FMA:25202 ! Shoulder [Term] id: HP:0004230 ! Subluxation of the proximal interphalangeal joint of the little finger intersection_of: PATO:0002157 ! partially dislocated intersection_of: inheres_in FMA:35324 ! Proximal interphalangeal joint of little finger [Term] id: HP:0003048 ! Radial head subluxation intersection_of: PATO:0002157 ! partial dislocated intersection_of: inheres_in FMA:33773 ! Head of radius intersection_of: towards FMA:7490 ! Joint [Term] id: HP:0003320 ! C1-C2 subluxation intersection_of: PATO:0002157 ! partial dislocated intersection_of: inheres_in FMA:12520 ! Axis intersection_of: towards FMA:12519 ! Atlas [Term] id: HP:0003308 ! Cervical subluxation intersection_of: PATO:0002157 ! partially dislocated intersection_of: inheres_in_part_of FMA:9915 ! Cervical vertebra [Term] id: HP:0003997 ! Hypoplastic radial head intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:33773 ! Head of radius [Term] id: HP:0008823 ! Hypoplastic inferior pubic rami intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:16989 ! Inferior pubic ramus [Term] id: HP:0008830 ! Hypoplastic pubic rami intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in _:pubic_rami [Term] id: HP:0003998 ! Constricted radial neck intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:23479 ! Neck of radius [Term] id: HP:0004019 ! Irregular radial metaphysis intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:33789 ! Metaphysis of radius [Term] id: HP:0004027 ! Abnormality of radial diaphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33782 ! Diaphysis of radius intersection_of: qualifier PATO:0000460 ! abnormal ! This should be a named term in HPO [Term] id: _:sclerosis_of_radial_diaphysis is_anonymous: true intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:33782 ! Diaphysis of radius [Term] id: HP:0010568 ! Hamartomas of the eye intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:12513 ! Eyeball intersection_of: towards MPATH:74 ! hamartoma [Term] id: HP:0004030 ! Patchy sclerosis of radial diaphysis intersection_of: _:sclerosis_of_radial_diaphysis intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0004032 ! Abnormality of the olecranon intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:39795 ! Olecranon intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004033 ! Curved olecranon intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:39795 ! Olecranon [Term] id: HP:0004034 ! Irregular olecranon intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:39795 ! Olecranon [Term] id: HP:0004281 ! Irregular sclerosis of hand bones intersection_of: HP:0004054 ! Sclerosis of hand bones intersection_of: qualifier PATO:0000330 ! irregular spatial pattern [Term] id: HP:0004039 ! Abnormality of ulnar metaphysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33767 ! Metaphysis of ulna intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004043 ! Lytic defects of ulnar metaphysis intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:33767 ! Metaphysis of ulna [Term] id: HP:0004042 ! Irregular ulnar metaphysis intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:33767 ! Metaphysis of ulna [Term] id: HP:0004044 ! Pointed ulnar metaphysis intersection_of: PATO:0000944 ! sharpness intersection_of: inheres_in FMA:33767 ! Metaphysis of ulna [Term] id: HP:0004050 ! Absent hands intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24159 ! Skeleton of hand [Term] id: HP:0009618 ! Abnormality of the proximal phalanx of the thumb intersection_of: PATO:0001195 ! proximal to intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009944 ! Partial duplication of the phalanges of the thumb intersection_of: PATO:0000403 ! cleft intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0009942 ! Partial/complete duplication of phalanges of the thumb union_of: HP:0009944 ! Partial duplication of the phalanges of the thumb union_of: HP:0009943 ! Complete duplication of the phalanges of the thumb [Term] id: HP:0006265 ! Aplasia/Hypoplasia of fingers union_of: HP:0009380 ! absent fingers union_of: HP:0009381 ! hypoplastic fingers [Term] id: HP:0009380 ! Aplasia of the fingers intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:9666 ! Finger [Term] id: HP:0004095 ! Curved fingers intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0009381 ! Hypoplastic/small fingers intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0004099 ! Macrodactyly intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0009536 ! Hypoplastic/small 2nd finger intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:24946 ! Index finger ! TODO: change to duplication of phalanx of index finger ?? [Term] id: HP:0009946 ! Polydactyly affecting the 2nd finger intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards FMA:24946 ! Index finger [Term] id: HP:0010022 ! Pseudoepiphysis of the 1st metacarpal intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:33793 ! Epiphysis of first metacarpal bone intersection_of: inheres_in FMA:23899 ! First metacarpal bone [Term] id: HP:0009461 ! Hypoplastic/small 3rd finger intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:24947 ! Middle finger [Term] id: HP:0009958 ! Polydactyly affecting the 3rd finger intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards FMA:24947 ! Middle finger ![Term] !id: HP:0009438 ! absent middle phalanx of middle finger !intersection_of: PATO:0002000 ! lacking physical part !intersection_of: towards FMA:23934 ! middle phalanx of middle finger ![Term] !id: HP:0009439 ! short middle phalanx of middle finger !intersection_of: PATO:0000574 ! decreased length !intersection_of: inheres_in FMA:23934 ! middle phalanx of middle finger [Term] id: HP:0009280 ! Hypoplastic/small 4th finger intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:24948 ! Ring finger ![Term] !id: HP:0009295 ! short middle phalanx of ring finger !intersection_of: PATO:0000574 ! decreased length !intersection_of: inheres_in FMA:23935 ! middle phalanx of ring finger [Term] id: HP:0004236 ! Irregular carpal bones intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0004237 ! Large carpal bones intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0000057 ! Clitoromegaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9909 ! Clitoris [Term] id: HP:0004243 ! Abnormality of the scaphoid intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23709 ! Scaphoid intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004247 ! Small scaphoid intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:23709 ! Scaphoid [Term] id: HP:0004248 ! Abnormality of the lunate bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23712 ! Lunate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004250 ! Proximally placed lunate intersection_of: PATO:0002179 ! mislocalised proximally intersection_of: inheres_in FMA:23712 ! Lunate [Term] id: HP:0004252 ! Abnormality of the trapezium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23721 ! Trapezium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004255 ! Small trapezium intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:23721 ! Trapezium [Term] id: HP:0004256 ! Abnormality of the trapezoid bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23724 ! Trapezoid intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004258 ! Small trapezoid bone intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:23724 ! Trapezoid [Term] id: HP:0004259 ! Abnormality of the hamate bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23730 ! Hamate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004260 ! Large hamate bone intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:23730 ! Hamate [Term] id: HP:0004262 ! Abnormality of the capitate bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:23727 ! Capitate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004263 ! Large capitate bone intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:23727 ! Capitate [Term] id: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand union_of: HP:0004279 ! hypoplastic hand union_of: HP:0004050 ! Absent hands [Term] id: HP:0004283 ! Narrow hand intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in_part_of FMA:24159 ! Skeleton of hand [Term] id: HP:0004295 ! Abnormality of the gastric mucosa intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:14907 ! Mucosa of stomach intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004297 ! Abnormality of the biliary system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:79646 ! Biliary system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004306 ! Abnormality of the endocardium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7280 ! Endocardium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004311 ! Abnormality of macrophages intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:63261 ! Macrophage intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004312 ! Abnormality of reticulocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:66785 ! Reticulocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004315 ! Decreased IgG level intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards FMA:62872 ! Immunoglobulin G intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0004323 ! Abnormality of body weight intersection_of: PATO:0000128 ! weight intersection_of: inheres_in FMA:256135 ! Body intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004324 ! Increased body weight intersection_of: PATO:0000582 ! increased weight intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0004325 ! Decreased body weight intersection_of: PATO:0000583 ! decreased weight intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0002846 ! Abnormality of B cells intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in CL:0000236 ! B cell [Term] id: HP:0004327 ! Abnormality of the vitreous humor intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:58822 ! Whole portion of vitreous humor intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004332 ! Abnormality of lymphocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62863 ! Lymphocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004337 ! Abnormality of amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006520 ! cellular amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004339 ! Abnormality of sulfur amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0000096 ! sulfur amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004343 ! Abnormality of glycosphingolipid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006687 ! glycosphingolipid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004345 ! Abnormality of ganglioside metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0001573 ! ganglioside metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004354 ! Abnormality of carboxylic acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0019752 ! carboxylic acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004355 ! Abnormality of proteoglycan metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006029 ! proteoglycan metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004357 ! Abnormality of leucine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006551 ! leucine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004358 ! Abnormality of superoxide metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006801 ! superoxide metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003296 ! Hyperthreoninuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:26986 ! threonine [Term] id: HP:0003354 ! Hyperthreoninemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26986 ! threonine [Term] id: HP:0001880 ! Eosinophilia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CL:0000771 ! eosinophil [Term] id: HP:0004366 ! Abnormality of glycolysis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0006096 ! glycolysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004367 ! Abnormality of glycoprotein metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0009100 ! glycoprotein metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100494 ! Abnormality of mast cells intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000097 ! mast cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004368 ! Increased purine levels intersection_of: PATO:0001162 ! increased concentration intersection_of: towards FMA:82772 ! Purine [Term] id: HP:0003149 ! Hyperuricosuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:27226 ! uric acid [Term] id: HP:0002149 ! Hyperuricemia intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CHEBI:27226 ! uric acid intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0004369 ! Decreased purine levels intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards FMA:82772 ! Purine [Term] id: HP:0004371 ! Abnormality of glycosaminoglycan metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0030203 ! glycosaminoglycan metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004400 ! Abnormality of the pylorus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:14581 ! Pylorus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004408 ! Abnormality of the sense of smell intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0007608 ! sensory perception of smell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004414 ! Abnormality of the pulmonary artery intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:66326 ! Pulmonary artery intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004415 ! Pulmonary artery stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:66326 ! Pulmonary artery [Term] id: HP:0004420 ! Arterial thrombosis intersection_of: HP:0001977 ! Thrombosis intersection_of: inheres_in FMA:50720 ! Artery [Term] id: HP:0004426 ! Abnormality of the cheeks intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:46476 ! Cheek intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004930 ! Abnormality of the pulmonary vasculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:73750 ! Vasculature of lung intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005109 ! Abnormality of the Achilles tendon intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:51061 ! Calcaneal tendon intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005264 ! Abnormality of the gallbladder intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7202 ! Gallbladder intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005265 ! Abnormality of the jejunum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7207 ! Jejunum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005288 ! Abnormality of the nares intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59645 ! External naris intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005483 ! Abnormality of the epiglottis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55130 ! Epiglottis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010564 ! Bifid epiglottis intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:55130 ! Epiglottis [Term] id: HP:0005349 ! Hypoplasia of the epiglottis intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:55130 ! Epiglottis [Term] id: HP:0008753 ! Aplasia of the epiglottis intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:55130 ! Epiglottis [Term] id: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis union_of: HP:0008753 ! Aplasia of the epiglottis union_of: HP:0005349 ! hypoplasia of the epiglottis [Term] id: HP:0008746 ! Bifid or hypoplastic epiglottis union_of: HP:0010564 ! Bifid epiglottis union_of: HP:0005349 ! hypoplasia of the epiglottis [Term] id: HP:0009751 ! Aplasia of the pectoralis major muscle intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:9627 ! Pectoralis major [Term] id: HP:0005557 ! Abnormality of the zygomatic arch intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:53120 ! Zygomatic arch intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005916 ! Abnormal metacarpal morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:9612 ! Metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001376 ! Decreased mobility of joints intersection_of: PATO:0002283 ! decreased mobility intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0005922 ! Abnormal hand morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:9712 ! Hand intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006256 ! Abnormality of hand joint mobility intersection_of: PATO:0000004 ! mobility intersection_of: inheres_in_part_of UBERON:0003839 ! forelimb joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006479 ! Abnormality of the dental pulp intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55631 ! Dental pulp intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006481 ! Abnormality of primary teeth intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:75151 ! Primary dentition intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006704 ! Abnormality of the coronary arteries intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:49893 ! Coronary artery intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006705 ! Abnormality of the atrioventricular valves intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7233 ! Atrioventricular valve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006707 ! Abnormality of the hepatic vasculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:73748 ! Vasculature of liver intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007361 ! Abnormality of the pons intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:67943 ! Pons intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007375 ! Abnormality of the septum pellucidum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61844 ! Septum pellucidum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007376 ! Abnormality of the choroid plexus intersection_of: HP:0000610 ! Abnormality of the choroid intersection_of: inheres_in_part_of FMA:75619 ! Plexus [Term] id: HP:0008048 ! Abnormality of the line of Schwalbe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:58422 ! Line of Schwalbe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008050 ! Abnormality of the palpebral fissures intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59110 ! Palpebral fissure intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008051 ! Abnormality of the retinal pigment epithelium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:58627 ! Pigmented layer of retina intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008364 ! Abnormality of the calcaneus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24496 ! Calcaneus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008775 ! Abnormality of the prostate intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9600 ! Prostate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008776 ! Abnormality of the renal artery intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:14751 ! Renal artery intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002570 ! steatorrhea intersection_of: PATO:0002002 ! having extra physical parts intersection_of: inheres_in MA:0002509 ! feces intersection_of: towards FMA:20110 ! Adipose tissue [Term] id: HP:0004444 ! Spherocytosis intersection_of: PATO:0001499 ! spherical intersection_of: inheres_in CL:0000232 ! erythrocyte [Term] id: HP:0004496 ! Posterior choanal atresia intersection_of: HP:0000453 ! Choanal atresia intersection_of: inheres_in FMA:74533 ! Posterior [Term] id: HP:0004497 ! Hypoplastic nostrils intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:59645 ! External naris [Term] id: HP:0008998 ! Pectoralis hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9627 ! Pectoralis major [Term] id: HP:0004782 ! Hypotrichosis of the scalp intersection_of: HP:0001006 ! Hypotrichosis intersection_of: inheres_in FMA:46494 ! Scalp [Term] id: HP:0003098 ! Minor hand anomalies intersection_of: HP:0001155 ! Abnormality of the hand intersection_of: qualifier PATO:0000394 ! mild [Term] id: HP:0004679 ! Large tarsal bones intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:24491 ! Tarsal bone [Term] id: HP:0004688 ! Irregular tarsal bones intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:24491 ! Tarsal bone [Term] id: HP:0004712 ! Malrotation of the kidney intersection_of: PATO:0001599 ! rotated intersection_of: inheres_in FMA:7203 ! Kidney intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0004717 ! Axial malrotation of the kidney !intersection_of: HP:0004712 ! Malrotation of the kidney !intersection_of: inheres_in FMA:74547 ! Axial [Term] id: HP:0004788 ! intestinal lymphedema intersection_of: HP:0001004 ! Lymphedema intersection_of: inheres_in FMA:7199 ! Intestine [Term] id: HP:0001004 ! Lymphedema intersection_of: PATO:0001450 ! edematous intersection_of: inheres_in FMA:7162 ! Lymphatic system [Term] id: HP:0004790 ! small intestine hypoplastic intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7200 ! Small intestine [Term] id: HP:0001943 ! Hypoglycemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17234 ! glucose intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0005510 ! Transient erythroblastopenia intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CL:0000765 ! erythroblast [Term] id: HP:0002148 ! Hypophosphatemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26020 [Term] id: HP:0002901 ! Hypocalcemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:22984 [Term] id: HP:0003072 ! Hypercalcemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:22984 [Term] id: HP:0004646 ! Hypoplasia of the nasal bone intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:52745 ! Nasal bone [Term] id: HP:0005102 ! Cochlear degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:60201 ! Cochlea [Term] id: HP:0008554 ! Cochlear malformation intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:60201 ! Cochlea [Term] id: HP:0000027 ! azoospermia intersection_of: PATO:0002000 ! lacking physical part intersection_of: inheres_in MA:0000396 ! male reproductive system intersection_of: towards CL:0000019 ! sperm [Term] id: HP:0000029 ! Testicular atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0000034 ! Hydrozele testis intersection_of: PATO:0000595 ! increased volume intersection_of: inheres_in _:intrascrotal_fluid [Term] id: HP:0000679 ! Taurodontia intersection_of: PATO:0000595 ! increased volume intersection_of: inheres_in FMA:55631 ! Dental pulp intersection_of: inheres_in_part_of FMA:84207 ! Secondary molar tooth [Term] id: HP:0100516 ! Neoplasm of the ureter intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:9704 ! Ureter [Term] id: HP:0010785 ! Gonadal neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:18250 ! gonad [Term] id: HP:0009713 ! Spinal hemangioblastoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:238 ! hemangioblastoma intersection_of: inheres_in FMA:7647 ! Spinal cord [Term] id: HP:0006880 ! Cerebellar hemangioblastoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:238 ! hemangioblastoma intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0010797 ! hemangioblastoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:238 ! hemangioblastoma [Term] id: HP:0010788 ! Testicular neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0100575 ! Neoplasm of the gallbladder intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7202 ! Gallbladder [Term] id: HP:0010784 ! Uterine neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:17558 ! Uterus [Term] id: HP:0100604 ! Neoplasm of the lip intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:59815 ! Labial part of mouth [Term] id: HP:0100650 ! Vaginal neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:19949 ! Vagina [Term] id: HP:0002894 ! Neoplasm of the pancreas intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0010302 ! Spinal tumor intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7647 ! Spinal cord [Term] id: HP:0003008 ! Multiple tumors intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:218 ! neoplasm intersection_of: qualifier PATO:0002118 ! multiple [Term] id: HP:0002896 ! Neoplasm of the liver intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0009919 ! Retinoblastoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:378 ! retinoblastoma [Term] id: HP:0010622 ! Neoplasia of the skeletal system intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:23875 ! Skeleton [Term] id: HP:0100612 ! Odontogenic neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:379 ! odontogenic tumor [Term] id: HP:0100544 ! Cardiac neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7088 ! Heart [Term] id: HP:0009726 ! Renal neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0002891 ! Uterine leiomyosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:426 ! leiomyosarcoma intersection_of: inheres_in FMA:17558 ! Uterus [Term] id: HP:0006755 ! Cutaneous leiomyosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:426 ! leiomyosarcoma intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0011123 ! Inflammatory abnormality of the skin intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0000964 ! Eczema intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:63183 ! Blood vessel intersection_of: towards FMA:7163 ! Skin [Term] id: HP:0100243 ! Leiomyosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:426 ! leiomyosarcoma [Term] id: HP:0100244 ! Fibrosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:408 ! soft tissue fibrosarcoma [Term] id: HP:0100697 ! Neurofibrosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:437 ! Neurofibrosarcoma [Term] id: HP:0002859 ! Rhabdomyosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:428 ! Rhabdomyosarcoma [Term] id: HP:0006765 ! Chondrosarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:392 ! Chondrosarcoma [Term] id: HP:0006778 ! Benign genitourinary tract neoplasm intersection_of: HP:0007379 ! Genitourinary tract neoplasm intersection_of: qualifier PATO:0002096 ! non-malignant [Term] id: HP:0010786 ! Urinary tract neoplasm intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7159 ! Urinary system [Term] id: HP:0006758 ! Malignant genitourinary tract tumor intersection_of: HP:0007379 ! Genitourinary tract neoplasm intersection_of: qualifier PATO:0002097 ! malignant [Term] id: HP:0100005 ! Testicular mesothelioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:365 ! mesothelioma intersection_of: inheres_in FMA:7210 ! Testis intersection_of: qualifier PATO:0002097 ! malignant [Term] id: HP:0100619 ! Sertoli cell neoplasm intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:331 ! sertoli cell tumor intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0008643 ! Nephroblastomatosis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:574 ! nephroblastomatosis [Term] id: HP:0010799 ! pinealoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:299 ! pinealoma [Term] id: HP:0000072 ! Hydroureter intersection_of: PATO:0000595 ! increased volume intersection_of: inheres_in _:urine_in_ureter [Term] id: HP:0000089 ! Renal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0100242 ! Sarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:551 ! sarcoma [Term] id: HP:0008663 ! Congenital renal sarcoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:426 ! sarcoma intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0011048 ! Agenesis of permanent mandibular central incisor intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:55713 ! Lower secondary incisor tooth [Term] id: HP:0002791 ! hypoventilation intersection_of: PATO:0000381 ! decreased frequency intersection_of: inheres_in GO:0007585 ! respiratory gaseous exchange intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0007772 ! Impaired smooth pursuit intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000446 ! visual pursuit [Term] id: HP:0005503 ! Increased hemolysis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:656 ! hemolysis [Term] id: HP:0011050 ! Agenesis of permanent maxillary lateral incisor intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:55724 ! Upper lateral secondary incisor tooth [Term] id: HP:0000104 ! Renal agenesis intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:7203 ! Kidney [Term] id: HP:0010958 ! Bilateral renal agenesis intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:7203 ! Kidney intersection_of: qualifier PATO:0000618 ! bilateral [Term] id: HP:0008619 ! Bilateral sensorineural hearing impairment intersection_of: HP:0008538 ! sensorineural deafness intersection_of: qualifier PATO:0000618 ! bilateral [Term] id: HP:0000122 ! Unilateral renal agenesis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:7203 ! Kidney intersection_of: qualifier PATO:0000634 ! unilateral [Term] id: HP:0009900 ! Unilateral deafness intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0007605 ! sensory perception of sound intersection_of: qualifier PATO:0000634 ! unilateral [Term] id: HP:0008678 ! Renal hypoplasia/aplasia union_of: HP:0000104 ! renal agenesis union_of: HP:0000089 ! renal hypoplasia [Term] id: HP:0000093 ! Proteinuria intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:16541 ! Protein [Term] id: HP:0000096 ! Glomerulosclerosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:15624 ! Glomerulus intersection_of: towards MPATH:184 [Term] id: HP:0000099 ! Glomerulonephritis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:197 ! glomerulonephritis [Term] id: HP:0000103 ! Polyuria intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in GO:0060073 ! micturition [Term] id: HP:0000126 ! Hydronephrosis intersection_of: PATO:0001571 ! dilated intersection_of: inheres_in FMA:15575 ! Renal pelvis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010946 ! Dilatation of the renal pelvis intersection_of: PATO:0001571 ! dilated intersection_of: inheres_in FMA:15575 ! Renal pelvis [Term] id: HP:0004959 ! Dilatation of the descending thoracic aorta intersection_of: PATO:0001571 ! dilated intersection_of: inheres_in FMA:87217 ! Descending thoracic aorta [Term] id: HP:0000138 ! Ovarian cysts intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7209 ! Ovary intersection_of: towards MPATH:62 ! cyst [Term] id: HP:0000137 ! Abnormality of the ovary intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7209 ! Ovary intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001711 ! Left ventricular abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7101 ! Left ventricle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011078 ! Abnormality of canine intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55636 ! Canine tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011038 ! Abnormality of renal resorption intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0070293 ! renal absorption intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011019 ! Abnormality of chromosome condensation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0030261 ! chromosome condensation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010933 ! Abnormality of xanthine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0046110 ! xanthine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010944 ! Abnormality of the renal pelvis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:15575 ! Renal pelvis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000141 ! Amenorrhea intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0042703 ! menstruation [Term] id: HP:0002104 ! Apnea intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0007585 ! respiratory gaseous exchange ! I need to look at these ... fistula is problematic [Term] id: HP:0000143 ! Rectovaginal fistula intersection_of: MPATH:70 ! fistula intersection_of: inheres_in FMA:14544 ! Rectum intersection_of: towards FMA:19949 ! Vagina [Term] id: HP:0000218 ! High palate intersection_of: PATO:0000570 ! increased height intersection_of: inheres_in FMA:54549 ! Palate [Term] id: HP:0000362 ! Otosclerosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:60179 ! Bony labyrinth intersection_of: towards MPATH:184 [Term] id: HP:0000483 ! Astigmatism intersection_of: PATO:0001848 ! asymmetrically curved intersection_of: inheres_in FMA:58238 ! Cornea [Term] id: HP:0000498 ! Blepharitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:54437 ! Eyelid [Term] id: HP:0010604 ! Cysts of the eyelid intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:54437 ! Eyelid intersection_of: towards MPATH:62 ! cyst [Term] id: HP:0000528 ! Anophthalmia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:12513 ! Eyeball [Term] id: HP:0000573 ! Retinal hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:58301 ! Retina intersection_of: towards MPATH:119 [Term] id: HP:0009711 ! Retinal hemangioblastoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:238 ! hemangioblastoma intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0100312 ! Cerebral germinoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:310 ! germ cell tumor intersection_of: inheres_in FMA:62000 ! Telencephalon [Term] id: HP:0100728 ! Germ cell neoplasia intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:310 ! germ cell tumor [Term] id: HP:0100617 ! Testicular seminoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:317 ! seminoma intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0100621 ! Dysgerminoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:312 ! Dysgerminoma intersection_of: inheres_in FMA:7209 ! Ovary [Term] id: HP:0009594 ! Retinal hamartoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:58301 ! Retina intersection_of: towards MPATH:74 ! hamartoma [Term] id: HP:0009731 ! Cerebral hamartomata intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:62000 ! Telencephalon intersection_of: towards MPATH:74 ! hamartoma [Term] id: HP:0005832 ! Dysharmonic delayed bone age intersection_of: PATO:0000692 ! heterochronic intersection_of: inheres_in GO:0070977 ! bone maturation [Term] id: HP:0000589 ! Coloboma intersection_of: PATO:0000609 ! closure incomplete intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0000602 ! Ophthalmoplegia intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in FMA:49033 ! Extra-ocular muscle [Term] id: HP:0004387 ! Enterocolitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:7199 ! Intestine [Term] id: HP:0000609 ! Optic nerve hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:50863 ! Optic nerve [Term] id: HP:0000656 ! Ectropion intersection_of: PATO:0001597 ! everted intersection_of: inheres_in FMA:54437 ! Eyelid ! This xp is identical to the one for HP:0000490 ! Deeply set eye ![Term] !id: HP:0000663 ! Enophthalmos !intersection_of: PATO:0001477 ! retracted !intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0000490 ! Deeply set eye intersection_of: PATO:0001477 ! retracted intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0000667 ! Phthisis bulbi intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0000778 ! Hypoplasia of the thymus intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9607 ! Thymus [Term] id: HP:0000790 ! Hematuria intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CL:0000232 ! erythrocyte [Term] id: HP:0000830 ! Hypopituitarism intersection_of: PATO:0000911 ! decreased rate intersection_of: has_central_participant FMA:13889 ! Pituitary gland intersection_of: inheres_in GO:0046903 ! secretion [Term] id: HP:0006285 ! Hypomineralization of enamel intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0070166 ! enamel mineralization [Term] id: HP:0003534 ! Reduced xanthine dehydrogenase activity intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0004854 ! xanthine dehydrogenase activity [Term] id: HP:0011032 ! Abnormality of fluid regulation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0050878 ! regulation of body fluids intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000845 ! Acromegaly intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in GO:0030252 ! growth hormone secretion [Term] id: HP:0000860 ! Parathyroid hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:13890 ! Parathyroid gland [Term] id: HP:0001010 ! Hypopigmentation of the skin intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:skin_pigmentation [Term] id: HP:0000961 ! Cyanosis intersection_of: PATO:0000319 ! cyan intersection_of: inheres_in FMA:7163 ! Skin ! maybe add skin roughness or skin erruption (but not always so....) [Term] id: HP:0000988 ! Skin rash intersection_of: PATO:0000322 ! red intersection_of: inheres_in_part_of FMA:7163 ! Skin [Term] id: HP:0000962 ! Hyperkeratosis intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:70596 ! Epidermis ! Commenting this out since in HPO photosensitivity refers to skin photosensitivity ! What about then id: HP:0000992 ! photosensitive skin? ![Term] !id: HP:0000992 ! photosensitivity !intersection_of: PATO:0000927 ! photosensitivity !intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0001083 ! Ectopia lentis intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in FMA:58241 ! Lens [Term] id: HP:0001089 ! Iris atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:58235 ! Iris [Term] id: HP:0001107 ! Ocular albinism intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in FMA:12513 ! Eyeball intersection_of: towards GO:0006582 ! melanin metabolic process [Term] id: HP:0000365 ! Hearing impairment intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0007605 ! sensory perception of sound [Term] id: HP:0001251 ! Ataxia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000590 ! ataxia [Term] id: HP:0001276 ! Hypertonia intersection_of: PATO:0001618 ! increased tonicity intersection_of: inheres_in FMA:5022 ! Muscle organ intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0000953 ! Hyperpigmentation of the skin intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in _:skin_pigmentation [Term] id: HP:0001513 ! Obesity intersection_of: PATO:0000582 ! increased weight intersection_of: inheres_in FMA:256135 ! Body intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0010458 ! female pseudohermaphroditism intersection_of: PATO:0001829 ! female pseudohermaphrodite intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0000037 ! male pseudohermaphroditism intersection_of: PATO:0001828 ! male pseudohermaphrodite intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0001824 ! weight loss intersection_of: PATO:0000583 ! decreased weight intersection_of: inheres_in FMA:256135 ! Body intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0001252 ! Muscular hypotonia intersection_of: PATO:0001619 ! decreased tonicity intersection_of: inheres_in FMA:5022 ! Muscle organ intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0006829 ! Severe muscular hypotonia intersection_of: PATO:0001619 ! decreased tonicity intersection_of: inheres_in FMA:5022 ! Muscle organ intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0003349 ! Low cholesterol esterification rates intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0034435 ! cholesterol esterification [Term] id: HP:0001332 ! Dystonia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000598 ! dystonia [Term] id: HP:0001402 ! Hepatocellular carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:357 ! hepatocellular carcinoma [Term] id: HP:0001408 ! Bile duct proliferation intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:9706 ! Bile duct [Term] id: HP:0001409 ! Portal hypertension intersection_of: PATO:0001576 ! increased pressure intersection_of: inheres_in_part_of FMA:50735 ! Hepatic portal vein intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0002904 ! Elevated levels of phytanic acid intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16990 ! bilirubin [Term] id: HP:0010571 ! Hyperbilirubinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CHEBI:16285 ! phytanic acid [Term] id: HP:0003146 ! Hypocholesterolemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CHEBI:16113 ! cholesterol intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0001410 ! Decreased liver function intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0005372 ! Abnormality of B cell physiology intersection_of: PATO:0001509 ! functionality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in CL:0000236 ! B cell [Term] id: HP:0011025 ! Abnormality of cardiovascular system physiology intersection_of: PATO:0001509 ! functionality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:7161 ! Cardiovascular system [Term] id: HP:0005365 ! Absent peripheral blood B cells intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards CL:0000236 ! B cell intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0005230 ! Biliary tract obstruction intersection_of: PATO:0000648 ! obstructed intersection_of: inheres_in FMA:79646 ! Biliary system [Term] id: HP:0006580 ! Mild portal fibrosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:66645 ! Portal vein intersection_of: towards MPATH:181 ! fibrosis [Term] id: HP:0001508 ! Failure to thrive intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0040007 ! growth [Term] id: HP:0001515 ! Prenatal growth deficiency intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0009790 ! embryonic development !!! merged_into HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0001635 ! Congestive heart failure intersection_of: PATO:0001570 ! having decreased processual parts intersection_of: towards GO:0060047 ! heart contraction [Term] id: HP:0001655 ! Patent foramen ovale intersection_of: PATO:0002112 ! perforate intersection_of: inheres_in FMA:7108 ! Interatrial septum ! we need to express the following: a congenital !condition whereby the aorta narrows in the area where the ductus !arteriosus (ligamentum arteriosum after regression) inserts. ![Term] !id: HP:0001680 ! Coarctation of aorta !intersection_of: PATO:0001847 ! constricted !intersection_of: inheres_in FMA:3734 ! Aorta [Term] id: HP:0004974 ! coarctation of abdominal aorta intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:3789 ! Abdominal aorta [Term] id: HP:0001700 ! Myocardial necrosis intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in _:cardiac_muscle_cell_death [Term] id: HP:0001701 ! Pericarditis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:9869 ! Pericardium [Term] id: HP:0100004 ! Pericardial mesothelioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:365 ! mesothelioma intersection_of: inheres_in FMA:9869 ! Pericardium intersection_of: qualifier PATO:0002097 ! malignant [Term] id: HP:0100001 ! Malignant mesothelioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:365 ! mesothelioma intersection_of: qualifier PATO:0002097 ! malignant [Term] id: HP:0001738 ! Exocrine pancreatic insufficiency intersection_of: PATO:0001628 ! insufficient intersection_of: inheres_in FMA:16017 ! Exocrine pancreas [Term] id: HP:0001747 ! Accessory spleen intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:7196 ! Spleen [Term] id: HP:0001789 ! Hydrops fetalis intersection_of: PATO:0001450 ! edematous intersection_of: inheres_in UBERON:0000922 ! embryo [Term] id: HP:0001909 ! Leukemia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:336 ! leukaemia [Term] id: HP:0001923 ! Reticulocytosis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards CL:0000558 ! reticulocyte [Term] id: HP:0001959 ! Polydipsia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000542 ! polydipsia [Term] id: HP:0001978 ! Extramedullary hematopoiesis intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in GO:0030097 ! hemopoiesis [Term] id: HP:0002039 ! Anorexia intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0032098 ! regulation of appetite intersection_of: qualifier PATO:0001863 ! chronic [Term] id: HP:0002014 ! Diarrhea intersection_of: PATO:0001548 ! quality of a liquid intersection_of: inheres_in FMA:64183 ! Feces ! I have requested a GO term for this (swallowing) ![Term] !id: HP:0002015 ! Dysphagia !intersection_of: PATO:0001624 ! decreased functionality !intersection_of: inheres_in GO:0043050 ! pharyngeal pumping [Term] id: HP:0002019 ! Constipation intersection_of: PATO:0000381 ! decreased frequency intersection_of: inheres_in GO:0030421 ! defecation [Term] id: HP:0002021 ! Pyloric stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:14579 ! Pyloric antrum [Term] id: HP:0002589 ! Gastrointestinal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract ! this is probably wrong ! ![Term] !id: HP:0002028 ! Chronic diarrhea !intersection_of: PATO:0001548 ! quality of a liquid !intersection_of: qualifier PATO:0001863 ! chronic !intersection_of: inheres_in FMA:64183 ! Feces [Term] id: HP:0006280 ! Chronic pancreatitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:214 ! chronic inflammation intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0005231 ! Chronic gastritis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:214 ! chronic inflammation intersection_of: inheres_in FMA:7148 ! Stomach [Term] id: HP:0100273 ! Neoplasia of the colon intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:14543 ! Colon intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0002240 ! Hepatomegaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0006568 ! Increased liver glycogen content intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:7197 ! Liver intersection_of: towards CHEBI:28087 ! glycogen [Term] id: HP:0002253 ! Colon diverticula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:14543 ! Colon intersection_of: towards MPATH:68 ! diverticulum [Term] id: HP:0005244 ! Gastrointestinal infarctions intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract intersection_of: towards MPATH:124 ! infarction [Term] id: HP:0002032 ! Esophageal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:7131 ! Esophagus [Term] id: HP:0002089 ! Pulmonary hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7195 ! Lung [Term] id: HP:0002092 ! Pulmonary hypertension intersection_of: PATO:0001576 ! increased pressure intersection_of: inheres_in FMA:83066 ! Portion of arterial blood intersection_of: inheres_in_part_of FMA:66326 ! Pulmonary artery intersection_of: qualifier PATO:0001863 ! chronic [Term] id: HP:0001663 ! ventricular fibrillation intersection_of: PATO:0000688 ! asynchronous intersection_of: inheres_in _:ventricle_cardiac_muscle_contraction [Term] id: HP:0100545 ! Arterial stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in MA:0000064 ! artery [Term] id: HP:0002150 ! Hypercalciuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:22984 ! calcium [Term] id: HP:0002206 ! Pulmonary fibrosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:7195 ! Lung intersection_of: towards MPATH:181 [Term] id: HP:0002239 ! Gastrointestinal hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in UBERON:0005409 ! gastrointestinal system intersection_of: towards MPATH:119 [Term] id: HP:0002247 ! Duodenal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:7206 ! Duodenum [Term] id: HP:0003765 ! psoriasis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:675 ! psoriasiform dermatitis [Term] id: HP:0010719 ! Abnormality of hair texture intersection_of: PATO:0000150 ! texture intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:53667 ! Hair [Term] id: HP:0002410 ! Aqueductal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:78467 ! Cerebral aqueduct [Term] id: HP:0001017 ! Anemic pallor intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000980 ! Pallor intersection_of: has_part HP:0001903 ! Anemia [Term] id: HP:0000825 ! Hyperinsulinemic hypoglycemia intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000842 ! Hyperinsulinemia intersection_of: has_part HP:0001943 ! Hypoglycemia [Term] id: HP:0003239 ! Phosphoethanolaminuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:36711 ! phosphoethanolamine [Term] id: HP:0006254 ! Elevated alpha-fetoprotein intersection_of: PATO:0001162 ! increased concentration intersection_of: towards PR:000003809 ! alpha-fetoprotein [Term] id: HP:0003648 ! Lacticaciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:28358 ! lactic acid [Term] id: HP:0010934 ! Xanthinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:15318 ! xanthine [Term] id: HP:0002152 ! Hyperproteinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:36080 ! protein [Term] id: HP:0001941 ! Acidosis intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:37527 ! acid [Term] id: HP:0003134 ! Abnormality of peripheral nerve conduction intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:motor_and_sensory_nerve_conduction intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: _:motor_and_sensory_nerve intersection_of: FMA:7157 ! Nervous system intersection_of: has_part FMA:5867 ! Motor nerve intersection_of: has_part FMA:5868 ! Sensory nerve [Term] id: HP:0100867 ! Duodenal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:7206 ! Duodenum [Term] id: HP:0002446 ! Astrocytosis intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in _:astrocyte_cell_growth ! I need to fix this by creating two anonymus terms since HPO does not have these... [Term] id: HP:0002575 ! Tracheoesophageal fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7131 ! Esophagus intersection_of: inheres_in FMA:7394 ! Trachea intersection_of: towards MPATH:70 ! fistula [Term] id: HP:0002588 ! Duodenal ulcer intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:579 ! ulcer intersection_of: inheres_in FMA:7206 ! Duodenum [Term] id: HP:0002591 ! Polyphagia intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in NBO:0000063 ! eating behaviour intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0000166 ! Severe periodontitis intersection_of: HP:0000165 ! periodontitis intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0002592 ! Gastric ulcer intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:579 ! ulcer intersection_of: inheres_in FMA:14907 ! Mucosa of stomach [Term] id: HP:0004398 ! 0004398 intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:579 ! ulcer intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract [Term] id: HP:0001031 ! Subcutaneous lipoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:417 ! lipoma intersection_of: inheres_in FMA:9630 ! Superficial fascia [Term] id: HP:0001012 ! Lipomas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:417 ! lipoma [Term] id: HP:0002605 ! Hepatic necrosis intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in _:liver_cell_death [Term] id: HP:0001395 ! Hepatic fibrosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:181 ! fibrosis intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0006685 ! Endocardial fibrosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:181 ! fibrosis intersection_of: inheres_in FMA:7280 ! Endocardium [Term] id: HP:0001405 ! Periportal fibrosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:181 ! fibrosis intersection_of: inheres_in FMA:17525 ! Interlobular stroma of liver [Term] id: HP:0002612 ! Congenital hepatic fibrosis intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001395 ! Hepatic fibrosis intersection_of: has_part HP:0003577 ! congenital onset [Term] id: HP:0002634 ! Arteriosclerosis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:50720 ! Artery intersection_of: towards MPATH:184 [Term] id: HP:0008711 ! Benign prostatic hyperplasia intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:9600 ! Prostate [Term] id: HP:0006282 ! Generalized hypoplasia of dental enamel intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:55629 ! Enamel intersection_of: qualifier PATO:0001566 ! distributed [Term] id: HP:0011074 ! Localized hypoplasia of dental enamel intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:55629 ! Enamel intersection_of: qualifier PATO:0000627 ! localised [Term] id: HP:0008239 ! Adrenal medullary hypoplasia intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:15633 ! Adrenal medulla [Term] id: HP:0002716 ! Lymphadenopathy intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:30315 ! Lymphatic vessel [Term] id: HP:0004608 ! Lymphadenopathy intersection_of: PATO:0001921 ! Anterior mislocalized intersection_of: inheres_in FMA:24043 ! Dens of axis [Term] id: HP:0007397 ! Axillary apocrine gland hypoplasia intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:59155 ! Apocrine sweat gland intersection_of: inheres_in_part_of FMA:24864 ! Axilla [Term] id: HP:0002789 ! Tachypnea intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in GO:0007585 ! respiratory gaseous exchange intersection_of: qualifier PATO:0000396 ! severe [Term] id: HP:0002179 ! opisthotonus intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000586 ! opisthotonus [Term] id: HP:0003381 ! demyelination intersection_of: PATO:0002001 ! having decreased physical parts intersection_of: towards GO:0043209 ! myelin sheath !!! merged_into HP:0011096 ! Peripheral demyelination [Term] id: HP:0002900 ! Hypokalemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26216 ! potassium ! ultimate goal to have something like positively regulates --> increased concentration [Term] id: HP:0008335 ! Renal aminoaciduria intersection_of: HP:0000082 ! Abnormality of renal physiology intersection_of: results_in HP:0003355 ! Aminoaciduria [Term] id: HP:0001400 ! Hepatic abscesses due to immunodeficiency intersection_of: HP:0002721 ! Immunodeficiency intersection_of: results_in HP:0100523 ! Liver abscess ![Term] !id: _:hyperplastic_renal_artery !is_anonymous: true !intersection_of: PATO:0000644 ! hyperplastic !intersection_of: inheres_in FMA:14751 ! renal artery [Term] id: HP:0003131 ! Cystinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:17376 ! cystine [Term] id: HP:0100519 ! anuria intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0060073 ! micturition [Term] id: HP:0003361 ! Tryptophanuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:27897 ! tryptophan [Term] id: HP:0002905 ! Hyperphosphatemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26020 ! phosphates [Term] id: HP:0002913 ! Myoglobinuria intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:7044 ! myoglobin [Term] id: HP:0003006 ! Neuroblastoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:376 ! neuroblastoma [Term] id: HP:0002665 ! Lymphoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:343 ! lymphoma [Term] id: HP:0002671 ! Basal cell carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:234 ! basal cell carcinoma [Term] id: HP:0002885 ! Medulloblastoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:250 ! medulloblastoma [Term] id: HP:0002893 ! Pituitary adenoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:270 intersection_of: inheres_in FMA:13889 ! Pituitary gland [Term] id: HP:0002897 ! Parathyroid adenoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:270 ! adenoma intersection_of: inheres_in_part_of FMA:13890 ! Parathyroid gland [Term] id: HP:0006735 ! Renal cortical adenoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:270 ! adenoma intersection_of: inheres_in_part_of FMA:15581 ! Cortex of kidney [Term] id: HP:0003031 ! Ulnar bowing intersection_of: PATO:0001592 ! increased curvature intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003074 ! Hyperglycemia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17234 ! glucose [Term] id: HP:0003075 ! Hypoproteinemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16541 ! Protein ![Term] !id: HP:0010686 ! Low alkaline phosphatase of hepatic origin !intersection_of: PATO:0001163 ! decreased concentration !intersection_of: inheres_in FMA:9670 ! Portion of blood !intersection_of: towards PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme [Term] id: HP:0003077 ! Hyperlipidemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:18059 ! lipids [Term] id: HP:0003109 ! Hyperphosphaturia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:26020 ! phosphates [Term] id: HP:0003127 ! Hypocalciuria intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:22984 ! calcium [Term] id: HP:0003563 ! Hypobetalipoproteinemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CHEBI:39026 ! low-density lipoprotein intersection_of: inheres_in FMA:9670 ! Portion of blood ! duplicate XP-def for the following two terms! [Term] id: HP:0003218 ! Oroticaciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:16742 ! orotic acid ![Term] !id: HP:0003526 ! Orotic acid crystalluria !intersection_of: PATO:0001162 ! increased concentration !intersection_of: inheres_in FMA:12274 ! urine !intersection_of: towards CHEBI:16742 ! orotic acid [Term] id: HP:0003207 ! Arterial calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:50720 ! Artery [Term] id: HP:0003641 ! Hemoglobinuria intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:35143 ! hemoglobin [Term] id: HP:0200023 ! priapism intersection_of: PATO:0000498 ! prolonged period intersection_of: inheres_in GO:0043084 ! penile erection [Term] id: HP:0003865 ! Bowed humerus intersection_of: PATO:0001592 ! increased curvature intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0004380 ! Aortic valve calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:7236 ! Aortic valve [Term] id: HP:0008339 ! Diaminoaciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:35987 ! diaminoacid [Term] id: HP:0003297 ! Hyperlysinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:25094 ! lysine [Term] id: HP:0004382 ! Mitral valve calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:7235 ! Mitral valve [Term] id: HP:0001653 ! mitral valve regurgitation intersection_of: PATO:0001628 ! insufficient intersection_of: inheres_in FMA:7235 ! Mitral valve [Term] id: HP:0001659 ! Aortic insufficiency intersection_of: PATO:0001628 ! insufficient intersection_of: inheres_in FMA:7236 ! Aortic valve [Term] id: HP:0005219 ! Absence of intrinsic factor by immunoassay of gastric juices intersection_of: PATO:0002000 ! lacking physical part intersection_of: towards PR:000007975 ! gastric intrinsic factor ![Term] !id: HP:0002251 ! aganglionic megacolon !intersection_of: PATO:0002000 ! lacking physical part !intersection_of: inheres_in FMA:14543 ! Colon !intersection_of: towards FMA:5884 ! Ganglion [Term] id: HP:0009748 ! Large earlobe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:60984 ! Lobule of pinna ! I need to look at these... ![Term] !id: HP:0004792 ! rectoperineal fistula !intersection_of: MPATH:70 ! fistula !intersection_of: inheres_in FMA:14544 ! Rectum !intersection_of: towards FMA:9579 ! Perineum [Term] id: HP:0005224 ! Rectal abscess intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:608 ! abscess intersection_of: inheres_in FMA:14544 ! Rectum [Term] id: HP:0010771 ! Pilonidal abscess intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:608 ! abscess intersection_of: inheres_in FMA:20234 ! Intergluteal cleft [Term] id: HP:0005207 ! Gastric hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:7148 ! Stomach ! I need to look at these... ![Term] !id: HP:0005218 ! anoperineal fistula !intersection_of: MPATH:70 !intersection_of: inheres_in FMA:15711 ! Anus !intersection_of: towards FMA:9579 ! Perineum [Term] id: HP:0000664 ! Synophrys intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:54239 ! Left eyebrow intersection_of: towards FMA:54238 ! Right eyebrow [Term] id: HP:0005473 ! Fusion of middle ear ossicles intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:52750 ! Auditory ossicle intersection_of: towards FMA:52750 ! Auditory ossicle [Term] id: HP:0004452 ! Abnormality of the middle ear ossicles intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:52750 ! Auditory ossicle [Term] id: HP:0004370 ! Abnormality of temperature regulation intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0001659 ! temperature homeostasis [Term] id: HP:0010974 ! Abnormality of myeloid leukocytes intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in CL:0000766 ! myeloid leukocytes [Term] id: HP:0005466 ! Hypoplastic frontal bones intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:52734 ! Frontal bone [Term] id: HP:0000921 ! Missing ribs intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards FMA:7574 ! Rib [Term] id: HP:0005584 ! Renal cell carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:549 ! carcinoma intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0006780 ! Parathyroid carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:549 ! carcinoma intersection_of: inheres_in_part_of FMA:13890 ! Parathyroid gland [Term] id: HP:0006744 ! Adrenocortical carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:15632 ! Adrenal cortex intersection_of: towards MPATH:549 ! carcinoma [Term] id: HP:0100641 ! Cortical adrenal neoplasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:15632 ! Adrenal cortex intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0100642 ! Medullar adrenal neoplasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:15633 ! Adrenal medulla intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0006748 ! Adrenal pheochromocytoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:15633 ! Adrenal medulla intersection_of: towards MPATH:377 ! pheochromocytoma [Term] id: HP:0006766 ! Papillary renal cell carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:549 ! carcinoma intersection_of: inheres_in FMA:15622 ! Renal papilla [Term] id: HP:0006762 ! Renal pelvic carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:549 ! carcinoma intersection_of: inheres_in FMA:15575 ! Renal pelvis [Term] id: HP:0006740 ! Transitional cell carcinoma of the bladder intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:451 ! transitional cell carcinoma intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0006774 ! Ovarian papillary adenocarcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:295 ! papillary adenocarcinoma intersection_of: inheres_in FMA:7209 ! Ovary [Term] id: HP:0100592 ! Peritoneal abscess intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:608 ! abscess intersection_of: inheres_in FMA:9584 ! Peritoneum [Term] id: HP:0002895 ! Papillary thyroid carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:295 ! papillary adenocarcinoma intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0000854 ! Thyroid adenoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:270 ! adenoma intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0002860 ! Squamous cell carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:446 ! squamous cell carcinoma [Term] id: HP:0010787 ! Genital neoplasm intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:7160 ! Genital system [Term] id: HP:0009725 ! Bladder neoplasm intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0100031 ! Neoplasm of the thyroid gland intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:218 ! neoplasm intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0009715 ! Papillary cystadenoma of the epididymis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:298 ! papillary cystadenoma intersection_of: inheres_in FMA:18255 ! Epididymis [Term] id: HP:0100517 ! Neoplasm of the urethra intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:298 ! papillary cystadenoma intersection_of: inheres_in FMA:19667 ! Urethra [Term] id: HP:0002862 ! Bladder carcinoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:549 ! carcinoma intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0007703 ! Abnormal retinal pigmentation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:retinal_pigmentation intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0002101 ! Abnormal lung lobation !intersection_of: PATO:0000001 ! quality !intersection_of: inheres_in FMA:7311 ! Lobe of lung !intersection_of: qualifier PATO:0000460 ! abnormal ! This def is probably better [Term] id: HP:0002101 ! Abnormal lung lobation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0060464 ! lung lobe formation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007807 ! Optic nerve compression intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:50863 ! Optic nerve [Term] id: HP:0007862 ! Retinal calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0008034 ! Abnormal iris pigmentation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:iris_pigmentation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008070 ! Sparse hair intersection_of: PATO:0001609 ! sparse intersection_of: inheres_in FMA:53667 ! Hair [Term] id: HP:0008221 ! Enlarged adrenal glands intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9604 ! Adrenal gland [Term] id: HP:0000835 ! Adrenal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9604 ! Adrenal gland [Term] id: HP:0004915 ! Impairment of galactose metabolism intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0006012 ! galactose metabolic process [Term] id: HP:0004935 ! Pulmonary artery atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:66326 ! Pulmonary artery [Term] id: HP:0005242 ! Extrahepatic biliary duct atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:14678 ! Extrahepatic bile duct [Term] id: HP:0004953 ! Abdominal aortic aneurysm intersection_of: HP:0004942 ! Aortic aneurysms intersection_of: inheres_in FMA:9577 ! Abdomen [Term] id: HP:0004960 ! absent pulmonary artery intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:66326 ! Pulmonary artery [Term] id: HP:0004969 ! peripheral pulmonary artery stenosis intersection_of: HP:0004415 ! Pulmonary artery stenosis intersection_of: inheres_in FMA:74552 ! Peripheral [Term] id: HP:0004981 ! prominent ulnar styloid process intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:23628 ! Styloid process of ulna [Term] id: HP:0005090 ! lateral femoral bowing intersection_of: HP:0002980 ! Femoral bowing intersection_of: inheres_in FMA:30332 ! Lateral [Term] id: HP:0005096 ! Distal femoral bowing intersection_of: HP:0002980 ! Femoral bowing intersection_of: inheres_in FMA:30327 ! Distal [Term] id: HP:0005104 ! Hypoplastic nasal septum intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:54375 ! Nasal septum [Term] id: HP:0005134 ! Absence of the pulmonary valve intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:7246 ! Pulmonary valve [Term] id: HP:0005145 ! Coronary artery stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:49893 ! Coronary artery [Term] id: HP:0005152 ! Oncocytic cardiomyopathy intersection_of: HP:0001638 ! Cardiomyopathy intersection_of: inheres_in FMA:67606 ! Oncocyte [Term] id: HP:0005156 ! Hypoplastic left atrium intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7097 ! Left atrium [Term] id: HP:0005164 ! Dysplastic pulmonary valve intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:7246 ! Pulmonary valve [Term] id: HP:0002164 ! Nail dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0005176 ! Dysplastic aortic valve intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:7236 ! Aortic valve [Term] id: HP:0005199 ! Aplasia of the abdominal wall musculature intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:86917 ! Musculature of abdomen [Term] id: HP:0005210 ! Colon hypoplastic intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:14543 ! Colon [Term] id: HP:0005211 ! Midgut malrotation intersection_of: PATO:0001599 ! rotated intersection_of: inheres_in FMA:45617 ! Midgut intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005223 ! Duplicated colon intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:14543 ! Colon [Term] id: HP:0005225 ! Intestinal edema intersection_of: PATO:0001450 ! edematous intersection_of: inheres_in FMA:7199 ! Intestine [Term] id: HP:0005214 ! Intestinal obstruction intersection_of: PATO:0000648 ! obstructed intersection_of: inheres_in FMA:7199 ! Intestine [Term] id: HP:0005266 ! Intestinal polyps intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:62 ! cyst intersection_of: inheres_in FMA:7199 ! Intestine [Term] id: HP:0005233 ! Hypoplasia of the gallbladder intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7202 ! Gallbladder [Term] id: HP:0005245 ! Intestinal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7199 ! Intestine [Term] id: HP:0005274 ! Prominent nasal tip intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:59518 ! Tip of nose [Term] id: HP:0005278 ! Hypoplastic nasal tip intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:59518 ! Tip of nose [Term] id: HP:0005304 ! Hypoplastic pulmonary veins intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:66643 ! Pulmonary vein [Term] id: HP:0005306 ! Capillary hemangiomas intersection_of: HP:0001028 ! Hemangiomas intersection_of: inheres_in FMA:63194 ! Capillary [Term] id: HP:0005322 ! Prominent nasal septum intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:54375 ! Nasal septum [Term] id: HP:0005326 ! Hypoplastic philtrum intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:59819 ! Philtrum [Term] id: HP:0005336 ! Forehead hyperpigmentation intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:forehead_pigmentation [Term] id: HP:0005343 ! Hypoplasia of the bladder intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0005347 ! Cartilaginous trachea intersection_of: PATO:0001449 ! cartilaginous intersection_of: inheres_in FMA:7394 ! Trachea [Term] id: HP:0002721 ! Immunodeficiency intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0006955 ! immune response [Term] id: HP:0005374 ! Cellular immunodeficiency intersection_of: HP:0002721 ! Immunodeficiency intersection_of: inheres_in GO:0005623 ! cell [Term] id: HP:0011017 ! Abnormality of cell physiology intersection_of: PATO:0001509 ! functionality intersection_of: inheres_in GO:0005623 ! cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005472 ! Orbital craniosynostosis intersection_of: HP:0001363 ! Craniosynostosis intersection_of: inheres_in FMA:53074 ! Orbit [Term] id: HP:0005479 ! Decreased IgE intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards FMA:62875 ! Immunoglobulin E intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0005549 ! Congenital neutropenia intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001875 ! Neutropenia intersection_of: has_part HP:0003577 ! congenital onset [Term] id: HP:0005632 ! Absent forearm intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:9663 ! Forearm [Term] id: HP:0005684 ! Distal arthrogryposis intersection_of: HP:0002804 ! Arthrogryposis multiplex congenita intersection_of: inheres_in FMA:30327 ! Distal [Term] id: HP:0009611 ! bifid distal phalanx of the thumb intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009630 ! Broad proximal phalanx of the thumb intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0010809 ! Broad uvula intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:55022 ! Uvula [Term] id: HP:0010810 ! Long uvula intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:55022 ! Uvula [Term] id: HP:0009632 ! Curved proximal phalanx of the thumb intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0009644 ! Curved distal phalanx of the thumb intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009649 ! Aplasia of the distal phalanx of the thumb intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009910 ! Aplasia of the middle ear ossicles intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:52750 ! Auditory ossicle [Term] id: HP:0009606 ! duplicated distal phalanx of the thumb intersection_of: PATO:0001473 ! duplicated intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009612 ! Partial/complete duplication of the distal phalanx of the thumb union_of: HP:0009606 ! duplicated distal phalanx of the thumb union_of: HP:0009611 ! bifid distal phalanx of thumb [Term] id: HP:0007147 ! Urinary or fecal incontinence union_of: HP:0000020 ! Urinary incontinence union_of: HP:0002607 ! Bowel incontinence [Term] id: HP:0009645 ! Osteolytic defects of the distal phalanx of the thumb intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009643 ! Bullet-shaped distal phalanx of the thumb intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0100912 ! Sclerosis of the distal phalanx of the thumb intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009646 ! Patchy sclerosis of the distal phalanx of the thumb intersection_of: HP:0100912 ! Sclerosis of the distal phalanx of the thumb intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0005836 ! Dislocated radius intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0010452 ! Ectopia of the spleen intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in FMA:7196 ! Spleen [Term] id: HP:0005912 ! Biliary duct atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:9706 ! Bile duct [Term] id: HP:0004122 ! Midline defect of the nose intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:46472 ! Nose !This is now a related synonym in HPO tp bifid nose ![Term] !id: HP:0004122 ! Midline defect of the nose !union_of: HP:0004112 ! Midline nasal groove !union_of: HP:0004132 ! Dimple on nasal tip !union_of: HP:0000456 ! Bifid nasal tip [Term] id: HP:0005917 ! Supernumerary metacarpal bones intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:9612 ! Metacarpal bone [Term] id: HP:0005954 ! Pulmonary capillary hemangiomatosis intersection_of: HP:0007461 ! Hemangiomatosis intersection_of: inheres_in FMA:14121 ! Pulmonary capillary [Term] id: HP:0005959 ! Impaired gluconeogenesis intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0006094 ! gluconeogenesis [Term] id: HP:0011033 ! Impairment of fructose metabolism intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0006000 ! fructose metabolic process [Term] id: HP:0003353 ! Propionyl-CoA carboxylase deficiency intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0004658 ! propionyl-CoA carboxylase activity [Term] id: HP:0003655 ! Reduced activity of N-acetylglucosaminyltransferase II intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0008455 ! alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity [Term] id: HP:0011040 ! Abnormality of the intrahepatic bile duct intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:15766 ! Intrahepatic bile duct intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010902 ! Abnormality of glutamine family amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0009064 ! glutamine family amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001954 ! Fever, episodic intersection_of: PATO:0000690 ! discontinuous intersection_of: inheres_in GO:0001660 ! fever [Term] id: HP:0009193 ! Pseudoepiphyses of the metacarpals intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in FMA:75436 ! Ossification center intersection_of: inheres_in_part_of FMA:9612 ! Metacarpal bone [Term] id: HP:0000287 ! Normal or increased facial adipose tissue intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in_part_of FMA:24728 ! Face intersection_of: inheres_in FMA:20110 ! Adipose tissue [Term] id: HP:0006059 ! Cone-shaped metacarpal epiphyses intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0004239 ! Proximally placed carpal bones intersection_of: PATO:0002179 ! mislocalised proximally intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones union_of: HP:0001498 ! Carpal bone hypoplasia union_of: HP:0006084 ! aplastic carpal bone ![Term] !id: HP:0006089 ! Palmar hyperhidrosis !intersection_of: HP:0000975 ! Hyperhidrosis !intersection_of: inheres_in FMA:74557 ! Palmar [Term] id: HP:0006106 ! Absent trapezoid bone intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:23724 ! Trapezoid ! TODO fix ![Term] !id: HP:0006145 ! central y-shaped metacarpal !intersection_of: HP:0006042 ! y-shaped metacarpals !intersection_of: inheres_in FMA:30328 ! central [Term] id: HP:0006151 ! Thumb brachydactyly intersection_of: HP:0001156 ! Brachydactyly intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0006163 ! Enlarged metacarpophalangeal joints intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:35246 ! Metacarpophalangeal joint [Term] id: HP:0006166 ! Tubular metacarpal bones intersection_of: PATO:0001873 ! cylindrical intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0001873 ! Thrombocytopenia intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards CL:0000233 ! platelet [Term] id: HP:0001875 ! Neutropenia intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards CL:0000775 ! neutrophil [Term] id: HP:0001903 ! Anemia intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:erytrhocyte_oxygen_transport [Term] id: HP:0006167 ! Prominent proximal interphalangeal joints intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint [Term] id: HP:0009899 ! Abnormal prominence of the crus of the ear intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:61024 ! Crus of helical part of auricular cartilage [Term] id: HP:0006180 ! Crowded carpal bones intersection_of: PATO:0000619 ! crowded intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0006185 ! Enlarged proximal interphalangeal joints intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint [Term] id: HP:0006233 ! Osteoarthritis of the distal interphalangeal joint intersection_of: HP:0002758 ! Osteoarthritis intersection_of: inheres_in FMA:65024 ! Distal interphalangeal joint [Term] id: HP:0006237 ! Prominent interphalangeal joints intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:42765 ! Interphalangeal joint [Term] id: HP:0006247 ! Enlarged interphalangeal joints intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:42765 ! Interphalangeal joint [Term] id: HP:0006270 ! Hypoplastic spleen intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7196 ! Spleen [Term] id: HP:0001746 ! Asplenia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:7196 ! Spleen [Term] id: HP:0001593 ! Maxillary lateral incisor microdontia intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:23020 ! Skin of back of neck [Term] id: HP:0006334 ! Hypoplasia of the primary teeth intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:75151 ! Primary dentition [Term] id: HP:0006349 ! Agenesis of permanent teeth intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:75152 ! Secondary dentition [Term] id: HP:0006466 ! Contractures of the ankles intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:9665 ! Ankle [Term] id: HP:0006446 ! Dysplastic patella intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:24485 ! Patella [Term] id: HP:0006463 ! Rickets of the lower limbs intersection_of: HP:0002748 ! Rickets intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0006612 ! Clavicle pseudoarthrosis intersection_of: HP:0005864 ! Pseudoarthrosis intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: HP:0006681 ! Absent atrioventricular node intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:9478 ! Atrioventricular node [Term] id: HP:0006739 ! Squamous cell carcinoma of the skin intersection_of: HP:0002860 ! Squamous cell carcinoma intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0006789 ! Mitochondrial encephalopathy intersection_of: HP:0001298 ! Encephalopathy intersection_of: inheres_in GO:0005739 ! mitochondrion [Term] id: HP:0006805 ! Large corpus callosum intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0011081 ! Incisor macrodontia intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:12823 ! Incisor tooth [Term] id: HP:0003029 ! Enlargement of the ankles intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9665 ! Ankle [Term] id: HP:0006808 ! Cerebral hypomyelination intersection_of: HP:0003429 ! Hypomyelination intersection_of: inheres_in_part_of FMA:50801 ! Brain [Term] id: HP:0006891 ! Thick cerebral cortex intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:61830 ! Cerebral cortex [Term] id: HP:0006895 ! Lower limb hypertonia intersection_of: HP:0001276 ! Hypertonia intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0006960 ! Choroid plexus calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:61934 ! Choroid plexus of cerebral hemisphere [Term] id: HP:0010512 ! Adrenal calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:9604 ! Adrenal gland [Term] id: HP:0006986 ! Upper limb spasticity intersection_of: HP:0001257 ! Spasticity intersection_of: inheres_in FMA:7183 ! Upper limb [Term] id: HP:0006989 ! Dysplastic corpus callosum intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0007009 ! Central nervous system degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:55675 ! Neuraxis [Term] id: HP:0007048 ! Large basal ganglia intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:62514 ! Basal ganglion of telencephalon [Term] id: HP:0007289 ! Limb fasciculations intersection_of: HP:0002380 ! Fasciculations intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0007074 ! Thick corpus callosum intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0002380 ! Fasciculations intersection_of: PATO:0001861 ! fasciculated intersection_of: inheres_in FMA:5022 ! Muscle organ ![Term] !id: HP:0006956 ! Enlarged lateral ventricles !intersection_of: PATO:0000586 ! increased size !intersection_of: inheres_in FMA:78448 ! Lateral ventricle [Term] id: HP:0001744 ! Splenomegaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7196 ! Spleen [Term] id: HP:0003390 ! Sensory axonal neuropathy intersection_of: HP:0000763 ! Sensory neuropathy intersection_of: inheres_in GO:0030424 ! axon [Term] id: HP:0000763 ! Sensory neuropathy intersection_of: PATO:0001167 ! damaged intersection_of: inheres_in FMA:5868 ! Sensory nerve [Term] id: HP:0007266 ! Cerebral dysmyelination intersection_of: HP:0003469 ! Dysmyelination intersection_of: inheres_in FMA:50801 ! Brain [Term] id: HP:0007333 ! Hypoplasia of the frontal lobes intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:61824 ! Frontal lobe [Term] id: HP:0007351 ! Upper limb postural tremor intersection_of: HP:0002174 ! Postural tremor intersection_of: inheres_in FMA:7183 ! Upper limb [Term] id: HP:0007387 ! Hypoplastic sweat glands intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:59152 ! Sweat gland [Term] id: HP:0007413 ! Nevus flammeus of the forehead intersection_of: HP:0001052 ! Nevus flammeus intersection_of: inheres_in FMA:63864 ! Forehead [Term] id: HP:0007515 ! Hypoplastic pilosebaceous units intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:70661 ! Pilosebaceous unit [Term] id: HP:0007521 ! Irregular hyperpigmentation of back intersection_of: HP:0007400 ! Irregular hyperpigmentation intersection_of: inheres_in FMA:10462 ! Skin of back [Term] id: HP:0000992 ! Photosensitivity intersection_of: PATO:0000547 ! photosensitive intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0007543 ! Epidermal hyperkeratosis intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:67545 ! Horny layer of epidermis ![Term] !id: HP:0007556 ! Plantar hyperkeratosis !intersection_of: HP:0000962 ! Hyperkeratosis !intersection_of: inheres_in FMA:74560 ! Plantar [Term] id: HP:0007385 ! Aplasia cutis congenita of scalp intersection_of: HP:0001057 ! Aplasia cutis congenita intersection_of: inheres_in FMA:46494 ! Scalp ! todo: check this [Term] id: HP:0007576 ! Palmar neurofibromas intersection_of: HP:0001067 ! Neurofibromas intersection_of: inheres_in FMA:44836 ! Palmar branch of median nerve [Term] id: HP:0007678 ! Nasolacrimal duct stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:9703 ! Nasolacrimal duct [Term] id: HP:0007697 ! Hypoplastic lower eyelids intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:54442 ! Lower eyelid [Term] id: HP:0007732 ! Hypoplastic lacrimal gland intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:59101 ! Lacrimal gland [Term] id: HP:0007734 ! Enlarged lacrimal glands intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:59101 ! Lacrimal gland ![Term] !id: HP:0007769 ! peripheral retinal degeneration !intersection_of: HP:0000546 ! retinal degeneration !intersection_of: inheres_in FMA:74552 ! peripheral [Term] id: HP:0007886 ! Absent ocular muscles intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:49149 ! Ocular muscle [Term] id: HP:0007900 ! Hypoplastic lacrimal duct intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:61063 ! Lacrimal duct ![Term] !id: HP:0007936 ! Restrictive external ophthalmoplegia !intersection_of: HP:0007846 ! Restrictive ophthalmoplegia !intersection_of: inheres_in FMA:74548 ! External ! TODO: check [Term] id: HP:0007942 ! Internal ophthalmoplegia intersection_of: HP:0000602 ! Ophthalmoplegia intersection_of: inheres_in FMA:49151 ! Ciliary muscle [Term] id: HP:0007973 ! Retinal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0007980 ! Absent retinal pigment epithelium intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:58627 ! Pigmented layer of retina [Term] id: HP:0000496 ! Abnormality of eye movement intersection_of: PATO:0000001 ! quality intersection_of: inheres_in NBO:0000444 ! eye movement intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0000521 ! Abnormality of tear glands or tear production !intersection_of: PATO:0000001 ! quality !intersection_of: inheres_in FMA:59101 ! Lacrimal gland !intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002024 ! Malabsorption intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0050892 ! intestinal absorption intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001291 ! Abnormality of the cranial nerves intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:5865 ! Cranial nerve intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0006824 ! cranial nerve palsies !intersection_of: PATO:0000763 ! paralysed !intersection_of: inheres_in FMA:5865 ! Cranial nerve [Term] id: HP:0006897 ! Cranial nerve VI palsy intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in_part_of FMA:50867 ! Abducens nerve [Term] id: HP:0007011 ! Fourth cranial nerve palsy intersection_of: PATO:0000763 ! paralysed intersection_of: inheres_in_part_of FMA:50865 ! Trochlear nerve [Term] id: HP:0000707 ! Abnormality of the nervous system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7157 ! Nervous system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006799 ! Basal ganglia cysts intersection_of: PATO:0001673 ! cystic intersection_of: inheres_in FMA:62514 ! Basal ganglion of telencephalon [Term] id: HP:0002135 ! Basal ganglia calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:62514 ! Basal ganglion of telencephalon ! commented out due to email from nick 15/3/2011 ![Term] !id: HP:0002134 ! Structural abnormalities in the basal ganglia !intersection_of: PATO:0000141 ! structure !intersection_of: inheres_in_part_of FMA:62514 ! Basal ganglion of telencephalon !intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006999 ! Basal ganglia gliosis intersection_of: HP:0002171 ! Gliosis intersection_of: inheres_in_part_of FMA:62514 ! Basal ganglion of telencephalon [Term] id: HP:0002060 ! Abnormality of the cerebrum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:62000 ! Telencephalon intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:62000 ! Telencephalon [Term] id: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:62000 ! Telencephalon [Term] id: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:55675 ! Neuraxis [Term] id: HP:0100251 ! Lipomas of the central neryous system intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:417 ! lipoma intersection_of: inheres_in FMA:55675 ! Neuraxis [Term] id: HP:0007541 ! Frontal cutaneous lipoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:417 ! lipoma intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0006773 ! Cutaneous angiolipomas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:707 ! angiolipoma [Term] id: HP:0010576 ! Cystic malformations affecting the central nervous system intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:55675 ! Neuraxis intersection_of: towards MPATH:62 ! cyst [Term] id: HP:0001322 ! Brain very small intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:50801 ! Brain [Term] id: HP:0000169 ! Gingival fibromatosis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:59762 ! Gingiva intersection_of: towards MPATH:407 ! Fibroma [Term] id: HP:0000648 ! Optic atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:50863 ! Optic nerve ! we have requested a term from FMA for cerbral ventricle [Term] id: HP:0000238 ! Hydrocephalus intersection_of: PATO:0000595 ! increased volume intersection_of: inheres_in _:CSF_in_brain_ventricle [Term] id: HP:0002334 ! Abnormality of the cerebellar vermis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:76928 ! Vermis of cerebellum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002461 ! Dense calcifications in the cerebellar dentate nucleus intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:72260 ! Dentate nucleus [Term] id: HP:0007352 ! Cerebellar calcifications intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0001561 ! Polyhydramnios intersection_of: PATO:0000595 ! increased volume intersection_of: inheres_in UBERON:0000173 ! amniotic fluid intersection_of: during GO:0007565 ! female pregnacy [Term] id: HP:0007990 ! Hypoplastic iris stroma intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:58526 ! Stroma of iris [Term] id: HP:0002340 ! Caudate atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:61833 ! Caudate nucleus ! also consider: HP:0002415 ! leukodystrophy [Term] id: HP:0002352 ! Leukoencephalopathy intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:241998 ! Cerebral white matter [Term] id: HP:0007341 ! Diffuse swelling of cerebral white matter intersection_of: PATO:0001851 ! swollen intersection_of: inheres_in FMA:241998 ! Cerebral white matter ! TODO: def too general? [Term] id: HP:0002528 ! Granulovacuolar degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:62493 ! Hippocampus [Term] id: HP:0007190 ! Neuronal loss in the cerebral cortex intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: inheres_in FMA:61830 ! Cerebral cortex intersection_of: towards FMA:54527 ! Neuron [Term] id: HP:0001626 ! Abnormality of the cardiovascular system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7161 ! Cardiovascular system intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0000597 ! Ophthalmoparesis !intersection_of: HP:0003470 ! Paralysis !intersection_of: inheres_in FMA:49033 ! Extra-ocular muscle [Term] id: HP:0008047 ! Abnormality of the vasculature of the eye intersection_of: HP:0002597 ! Abnormality of the vasculature intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0008054 ! Abnormality of the vasculature of the conjunctiva intersection_of: HP:0002597 ! Abnormality of the vasculature intersection_of: inheres_in FMA:59011 ! Conjunctiva [Term] id: HP:0006956 ! Dilation of lateral ventricles intersection_of: PATO:0001571 ! dilated intersection_of: inheres_in FMA:78448 ! Lateral ventricle [Term] id: HP:0010955 ! Dilatation of the bladder intersection_of: PATO:0001571 ! dilated intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0010980 ! Hyperlipoproteinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:50404 ! lipoprotein cholesterol ![Term] !id: HP:0010638 ! Elevated alkaline phosphatase of hepatic origin !intersection_of: PATO:0001162 ! increased concentration !intersection_of: inheres_in FMA:9670 ! Portion of blood !intersection_of: towards PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme ! ![Term] !id: HP:0010684 ! Low alkaline phosphatase of bone origin !intersection_of: PATO:0001163 ! decreased concentration !intersection_of: inheres_in FMA:9670 ! Portion of blood !intersection_of: towards PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme [Term] id: HP:0010683 ! Low tissue non-specific alkaline phosphatase intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme [Term] id: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme [Term] id: HP:0010981 ! Hypolipoproteinemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:50404 ! lipoprotein cholesterol [Term] id: HP:0003351 ! Decreased circulating renin level intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000013883 ! renin [Term] id: HP:0000848 ! increased circulating renin level intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000013883 ! renin [Term] id: HP:0008247 ! Euthyroid hyperthyroxinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CHEBI:50404 ! lipoprotein cholesterol [Term] id: HP:0002155 ! Hypertriglyceridemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17855 ! triglyceride [Term] id: HP:0000021 ! Lower urinary tract dilatation intersection_of: PATO:0001571 ! dilated intersection_of: inheres_in FMA:45659 ! Lower urinary tract [Term] id: HP:0002171 ! Gliosis intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in _:glial_cell_growth [Term] id: HP:0002360 ! Sleep disturbances intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0030431 ! sleep intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010914 ! Abnormality of valine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006573 ! valine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100701 ! Abnormality of the pia mater intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9590 ! Pia mater intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002494 ! Abnormal rapid eye movement (REM) sleep intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0042747 ! circadian sleep/wake cycle, REM sleep intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006979 ! Sleep-wake cycle disturbance intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0022410 ! circadian sleep/wake cycle process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002960 ! Autoimmunity intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in_part_of FMA:256135 ! Body intersection_of: towards MPATH:346 ! autoimmune mediated disease [Term] id: HP:0008222 ! female infertility intersection_of: PATO:0000892 ! female sterile intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0003251 ! male infertility intersection_of: PATO:0000890 ! male sterile intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0000789 ! infertility intersection_of: PATO:0000956 ! sterile intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0004326 ! cachexia intersection_of: PATO:0000583 ! decreased weight intersection_of: inheres_in FMA:256135 ! Body intersection_of: qualifier PATO:0001869 ! pathological [Term] id: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:58103 ! Vascular layer of eyeball [Term] id: HP:0008056 ! Aplasia/Hypoplasia affecting the eye union_of: HP:0001143 ! Small eyes union_of: HP:0000528 ! Anophthalmia [Term] id: HP:0008053 ! Aplasia/Hypoplasia of the iris union_of: HP:0007676 ! hypoplasia of the iris union_of: HP:0000526 ! Aniridia [Term] id: HP:0000526 ! Aniridia intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:58235 ! Iris [Term] id: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:50863 ! Optic nerve [Term] id: HP:0008059 ! Aplasia/Hypoplasia of the macula intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:58637 ! Macula lutea [Term] id: HP:0008061 ! Aplasia/Hypoplasia affecting the retina intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0008063 ! Aplasia/Hypoplasia of the lens intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:58241 ! Lens [Term] id: HP:0008065 ! Aplasia/Hypoplasia of the skin intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0200040 ! Skin cysts intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7163 ! Skin intersection_of: towards MPATH:62 ! cyst [Term] id: HP:0002190 ! Choroid plexus cyst intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:61934 ! Choroid plexus of cerebral hemisphere intersection_of: towards MPATH:62 ! cyst [Term] id: HP:0000476 ! Cystic hygroma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7155 ! Neck intersection_of: towards MPATH:420 ! lymphangioma ! [Term] ! id: HP:0000476 ! Cystic hygroma ! intersection_of: PATO:0002002 ! has extra parts of type ! intersection_of: towards MPATH:62 ! cyst ! intersection_of: inheres_in FMA:7155 ! neck ! intersection_of: towards HP:0001004 ! Lymphedema [Term] id: HP:0002858 ! Meningioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:251 ! meningioma [Term] id: HP:0008119 ! Deformed tarsal bones intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:24491 ! Tarsal bone [Term] id: HP:0008124 ! Talipes calcaneovarus intersection_of: HP:0001883 ! Talipes intersection_of: inheres_in FMA:24496 ! Calcaneus ![Term] !id: HP:0008131 ! punctate calcifications of tarsals !intersection_of: HP:0008369 ! abnormal ossification of tarsal bones !intersection_of: qualifier PATO:0001512 ! punctate [Term] id: HP:0008131 ! Punctate calcifications of tarsals intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:24491 ! Tarsal bone intersection_of: qualifier PATO:0001512 ! punctate [Term] id: HP:0003567 ! Mucopolysacchariduria intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CHEBI:37395 ! mucopolysaccharides intersection_of: inheres_in FMA:12274 ! Portion of urine [Term] id: HP:0008213 ! Gonadotropin deficiency intersection_of: PATO:0001997 ! present in fewer numbers in organism intersection_of: towards FMA:83362 ! Gonadotropin [Term] id: HP:0008216 ! Dysplastic adrenal glands intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:9604 ! Adrenal gland ! both automated and Peter's proposed pattern are wrong ![Term] !id: HP:0008335 ! Renal aminoaciduria !intersection_of: HP:0003355 ! Aminoaciduria !intersection_of: inheres_in FMA:7203 ! Kidney ![Term] !id: HP:0008335 ! Renal aminoaciduria !intersection_of: PATO:0001162 ! increased concentration !intersection_of: inheres_in FMA:12274 ! Urine !intersection_of: towards CHEBI:33709 ! amino acid !intersection_of: PATO:0001624 ! decreased functionality !intersection_of: FMA:7203 ! kidney [Term] id: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:24491 ! Tarsal bone [Term] id: HP:0008451 ! Posterior vertebral hypoplasia intersection_of: HP:0008417 ! Vertebral hypoplasia intersection_of: inheres_in FMA:74533 ! Posterior [Term] id: HP:0008593 ! Prominent antitragus intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:61001 ! Antitragus [Term] id: HP:0008608 ! Hypertrophic auricular cartilage intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:61013 ! Auricular cartilage [Term] id: HP:0008635 ! Hypertrophy of the urinary bladder intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0008661 ! Urethral stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:19667 ! Urethra [Term] id: HP:0008665 ! Clitoral hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:9909 ! Clitoris [Term] id: HP:0008669 ! Impaired spermatogenesis intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0007283 ! spermatogenesis [Term] id: HP:0003209 ! Decreased pyruvate carboxylase activity intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0004736 ! pyruvate carboxylase activity [Term] id: HP:0004724 ! calcium nephrolithiasis intersection_of: HP:0000787 ! Kidney stones intersection_of: towards MPATH:36 ! calcium deposition [Term] id: HP:0008732 ! Renal hypophosphatemia intersection_of: HP:0002148 ! Hypophosphatemia intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0008750 ! Laryngeal atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:55097 ! Larynx [Term] id: HP:0008751 ! Laryngeal cleft intersection_of: PATO:0000403 ! cleft intersection_of: inheres_in FMA:55097 ! Larynx [Term] id: HP:0008773 ! Aplasia/Hypoplasia of the middle ear intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:56513 ! Middle ear !this is wrong: it's not just virus [Term] id: HP:0000389 ! Chronic otitis media intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:214 ! chronic inflammation intersection_of: inheres_in FMA:56513 ! Middle ear [Term] id: HP:0000371 ! Acute otitis media intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:213 ! acute inflammation intersection_of: inheres_in FMA:56513 ! Middle ear [Term] id: HP:0001735 ! Acute pancreatitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:213 ! acute inflammation intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0000230 ! Gingivitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:59762 ! Gingiva [Term] id: HP:0000031 ! Epididymitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:18255 ! Epididymis [Term] id: HP:0000832 ! Primary hypothyroidism intersection_of: HP:0000821 ! hypothyroidism intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0100028 ! Ectopic thyroid intersection_of: PATO:0000628 ! mislocalised intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0001101 ! Iritis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:58235 ! Iris [Term] id: HP:0000388 ! Otitis media intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:56513 ! Middle ear [Term] id: HP:0000403 ! Recurrent otitis media intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:56513 ! Middle ear intersection_of: qualifier PATO:0000427 ! recurrent [Term] id: HP:0006535 ! Recurrent intrapulmonary hemorrhage intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in FMA:7195 ! Lung intersection_of: qualifier PATO:0000427 ! recurrent [Term] id: HP:0000225 ! Gingival bleeding intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation intersection_of: inheres_in FMA:59762 ! Gingiva [Term] id: HP:0100851 ! Abnormal emotion/affect behaviour intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000003 ! emotional behaviour [Term] id: HP:0100852 ! Abnormal fear/anxiety-related behavior intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000018 ! fear/anxiety related behaviour [Term] id: HP:0008774 ! Aplasia/Hypoplasia of the inner ear intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:60909 ! Internal ear [Term] id: HP:0009023 ! Abdominal wall muscle weakness intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:32558 ! Musculature intersection_of: inheres_in_part_of FMA:10429 ! Wall of abdomen proper [Term] id: HP:0009024 ! Calf muscle hypertrophy intersection_of: HP:0003712 ! Muscle hypertrophy intersection_of: inheres_in_part_of FMA:24984 ! Posterior part of leg [Term] id: HP:0008962 ! Hypoplastic calf muscles intersection_of: HP:0009004 ! Muscle hypoplasia intersection_of: inheres_in_part_of FMA:24984 ! Posterior part of leg [Term] id: HP:0000486 ! Strabismus intersection_of: PATO:0001654 ! misaligned with intersection_of: inheres_in FMA:58164 ! Right optic axis intersection_of: towards FMA:58165 ! Left optic axis [Term] id: HP:0000577 ! Exotropia intersection_of: PATO:0002174 ! misaligned away from intersection_of: inheres_in FMA:58164 ! Right optic axis intersection_of: towards FMA:58165 ! Left optic axis [Term] id: HP:0000565 ! Esotropia intersection_of: PATO:0002173 ! misaligned towards intersection_of: inheres_in FMA:58164 ! Right optic axis intersection_of: towards FMA:58165 ! Left optic axis [Term] id: HP:0002919 ! Ketonuria intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CHEBI:17087 ! ketones intersection_of: inheres_in FMA:12274 ! Portion of urine [Term] id: HP:0001946 ! Ketosis intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in GO:0046951 ! ketone body biosynthetic process ! cause ![Term] !id: HP:0000998 ! Hypertrichosis !intersection_of: PATO:0000912 ! increased rate !intersection_of: inheres_in GO:0042640 ! anagen [Term] id: HP:0000998 ! Hypertrichosis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:53667 ! Hair ! need to say growth in place where it does not normally occurs ! ![Term] !id: HP:0001007 ! Hirsutism !intersection_of: PATO:0000912 ! increased rate !intersection_of: inheres_in GO:0042640 ! anagen [Term] id: HP:0003110 ! Abnormality of urine homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of _:urine_homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000872 ! Hashimoto thyroiditis intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000821 ! hypothyroidism intersection_of: has_part HP:0000389 ! Chronic otitis media [Term] id: HP:0006942 ! Bladder and bowel incontinence intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000020 ! Urinary incontinence intersection_of: has_part HP:0002607 ! Bowel incontinence [Term] id: HP:0000356 ! Abnormality of the outer ear intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:52781 ! External ear intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000414 ! Bulbous nose intersection_of: PATO:0000595 ! increased volume intersection_of: inheres_in FMA:46472 ! Nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000417 ! Slender nose intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:46472 ! Nose [Term] id: HP:0006101 ! Finger syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:9666 ! Finger intersection_of: towards FMA:9666 ! Finger [Term] id: HP:0001770 ! Toe syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:25046 ! Toe intersection_of: towards FMA:25046 ! Toe ! TODO - use uberon? [Term] id: HP:0001159 ! Syndactyly union_of: HP:0006101 ! Finger syndactyly union_of: HP:0001770 ! Toe syndactyly [Term] id: HP:0006097 ! 3-4 finger syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:24947 ! Middle finger intersection_of: towards FMA:24948 ! Ring finger [Term] id: HP:0010705 ! 4-5 finger syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:24949 ! Little finger intersection_of: towards FMA:24948 ! Ring finger [Term] id: HP:0001233 ! 2-3 finger syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:24946 ! Index finger intersection_of: towards FMA:24947 ! Middle finger [Term] id: HP:0010706 ! 1-3 finger syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001233 ! 2-3 finger syndactyly intersection_of: has_part HP:0010704 ! 1-2 finger syndactyly [Term] id: HP:0010704 ! 1-2 finger syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:24938 ! Thumb intersection_of: towards FMA:24946 ! Index finger [Term] id: HP:0010709 ! 2-4 finger syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001233 ! 2-3 finger syndactyly intersection_of: has_part HP:0006097 ! 3-4 finger syndactyly [Term] id: HP:0010710 ! 3-5 finger syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010705 ! 4-5 finger syndactyly intersection_of: has_part HP:0006097 ! 3-4 finger syndactyly [Term] id: HP:0010708 ! 1-5 finger syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010706 ! 1-3 finger syndactyly intersection_of: has_part HP:0010710 ! 3-5 finger syndactyly [Term] id: HP:0010707 ! 1-4 finger syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010706 ! 1-3 finger syndactyly intersection_of: has_part HP:0006097 ! 3-4 finger syndactyly [Term] id: HP:0010692 ! 2-5 finger syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010709 ! 2-4 finger syndactyly intersection_of: has_part HP:0010710 ! 3-5 finger syndactyly [Term] id: HP:0000201 ! Pierre-Robin sequence intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000347 ! mandibular hypoplasia intersection_of: has_part HP:0000162 ! glossoptosis intersection_of: has_part HP:0000175 ! cleft palate [Term] id: HP:0001240 ! Short, broad thumbs intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009651 ! Broad phalanges of the thumb intersection_of: has_part HP:0009660 ! Hypoplastic/small phalanges of the thumb [Term] id: HP:0009971 ! Polydactyly affecting the 4th finger intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards FMA:24948 ! Ring finger [Term] id: HP:0007620 ! Cutaneous leiomyoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7163 ! Skin intersection_of: towards MPATH:425 ! leiomyoma [Term] id: HP:0000131 ! Uterine leiomyoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:17558 ! Uterus intersection_of: towards MPATH:425 ! leiomyoma [Term] id: HP:0005400 ! Reduction of neutrophil motility intersection_of: PATO:0002297 ! decreased cellular motility intersection_of: inheres_in CL:0000775 ! neutrophil [Term] id: HP:0002667 ! Nephroblastoma (Wilms tumor) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7203 ! Kidney intersection_of: towards MPATH:261 ! nephroblastoma [Term] id: HP:0001161 ! Polydactyly (hands) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards FMA:9666 ! Finger [Term] id: HP:0006159 ! Central polydactyly (hands) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards _:second_third_or_fourth_fingers [Term] id: _:second_third_or_fourth_fingers union_of: FMA:24946 ! Index finger union_of: FMA:24947 ! Middle finger union_of: FMA:24948 ! Ring finger [Term] id: HP:0001829 ! Polydactyly (feet) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:25046 ! Toe intersection_of: towards FMA:25046 ! Toe ! Flexor muscle is an anatomical relation in FMA ![Term] !id: HP:0003722 ! Neck flexor weakness !intersection_of: PATO:0001779 ! decreased strength !intersection_of: inheres_in_part_of FMA:74999 ! Flexor muscle [Term] id: HP:0000631 ! Retinal arterial tortuosity intersection_of: HP:0005116 ! Arterial tortuosity intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0000665 ! Lens dislocation intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:58241 ! Lens [Term] id: HP:0000696 ! Delayed eruption of permanent teeth intersection_of: HP:0000684 ! Delayed eruption intersection_of: inheres_in FMA:75152 ! Secondary dentition [Term] id: HP:0000807 ! Glandular hypospadias intersection_of: PATO:0002168 ! displaced to intersection_of: inheres_in FMA:19649 ! Base of glans penis intersection_of: towards FMA:19650 ! External urethral orifice [Term] id: HP:0000951 ! Abnormality of the skin intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7163 ! Skin intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011138 ! Abnormality of skin adnexa intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:70594 ! Arbitrary zone of epidermis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000996 ! Facial capillary hemangioma intersection_of: HP:0000329 ! Facial hemangioma intersection_of: inheres_in FMA:63194 ! Capillary [Term] id: HP:0001080 ! Biliary tract abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:14665 ! Biliary tree intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001122 ! Aplasia/Hypoplasia of the choroid intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:58298 ! Choroid [Term] id: HP:0001427 ! Mitochondrial inheritance intersection_of: HP:0000005 ! Mode of inheritance intersection_of: inheres_in GO:0005739 ! mitochondrion [Term] id: HP:0001507 ! Growth abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0040007 ! growth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001574 ! Abnormality of the integument intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:74657 ! Integument intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001595 ! Abnormality of the hair intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:53667 ! Hair intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001596 ! Alopecia intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards FMA:53667 ! Hair [Term] id: HP:0001602 ! Laryngeal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:55097 ! Larynx [Term] id: HP:0001712 ! Left ventricular hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:7101 ! Left ventricle [Term] id: HP:0009139 ! Osteolysis involving bones of the lower limbs intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in_part_of FMA:24140 ! Skeleton of lower limb [Term] id: HP:0009134 ! Osteolysis involving bones of the feet intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in_part_of FMA:24222 ! Skeleton of foot [Term] id: HP:0001842 ! Acroosteolysis (feet) intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in_part_of FMA:24493 ! Phalanx of toe [Term] id: HP:0001473 ! Osteolysis involving metatarsal bones intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in_part_of FMA:24492 ! Metatarsal bone [Term] id: HP:0001898 ! Increased red blood cell mass intersection_of: PATO:0001563 ! increased mass intersection_of: inheres_in FMA:62845 ! Erythrocyte [Term] id: HP:0001927 ! Acanthocytosis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:150 ! acanthosis intersection_of: inheres_in FMA:62845 ! Erythrocyte [Term] id: HP:0001939 ! Abnormality of metabolism/homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0008152 ! metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010898 ! Abnormality of sarcosine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:sarcosine_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:long_chain_acid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010996 ! Abnormality of monocarboxylic acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:monocarboxylic_acid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010968 ! Abnormality of liposaccharide metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in :liposaccharide_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001263 ! Developmental retardation intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0032502 ! development [Term] id: HP:0001510 ! Growth delay intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0040007 ! growth [Term] id: HP:0002043 ! Esophageal stricture intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:7131 ! Esophagus [Term] id: HP:0002127 ! Upper motor neuron abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:84631 ! Upper motor neuron intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002293 ! Alopecia of scalp intersection_of: HP:0001596 ! Alopecia intersection_of: inheres_in FMA:46494 ! Scalp [Term] id: HP:0002491 ! Spasticity of facial muscles intersection_of: HP:0001257 ! Spasticity intersection_of: inheres_in FMA:71288 ! Musculature of face [Term] id: HP:0002501 ! Spasticity of pharyngeal muscles intersection_of: HP:0001257 ! Spasticity intersection_of: inheres_in FMA:46619 ! Muscle of pharynx [Term] id: HP:0002777 ! Tracheal stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:7394 ! Trachea [Term] id: HP:0001217 ! Clubbing intersection_of: PATO:0001883 ! clavate intersection_of: inheres_in FMA:85518 ! Digit [Term] id: HP:0003042 ! Elbow dislocation intersection_of: HP:0001373 ! Joint dislocation intersection_of: inheres_in FMA:24901 ! Elbow [Term] id: HP:0003244 ! Penile hypospadias intersection_of: PATO:0002168 ! displaced to intersection_of: towards FMA:19650 ! External urethral orifice intersection_of: inheres_in FMA:19624 ! Ventral surface of penis [Term] id: HP:0003247 ! Overgrowth of external genitalia intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:45643 ! External genitalia ! this is wrong ! ![Term] !id: HP:0003313 ! anterior beaking of vertebral bodies !intersection_of: HP:0004568 ! beaking of vertebral bodies !intersection_of: inheres_in FMA:74532 ! anterior [Term] id: HP:0003400 ! Basal lamina 'onion bulb' formation intersection_of: HP:0003383 ! Onion bulb formation intersection_of: inheres_in GO:0005605 ! basal lamina ! This is wrong - we need to request FMA term ![Term] !id: HP:0001283 ! bulbar muscle weakness !intersection_of: HP:0001283 ! bulbar weakness !intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: HP:0003477 ! Axonal neuropathy intersection_of: HP:0009830 ! Peripheral neuropathy intersection_of: inheres_in GO:0030424 ! axon [Term] id: HP:0003737 ! Mitochondrial myopathy intersection_of: HP:0003198 ! Myopathy intersection_of: inheres_in GO:0005739 ! mitochondrion [Term] id: HP:0003756 ! Skeletal myopathy intersection_of: HP:0003198 ! Myopathy intersection_of: inheres_in_part_of FMA:23875 ! Skeleton [Term] id: HP:0003927 ! Cortical irregularity of humeral diaphysis intersection_of: HP:0005731 ! Cortical irregularity intersection_of: inheres_in FMA:13305 ! Diaphysis of humerus [Term] id: HP:0003940 ! Osteoarthritis of the elbow intersection_of: HP:0002758 ! Osteoarthritis intersection_of: inheres_in FMA:24901 ! Elbow [Term] id: HP:0003948 ! Irregular epiphyses of the elbow intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:24901 ! Elbow intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0004100 ! Abnormality of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009515 ! Cone-shaped epiphysis of the middle phalanx of the 2nd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:23933 ! Middle phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0004150 ! Abnormality of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24947 ! Middle finger intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0004153 ! overgrowth of middle finger !intersection_of: PATO:0000584 ! hypertrophic !intersection_of: inheres_in FMA:24947 ! middle finger [Term] id: HP:0004188 ! Abnormality of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24948 ! Ring finger intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0004196 ! short phalanges of the ring finger !intersection_of: HP:0009803 ! short phalanges !intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0004197 ! Symphalangism of the 4th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger intersection_of: towards FMA:35486 ! Phalanx of ring finger [Term] id: HP:0004207 ! Abnormality of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24949 ! Little finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004213 ! Abnormality of the phalanges of the 5th finger intersection_of: HP:0005918 ! Abnormality of the phalanges of the hand intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0009986 ! Complete duplication of the phalanges of the 5th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:35489 ! Phalanx of little finger [Term] id: HP:0009987 ! Partial duplication of the phalanges of the 5th finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0009985 ! Partial/complete duplication of phalanges of the 5th finger union_of: HP:0009986 ! Complete duplication of the phalanges of the 5th finger union_of: HP:0009987 ! Partial duplication of the phalanges of the 5th finger [Term] id: HP:0004322 ! Short stature intersection_of: PATO:0000569 ! decreased height intersection_of: inheres_in FMA:256135 ! Body [Term] id: HP:0002945 ! Intervertebral space narrowing intersection_of: PATO:0000569 ! decreased height intersection_of: inheres_in FMA:10446 ! Intervertebral disk [Term] id: HP:0010990 ! Abnormality of the common coagulation pathway intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0072377 ! blood coagulation, common pathway intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010930 ! Abnormality of monovalent inorganic cation homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0055067 ! monovalent inorganic cation homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011028 ! Abnormality of blood circulation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0008015 ! blood circulation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010989 ! Abnormality of the intrinsic pathway intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0007597 ! intrinsic pathway intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011018 ! Abnormality of the cell cycle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0007049 ! cell cycle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001516 ! Dwarfism intersection_of: PATO:0000969 ! dwarf-like intersection_of: inheres_in FMA:256135 ! Body !!! merged_into HP:0003510 ! Severe short stature [Term] id: HP:0001548 ! Overgrowth intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000098 ! Tall stature intersection_of: has_part HP:0000256 ! Macrocephaly [Term] id: HP:0000927 ! Abnormality of skeletal maturation intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0070977 ! bone maturation intersection_of: has_central_participant FMA:23875 ! Skeleton [Term] id: HP:0001665 ! Abnormality of cardiac conduction intersection_of: PATO:0001585 ! conductivity intersection_of: inheres_in FMA:7088 ! Heart intersection_of: qualifier PATO:0000460 ! abnormal !!! merged_into HP:0011675 ! Arrhythmia [Term] id: HP:0011026 ! Aplasia/Hypoplasia of the vagina intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:19949 ! Vagina [Term] id: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:24138 ! Cervical vertebral column [Term] id: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:18245 ! Uterine tube [Term] id: HP:0002256 ! Small bowel diverticula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7200 ! Small intestine intersection_of: towards MPATH:68 ! diverticulum [Term] id: HP:0005222 ! Bowel diverticulosis intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7199 ! Intestine intersection_of: towards MPATH:68 ! diverticulum [Term] id: HP:0000015 ! Bladder diverticula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:15902 ! Wall of urinary bladder intersection_of: towards MPATH:68 ! diverticulum [Term] id: HP:0011068 ! Odontoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:387 ! odontoma [Term] id: HP:0009733 ! Glioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:249 ! Glioma [Term] id: HP:0000046 ! Scrotal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:18252 ! Scrotum ! TODO: fix [Term] id: HP:0000054 ! Micropenis intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:9707 ! Penis [Term] id: HP:0004890 ! Elevated pulmonary artery pressure intersection_of: PATO:0001576 ! increased pressure intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: inheres_in_part_of FMA:66326 ! Pulmonary artery [Term] id: HP:0004941 ! Extrahepatic portal hypertension intersection_of: PATO:0001576 ! increased pressure intersection_of: inheres_in FMA:83066 ! Portion of arterial blood intersection_of: inheres_in_part_of FMA:71904 ! Pre-hepatic portal vein [Term] id: HP:0000071 ! Ureteral stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:9704 ! Ureter [Term] id: HP:0000083 ! Renal failure intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000085 ! Horseshoe kidney intersection_of: PATO:0001879 ! U-shaped intersection_of: inheres_in FMA:7203 ! Kidney ! TODO: fix (identical with poly/multicystic kidney) [Term] id: HP:0000107 ! Renal cysts intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:62 ! cyst intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000133 ! Gonadal dysgenesis intersection_of: PATO:0002019 ! aplastic growth intersection_of: inheres_in FMA:18250 ! Gonad [Term] id: HP:0000139 ! Uterine prolapse intersection_of: PATO:0000623 ! exserted intersection_of: inheres_in FMA:17558 ! Uterus [Term] id: HP:0000212 ! Gingival overgrowth intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:59762 ! Gingiva [Term] id: HP:0000222 ! Gingival hyperkeratosis intersection_of: HP:0000962 ! Hyperkeratosis intersection_of: inheres_in FMA:59762 ! Gingiva [Term] id: HP:0000282 ! Facial edema intersection_of: PATO:0001450 ! edematous intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000297 ! Facial hypotonia intersection_of: HP:0001252 ! Muscular hypotonia intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000317 ! Facial myokymia intersection_of: HP:0002411 ! Myokymia intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000324 ! Facial asymmetry intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000329 ! Facial hemangioma intersection_of: HP:0001028 ! Hemangiomas intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0000363 ! Abnormality of ear lobes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:60984 ! Lobule of pinna intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000402 ! Stenotic external auditory canal intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:61734 ! External acoustic tube [Term] id: HP:0000385 ! Hypoplastic ear lobes intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:60984 ! Lobule of pinna [Term] id: HP:0000430 ! Hypoplastic nasal alae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:59502 ! Nasal cartilage [Term] id: HP:0000482 ! Microcornea intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:58238 ! Cornea ![Term] !id: HP:0000544 ! External ophthalmoplegia !intersection_of: HP:0000602 ! Ophthalmoplegia !intersection_of: inheres_in FMA:74548 ! External [Term] id: HP:0000556 ! Retinal dystrophy intersection_of: PATO:0001780 ! dystrophic intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0000608 ! Macular degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:58637 ! Macula lutea [Term] id: HP:0011030 ! Abnormality of transition element cation homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:33515 ! transition element cation intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0003111 ! Abnormality of ion homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:24867 ! monoatomic ion intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0003355 ! Abnormal urinary amino-acid findings intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:33709 ! amino acid [Term] id: HP:0010701 ! Abnormal immunoglobulin level intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards IMR:0002090 ! immunoglobulin intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0004364 ! Abnormality of nitrogen compound homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:51143 ! nitrogen compounds [Term] id: HP:0004313 ! Hypogammaglobulinemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards IMR:0002094 ! IgG intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0010702 ! Hypergammaglobulinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: towards IMR:0002094 ! IgG intersection_of: inheres_in FMA:9670 ! Portion of blood ! should we make this more complete by adding adding "results in blood acidification" [Term] id: HP:0003128 ! Lactic acidosis intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:28358 ! lactic acid [Term] id: HP:0004925 ! Chronic lactic acidosis intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:28358 ! lactic acid intersection_of: qualifier PATO:0001863 ! chronic [Term] id: HP:0010720 ! Abnormal hair growth pattern intersection_of: PATO:0000161 ! rate intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in GO:0042640 ! anagen [Term] id: HP:0000764 ! Axonal degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in GO:0030424 ! axon [Term] id: HP:0000792 ! Kidney malformation intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0000859 ! Increased plasma aldosterone intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:27584 ! aldosterone [Term] id: HP:0002249 ! Melena intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:64183 ! Feces intersection_of: towards FMA:9670 ! Portion of blood [Term] id: HP:0002910 ! Elevated transaminases intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards IMR:0000951 ! transaminase [Term] id: HP:0008628 ! Stapedial abnormalities intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:49027 ! Stapedius intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010977 ! Abnormality of phagocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000518 ! phagocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011027 ! Abnormality of the fallopian tube intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:18245 ! Uterine tube intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010950 ! Abnormality of the fourth ventricle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:78469 ! Fourth ventricle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011024 ! Abnormality of the gastrointestinal tract intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004363 ! Abnormality of calcium homeostasis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0055074 ! calcium ion homeostasis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000944 ! Abnormality of the metaphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24014 ! Metaphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000968 ! Ectodermal dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:69070 ! Ectoderm [Term] id: HP:0000471 ! Gastrointestinal angiodysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:71132 ! Gastrointestinal tract [Term] id: HP:0006420 ! Asymmetric radial dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0000705 ! Amelogenesis imperfecta intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:55629 ! Enamel [Term] id: HP:0001072 ! Thickened skin intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0001093 ! Optic nerve dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:50863 ! Optic nerve [Term] id: HP:0008697 ! Hypoplasia of the fallopian tube intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:18245 ! Uterine tube [Term] id: HP:0001104 ! Macular hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:58637 ! Macula lutea [Term] id: HP:0001116 ! Macular coloboma intersection_of: HP:0000589 ! Coloboma intersection_of: inheres_in FMA:58637 ! Macula lutea [Term] id: HP:0001131 ! Corneal dystrophy intersection_of: PATO:0001780 ! dystrophic intersection_of: inheres_in FMA:58238 ! Cornea [Term] id: HP:0001144 ! Orbital cysts intersection_of: PATO:0001673 ! cystic intersection_of: inheres_in FMA:53074 ! Orbit [Term] id: HP:0001540 ! Diastasis recti intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:9628 ! Rectus abdominis ! This should be a named term in HPO [Term] id: _:short_metacarpals is_anonymous: true intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0001225 ! Wrist swelling intersection_of: PATO:0001851 ! swollen intersection_of: inheres_in FMA:24922 ! Wrist [Term] id: HP:0001230 ! Broad metacarpals intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0005813 ! Short 5th finger with absent/rudimentary middle phalanx intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009162 ! Aplasia of the middle phalanx of the 5th finger intersection_of: has_part _:short_5th_finger ! This should be a named term in HPO [Term] id: _:short_5th_finger is_anonymous: true intersection_of: PATO:0000569 ! decreased height intersection_of: inheres_in FMA:32902 ! Phalanx of little toe [Term] id: HP:0001231 ! Abnormality of the fingernails intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54327 ! Nail of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001321 ! Cerebellar hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0001399 ! Hepatic failure intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0100523 ! Liver abscess intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:608 ! abscess intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0006554 ! Acute hepatic failure intersection_of: PATO:0001511 ! non-functional intersection_of: qualifier PATO:0000389 ! acute intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0006573 ! Acute hepatic steatosis intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:622 ! steatosis intersection_of: inheres_in FMA:7197 ! Liver intersection_of: qualifier PATO:0000389 ! acute [Term] id: HP:0100015 ! Stahl ear intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards FMA:61024 ! Crus of helical part of auricular cartilage intersection_of: inheres_in FMA:60992 ! Helix [Term] id: HP:0001407 ! Hepatic cysts intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:62 ! cyst intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0001498 ! Carpal bone hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0001495 ! Carpal osteolysis intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0001634 ! Mitral valve prolapse intersection_of: PATO:0000623 ! exserted intersection_of: inheres_in FMA:7235 ! Mitral valve [Term] id: HP:0000682 ! Abnormality of dental enamel intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55629 ! Enamel intersection_of: inheres_in_part_of FMA:12516 ! Tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001704 ! Tricuspid valve prolapse intersection_of: PATO:0000623 ! exserted intersection_of: inheres_in FMA:7234 ! Tricuspid valve [Term] id: HP:0001717 ! Coronary artery calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:49893 ! Coronary artery [Term] id: HP:0001760 ! Abnormality of the feet intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:9664 ! Foot intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001850 ! Abnormality of the tarsal bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24491 ! Tarsal bone intersection_of: inheres_in_part_of FMA:9664 ! Foot intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001769 ! Broad feet intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0001783 ! Broad metatarsals intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24492 ! Metatarsal bone [Term] id: HP:0001785 ! Ankle swelling intersection_of: PATO:0001851 ! swollen intersection_of: inheres_in FMA:9665 ! Ankle [Term] id: HP:0001802 ! Absent toenails intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:54328 ! Nail of toe [Term] id: HP:0001800 ! Hypoplastic toenails intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:54328 ! Nail of toe [Term] id: HP:0010624 ! Aplastic/hypoplastic toenails union_of: HP:0001802 ! Absent toenails union_of: HP:0001800 ! hypoplastic toenail [Term] id: HP:0001805 ! Thickened nails intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0001810 ! Dystrophic toenails intersection_of: PATO:0001780 ! dystrophic intersection_of: inheres_in FMA:54328 ! Nail of toe [Term] id: HP:0004808 ! Acute myeloid leukemia intersection_of: HP:0002488 ! Acute leukemia intersection_of: inheres_in FMA:83524 ! Myeloblast [Term] id: HP:0002006 ! Facial cleft intersection_of: PATO:0001786 ! split intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0002035 ! Rectal prolapse intersection_of: PATO:0000623 ! exserted intersection_of: inheres_in FMA:14544 ! Rectum [Term] id: HP:0002151 ! Increased serum lactate intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:63083 ! Serum intersection_of: towards CHEBI:24996 ! lactate [Term] id: HP:0002219 ! Facial hypertrichosis intersection_of: HP:0000998 ! Hypertrichosis intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0002314 ! Degeneration of the lateral corticospinal tracts intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:72635 ! Lateral corticospinal tract [Term] id: HP:0002350 ! Cerebellar cysts intersection_of: PATO:0001673 ! cystic intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0002365 ! Hypoplasia of the brainstem intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:79876 ! Brainstem [Term] id: HP:0002398 ! Degeneration of anterior horn cells intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:83617 ! Motor neuron [Term] id: HP:0002438 ! Cerebellar malformation intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0002480 ! Hepatic encephalopathy intersection_of: HP:0001298 ! Encephalopathy intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0002487 ! Hyperkinesis intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in GO:0042465 ! kinesis [Term] id: HP:0002490 ! Increased CSF lactate intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:20935 ! Cerebrospinal fluid intersection_of: towards CHEBI:24996 ! lactate [Term] id: HP:0002564 ! Cardiac malformation intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in_part_of FMA:7088 ! Heart [Term] id: HP:0001654 ! Abnormality of the heart valves intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7110 ! Cardiac valve intersection_of: inheres_in_part_of FMA:7088 ! Heart intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002594 ! Pancreatic hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0001733 ! Pancreatitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0001287 ! Meningitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:231572 ! Meningeal cluster [Term] id: HP:0002093 ! Respiratory insufficiency intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in FMA:7158 ! Respiratory system [Term] id: HP:0100606 ! Neoplasia of the respiratory system intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7158 ! Respiratory system intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0001737 ! Pancreatic cysts intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7198 ! Pancreas intersection_of: towards MPATH:62 ! cyst [Term] id: HP:0008261 ! Pancreatic islet cell adenoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:287 ! islet cell adenoma intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0008194 ! Multiple pancreatic beta-cell adenomas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:287 ! islet cell adenoma intersection_of: inheres_in FMA:7198 ! Pancreas intersection_of: qualifier PATO:0002118 ! multiple [Term] id: HP:0007437 ! Multiple cutaneous leiomyomas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:425 ! leiomyoma intersection_of: inheres_in FMA:7163 ! Skin intersection_of: qualifier PATO:0002118 ! multiple [Term] id: HP:0002600 ! Hyporeflexia of lower limbs intersection_of: HP:0001265 ! Hyporeflexia intersection_of: inheres_in FMA:7184 ! Lower limb [Term] id: HP:0002625 ! Deep venous thrombosis intersection_of: HP:0004936 ! Venous thrombosis intersection_of: inheres_in FMA:74551 ! Deep [Term] id: HP:0002787 ! Tracheal calcifications intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:7394 ! Trachea [Term] id: HP:0002810 ! Dumbbell-shaped metaphyses intersection_of: PATO:0001876 ! dumbbell-shaped intersection_of: inheres_in FMA:24014 ! Metaphysis [Term] id: HP:0002920 ! Decreased serum ACTH intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:63083 ! Serum intersection_of: towards FMA:74639 ! Adrenocorticotropin [Term] id: HP:0010976 ! Reduction in B cell number intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CL:0000236 ! B cell [Term] id: HP:0005548 ! Megakaryocytopenia intersection_of: PATO:0001163 ! decreased concentration intersection_of: towards CL:0000556 ! megakaryocyte [Term] id: HP:0005404 ! Increase in B cell number intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CL:0000236 ! B cell [Term] id: HP:0008315 ! Decreased plasma total and free carnitine intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17126 ! carnitine [Term] id: HP:0002922 ! Increased CSF protein intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:20935 ! Cerebrospinal fluid intersection_of: towards FMA:67257 ! Protein [Term] id: HP:0002924 ! Decreased circulating aldosterone level intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:27584 ! aldosterone [Term] id: HP:0002936 ! Distal sensory impairment intersection_of: HP:0003474 ! Sensory impairment intersection_of: inheres_in FMA:30327 ! Distal [Term] id: HP:0002999 ! Dislocation of patella intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:24485 ! Patella [Term] id: HP:0003059 ! Abnormality of the radioulnar joints intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:38863 ! Radio-ulnar joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003118 ! Increased serum cortisol intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:63083 ! Serum intersection_of: towards CHEBI:17650 ! cortisol [Term] id: HP:0003154 ! Elevated plasma ACTH intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16608 ! Cholestenol [Term] id: HP:0000842 ! Hyperinsulinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000009054 ! insulin [Term] id: HP:0003532 ! Ornithinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:18257 ! ornithine [Term] id: HP:0003217 ! Hyperglutaminemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:28300 ! glutamine [Term] id: HP:0003234 ! Decreased plasma carnitine intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17126 ! carnitine [Term] id: HP:0003358 ! Elevated white blood cell cystine intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:62852 ! Leukocyte intersection_of: towards CHEBI:17376 ! cystine [Term] id: HP:0003452 ! Increased serum iron intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:63083 ! Serum intersection_of: towards CHEBI:18248 ! iron [Term] id: HP:0010442 ! Polydactyly intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:7182 ! Limb intersection_of: towards FMA:85518 ! Digit [Term] id: HP:0003542 ! Increased serum pyruvate intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:63083 ! Serum intersection_of: towards CHEBI:15361 ! pyruvate [Term] id: HP:0003572 ! Low plasma citrulline intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:18211 ! citrulline [Term] id: HP:0003575 ! Increased intracellular sodium intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in GO:0005622 ! intracellular intersection_of: towards CHEBI:26708 ! sodium [Term] id: HP:0003651 ! Presence of foam cells intersection_of: PATO:0000070 ! count intersection_of: inheres_in FMA:83586 ! Foam cell [Term] id: HP:0003658 ! Hypomethioninemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16811 ! methionine [Term] id: HP:0003235 ! Hypermethioninemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16811 ! methionine [Term] id: HP:0003286 ! Cystathioninemia intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CHEBI:17755 ! cystathionine intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0003153 ! Cystathioninuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:17755 ! cystathionine [Term] id: HP:0003703 ! Calf hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:24984 ! Posterior part of leg [Term] id: HP:0003842 ! Irregular epiphyses of the upper limbs intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:7183 ! Upper limb intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0003841 ! Fragmented epiphyses of the upper limbs intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:7183 ! Upper limb intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0005063 ! Fragmented, irregular epiphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010582 ! Irregular epiphyses intersection_of: has_part HP:0100168 ! Fragmented epiphyses [Term] id: HP:0003844 ! Small epiphyses of the upper limbs intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:7183 ! Upper limb intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0003849 ! Flared metaphyses of the upper limbs intersection_of: HP:0003015 ! Flared metaphyses intersection_of: inheres_in FMA:7183 ! Upper limb [Term] id: HP:0003850 ! Irregular metaphyses of the upper limbs intersection_of: HP:0003025 ! Irregular metaphyses intersection_of: inheres_in FMA:7183 ! Upper limb [Term] id: HP:0003886 ! Wide/broad humerus intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0003887 ! Abnormality of the humeral heads intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:13304 ! Head of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002981 ! Abnormality of the calf intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24984 ! Posterior part of leg intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003891 ! Abnormality of the humeral epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32825 ! Epiphysis of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003902 ! Stippled ossification of the humeral epiphyses intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in _:epiphysis_of_humerus_ossification [Term] id: HP:0003897 ! Irregular ossification of the humeral epiphyses intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: inheres_in _:epiphysis_of_humerus_ossification [Term] id: HP:0007400 ! Irregular hyperpigmentation intersection_of: HP:0000953 ! Hyperpigmentation of the skin intersection_of: qualifier PATO:0000330 ! irregular spatial pattern [Term] id: HP:0004997 ! Multicentric ossification of proximal humeral epiphyses intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in _:proximal_epiphysis_of_humerus_ossification [Term] id: HP:0006450 ! Multicentric ossification of proximal femoral epiphyses intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: inheres_in _:proximal_epiphysis_of_femoral_ossification [Term] id: HP:0003892 ! Absent ossification/Absence of the humeral epiphyses union_of: _:absent_humeral_epiphyses union_of: _:absent_ossification_of_the_humeral_epiphyses ! This should be a named term in HPO [Term] id: _:absent_humeral_epiphyses is_anonymous: true intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:32825 ! Epiphysis of humerus ! This should be a named term in HPO [Term] id: _:absent_ossification_of_the_humeral_epiphyses is_anonymous: true intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in GO:0001503 ! ossification intersection_of: towards FMA:32825 ! Epiphysis of humerus [Term] id: HP:0003898 ! Large humeral epiphyses intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:32825 ! Epiphysis of humerus [Term] id: HP:0000485 ! Megalocornea intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:58238 ! Cornea [Term] id: HP:0010945 ! Fetal pyelectasis intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:15575 ! Renal pelvis [Term] id: HP:0001572 ! Macrodontia intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:12516 ! Tooth [Term] id: HP:0000675 ! Macrodontia of permanent maxillary central incisor intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:55722 ! Upper central secondary incisor tooth [Term] id: HP:0001640 ! Cardiomegaly intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:7088 ! Heart !! MULTIPLE GENUS: [Term] id: HP:0011093 ! Molarization of premolar intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:55637 ! Premolar tooth intersection_of: PATO:0000051 ! morphology intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003899 ! Round humeral epiphyses intersection_of: PATO:0000411 ! round intersection_of: inheres_in FMA:32825 ! Epiphysis of humerus [Term] id: HP:0003900 ! Small humeral epiphyses intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32825 ! Epiphysis of humerus [Term] id: HP:0003903 ! Wide/broad humeral epiphyses intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32825 ! Epiphysis of humerus [Term] id: HP:0003894 ! Delayed maturation/delayed ossification of the humeral epiphyses intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:32825 ! Epiphysis of humerus [Term] id: HP:0003840 ! Delayed maturation/ossification of the epiphyses of the upper limbs intersection_of: PATO:0000502 ! delayed intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant _:upper_limb_epiphysis [Term] id: HP:0003896 ! Irregular humeral epiphyses intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:32825 ! Epiphysis of humerus [Term] id: HP:0003907 ! Abnormality of the humeral metaphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:32830 ! Metaphysis of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010937 ! Abnormality of the nasal skeleton intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:60116 ! Nasal skeleton intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003910 ! Enlarged humeral metaphyses intersection_of: PATO:0001602 ! distended intersection_of: inheres_in FMA:32830 ! Metaphysis of humerus [Term] id: HP:0003935 ! Wide/broad humeral diaphysis intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:13305 ! Diaphysis of humerus [Term] id: HP:0003949 ! Abnormality of the elbow metaphyses intersection_of: HP:0009811 ! Abnormality of the elbow intersection_of: inheres_in FMA:24014 ! Metaphysis [Term] id: HP:0003973 ! Wide/broad radioulnar joints intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:38863 ! Radio-ulnar joint [Term] id: HP:0003981 ! Wide/broad radius intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0003993 ! Wide/broad ulna intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003992 ! Slender ulna intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003999 ! Abnormality of radial epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33770 ! Epiphysis of radius intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004005 ! Large radial epiphyses intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:33770 ! Epiphysis of radius [Term] id: HP:0004006 ! Round radial epiphyses intersection_of: PATO:0000411 ! round intersection_of: inheres_in FMA:33770 ! Epiphysis of radius [Term] id: HP:0004010 ! Small radial epiphyses intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:33770 ! Epiphysis of radius [Term] id: HP:0005093 ! Absent proximal radial epiphyses intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:39780 ! Proximal epiphysis of radius [Term] id: HP:0004015 ! Abnormality of radial metaphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33789 ! Metaphysis of radius intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004026 ! Wide/broad radial metaphysis intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:33789 ! Metaphysis of radius [Term] id: HP:0004037 ! Abnormality of the ulnar epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:33748 ! Epiphysis of ulna intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004047 ! Wide/broad ulnar metaphysis intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:33767 ! Metaphysis of ulna [Term] id: HP:0008820 ! Absent ossification of capital femoral epiphysis intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in GO:0001503 ! ossification intersection_of: towards FMA:23362 ! Proximal epiphysis of humerus [Term] id: HP:0004242 ! Wide/broad carpal bones intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23889 ! Carpal bone [Term] id: HP:0004261 ! Wide/broad hamate bone intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23730 ! Hamate [Term] id: HP:0004320 ! Vaginal fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:70 ! fistula intersection_of: inheres_in FMA:19949 ! Vagina [Term] id: HP:0004321 ! Bladder fistula intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:70 ! fistula intersection_of: inheres_in FMA:15900 ! Urinary bladder [Term] id: HP:0004388 ! Microcolon intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:14543 ! Colon ![Term] !id: HP:0007256 ! Pyramidal signs !intersection_of: PATO:0001624 ! decreased functionality !intersection_of: inheres_in FMA:72634 ! Pyramidal tract [Term] id: HP:0001756 ! Vestibular hypofunction intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:7193 ! Vestibular system ! See: https://sourceforge.net/tracker/?func=detail&aid=3589487&group_id=76834&atid=595654 ![Term] !id: HP:0001751 ! Vestibular dysfunction !intersection_of: PATO:0001624 ! decreased functionality !intersection_of: inheres_in FMA:7193 ! Vestibular system [Term] id: HP:0008555 ! Absent vestibular function intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in FMA:7193 ! Vestibular system [Term] id: HP:0006279 ! Beta-cell dysfunction intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in CL:0000169 ! pancreatic B cell [Term] id: HP:0004403 ! Proximal esophageal atresia intersection_of: HP:0002032 ! Esophageal atresia intersection_of: inheres_in FMA:30326 ! Proximal ![Term] !id: HP:0000377 ! Abnormality of the pinna !intersection_of: PATO:0000001 ! quality !intersection_of: inheres_in FMA:56580 ! Pinna !intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004510 ! Islets of Langerhans hyperplasia intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:16016 ! Pancreatic islet [Term] id: HP:0004690 ! Thickened Achilles tendon intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:51061 ! Calcaneal tendon [Term] id: HP:0004762 ! Hypoplasia of right ventricle intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7098 ! Right ventricle [Term] id: HP:0006721 ! Acute lymphatic leukemia intersection_of: HP:0002488 ! Acute leukemia intersection_of: inheres_in FMA:83030 ! Lymphoblast [Term] id: HP:0004845 ! Acute monocytic leukemia intersection_of: HP:0002488 ! Acute leukemia intersection_of: inheres_in FMA:83553 ! Monoblast [Term] id: HP:0004962 ! Thoracic aorta calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:3786 ! Thoracic aorta [Term] id: HP:0004963 ! Calcifications of the aorta intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:3734 ! Aorta [Term] id: HP:0001680 ! Coarctation of aorta intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:3734 ! Aorta [Term] id: HP:0004940 ! Generalized arterial calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:50720 ! Artery intersection_of: qualifier PATO:0000635 ! unlocalised [Term] id: HP:0004971 ! pulmonary artery hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:66326 ! Pulmonary artery [Term] id: HP:0005033 ! ulnar hypoplasia, distal intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:33754 ! Distal epiphysis of ulna [Term] id: HP:0005067 ! Proximal fibular overgrowth intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:33729 ! Proximal epiphysis of fibula [Term] id: HP:0005146 ! Calcifications of the cardiac valves intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in_part_of FMA:7110 ! Cardiac valve [Term] id: HP:0005190 ! Proximal finger joint hyperextensibility intersection_of: HP:0006158 ! Finger joint hyperextensibility intersection_of: inheres_in FMA:30326 ! Proximal [Term] id: HP:0005209 ! Intrahepatic bile duct cysts intersection_of: PATO:0001673 ! cystic intersection_of: inheres_in FMA:15766 ! Intrahepatic bile duct [Term] id: HP:0005213 ! Pancreatic calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0005232 ! Pancreatic dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0005290 ! Internal carotid artery hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:3947 ! Internal carotid artery [Term] id: HP:0005303 ! Aortic arch calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:3768 ! Arch of aorta [Term] id: HP:0003901 ! Stippled calcification of the humeral epiphyses intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:23362 ! Proximal epiphysis of humerus intersection_of: qualifier PATO:0001512 ! punctate [Term] id: HP:0008838 ! Stippled calcification proximal humeral epiphyses intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:32825 ! Epiphysis of humerus intersection_of: qualifier PATO:0001512 ! punctate [Term] id: HP:0009891 ! Hypoplasia of the supraorbital ridges intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:53097 ! supra-orbital margin of frontal bone [Term] id: HP:0003261 ! Increased IgA level intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards FMA:62874 ! Immunoglobulin A [Term] id: HP:0003212 ! Increased IgE level intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards FMA:62875 ! Immunoglobulin E [Term] id: HP:0005435 ! Impaired T cell function intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in CL:0000084 ! T cell [Term] id: HP:0005462 ! Calcification of falx cerebri intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:83967 ! Falx cerebri [Term] id: HP:0005528 ! Bone marrow hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9608 ! Bone marrow [Term] id: HP:0005609 ! Gallbladder dysfunction intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:7202 ! Gallbladder [Term] id: HP:0005687 ! Deformed humeral heads intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:13304 ! Head of humerus [Term] id: HP:0010049 ! Hypoplastic/short metacarpal bones intersection_of: PATO:0000001 ! quality intersection_of: has_part _:short_metacarpals intersection_of: has_part HP:0010743 ! Hypoplastic metatarsals ! This was merged but not sure whether it was correct.... ! should be unmerged for the above decomposition ![Term] !id: HP:0010049 ! hypoplastic metacarpal !intersection_of: PATO:0000645 ! hypoplastic !intersection_of: inheres_in FMA:9612 ! metacarpal bone [Term] id: HP:0010048 ! Aplasia of metacarpal bones intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:9612 ! Metacarpal bone [Term] id: HP:0010757 ! Aplasia of the premaxilla intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:76869 ! Premaxilla [Term] id: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones union_of: HP:0010049 ! Hypoplastic/short metacarpal bones union_of: _:aplastic_metacarpal_bones ! This should be a named term in HPO [Term] id: _:aplastic_metacarpal_bones is_anonymous: true intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0011045 ! Agenesis of permanent maxillary central incisor intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:55712 ! Upper secondary incisor tooth [Term] id: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:52745 ! Nasal bone [Term] id: HP:0001798 ! Anonychia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:54326 ! Nail [Term] id: HP:0011052 ! Agenesis of maxillary premolar intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:55716 ! Upper secondary premolar tooth [Term] id: HP:0011051 ! Agenesis of premolar intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:55637 ! Premolar tooth [Term] id: HP:0011055 ! Agenesis of permanent molar intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:84207 ! Secondary molar tooth [Term] id: HP:0011053 ! Agenesis of mandibular premolar intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:55717 ! Lower secondary premolar tooth [Term] id: HP:0011047 ! Agenesis of primary mandibular central incisor intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:84215 ! Lower primary incisor tooth [Term] id: HP:0011046 ! Agenesis of primary maxillary central incisor intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:84216 ! Upper central primary incisor tooth [Term] id: HP:0011049 ! Agenesis of primary maxillary lateral incisor intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:84217 ! Upper lateral primary incisor tooth [Term] id: HP:0011057 ! Agenesis of second permanent molar intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in _:mandibular_second_permanent_molar_or_maxillary_second_permanent_molar [Term] id: _:mandibular_second_permanent_molar_or_maxillary_second_permanent_molar union_of: FMA:55815 ! mandibular second permanent molar union_of: FMA:55812 ! maxillary second permanent molar [Term] id: HP:0011056 ! Agenesis of first permanent molar tooth intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in _:maxillary_first_permanent_molar_or_mandibular_first_permanent_molar [Term] id: _:maxillary_first_permanent_molar_or_mandibular_first_permanent_molar union_of: FMA:55811 ! maxillary first permanent molar union_of: FMA:55814 ! mandibular first permanent molar [Term] id: HP:0001592 ! Selective tooth agenesis intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in _:incisor_premolar_molar [Term] id: _:incisor_premolar_molar union_of: FMA:12823 ! incisor union_of: FMA:55637 ! premolar union_of: FMA:55638 ! molar [Term] id: HP:0009659 ! Aplasia of the phalanges of the thumb intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0009803 ! Hypoplastic/small phalanges of the hand intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23914 ! Phalanx of finger [Term] id: HP:0005792 ! Humeral hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0005895 ! Radial deviation of thumb terminal phalanx intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0005824 ! Clinodactyly of second toes intersection_of: PATO:0002177 ! deviation towards the medial side intersection_of: inheres_in FMA:25048 ! Second toe ! This is wrong ![Term] !id: HP:0005856 ! ulnar dislocation of radial heads !intersection_of: HP:0003083 ! dislocated radial head !intersection_of: inheres_in FMA:23466 ! ulna !this is wrong ![Term] !id: HP:0009463 ! ulnar deviation of middle fingers !intersection_of: HP:0001193 ! ulnar deviation !intersection_of: inheres_in FMA:24947 ! middle finger [Term] id: HP:0005930 ! Abnormality of the epiphyses intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001707 ! Right ventricular abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7098 ! Right ventricle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002843 ! Abnormality of T cells intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000084 ! T cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005989 ! Redundant neck skin intersection_of: HP:0007391 ! Redundant skin folds intersection_of: inheres_in FMA:7155 ! Neck [Term] id: HP:0005999 ! Ureteral atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:9704 ! Ureter [Term] id: HP:0005248 ! Intrahepatic biliary atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:15766 ! Intrahepatic bile duct [Term] id: HP:0004399 ! Congenital pyloric atresia intersection_of: PATO:0001819 ! atretic intersection_of: inheres_in FMA:14581 ! Pylorus [Term] id: HP:0006028 ! Metaphyseal cupping of metacarpals intersection_of: HP:0003021 ! Metaphyseal cupping intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0006152 ! Proximal symphalangism (hands) intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:75816 ! Proximal phalanx of finger intersection_of: towards FMA:35483 ! Phalanx of middle finger [Term] id: HP:0006202 ! Osteolysis of scaphoids intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:23709 ! Scaphoid [Term] id: HP:0006253 ! Swelling of proximal interphalangeal joints intersection_of: PATO:0001851 ! swollen intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint [Term] id: HP:0001249 ! Mental retardation intersection_of: PATO:0001507 ! disrupted intersection_of: inheres_in GO:0050890 ! cognition [Term] id: HP:0001162 ! Postaxial polydactyly (hands) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards FMA:24949 ! Little finger [Term] id: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:35480 ! Phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:35480 ! Phalanx of index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0006274 ! Reduced pancreatic beta cells intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:70586 ! Type B cell of pancreatic islet [Term] id: HP:0006277 ! Pancreatic hyperplasia intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:7198 ! Pancreas [Term] id: HP:0006335 ! Persistence of primary teeth intersection_of: PATO:0000082 ! persistence intersection_of: inheres_in FMA:75151 ! Primary dentition ![Term] !id: HP:0009816 ! hypoplasia of the lower limbs !intersection_of: PATO:0000645 ! hypoplastic !intersection_of: inheres_in FMA:7184 ! lower limb [Term] id: HP:0006482 ! Abnormality of dental morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:12516 ! Tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006346 ! Screwdriver-shaped incisors intersection_of: PATO:0001938 ! rhomboid intersection_of: inheres_in FMA:12823 ! Incisor tooth [Term] id: HP:0011065 ! HP:0011065 ! Conical incisor intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:12823 ! Incisor tooth [Term] id: HP:0011080 ! Abnormality of dental morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:55637 ! Premolar tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011070 ! Abnormality of molar morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:55638 ! Molar tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011063 ! Abnormality of incisor morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:12823 ! Incisor tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011071 ! Abnormality of permanent molar morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:84207 ! Secondary molar tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006338 ! Malformation of mandibular premolars intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:55717 ! Lower secondary premolar tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003254 ! Abnormality of DNA repair intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006281 ! DNA repair intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000678 ! Dental crowding intersection_of: PATO:0000619 ! crowded intersection_of: inheres_in FMA:75150 ! Dentition [Term] id: HP:0000377 ! Abnormality of the pinna intersection_of: PATO:0000052 ! shape intersection_of: inheres_in FMA:52781 ! External ear intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006495 ! Aplasia/Hypoplasia of the ulna union_of: HP:0003022 ! ulnar hypoplasia union_of: HP:0003982 ! Aplasia of the ulna ! These terms need to be merged [Term] id: HP:0005097 ! ulnar hypoplasia/aplasia union_of: HP:0003022 ! ulnar hypoplasia union_of: HP:0003982 ! Aplasia of the ulna ! These terms need to be merged as well [Term] id: HP:0006410 ! Absent-hypoplastic ulnae union_of: HP:0003022 ! ulnar hypoplasia union_of: HP:0003982 ! Aplasia of the ulna [Term] id: HP:0006388 ! Hypoplastic/absent/deformed ulna union_of: HP:0003022 ! ulnar hypoplasia union_of: HP:0003982 ! Aplasia of the ulna union_of: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003022 ! Hypoplasia of the ulna intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0003974 ! Absent ossification/absence of radius intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:23463 ! Radius [Term] id: HP:0003982 ! Absent ossification/absent ulna intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:23466 ! Ulna [Term] id: HP:0006501 ! Aplasia/Hypoplasia of the radius intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0006507 ! Aplasia/Hypoplasia of the humerus intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0006539 ! Bronchial cartilage hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:62649 ! Cartilage of bronchus [Term] id: HP:0006559 ! Hepatic calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0006646 ! Costal cartilage calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:7591 ! Costal cartilage [Term] id: HP:0006703 ! Aplasia/Hypoplasia of the lungs intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:7195 ! Lung [Term] id: HP:0006931 ! Lipoma of corpus callosum intersection_of: HP:0001012 ! Lipomas intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0006996 ! Dysgenesis of corpus callosum intersection_of: PATO:0002019 ! aplastic growth intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0007033 ! Cerebellar dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0007036 ! Hypoplasia of olfactory tract intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:77626 ! Olfactory tract [Term] id: HP:0007096 ! Hypoplasia of the optic tract intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:62046 ! Optic tract [Term] id: HP:0007115 ! Orbital encephalocele intersection_of: PATO:0001646 ! protruding out of intersection_of: inheres_in_part_of FMA:50801 ! Brain intersection_of: inheres_in FMA:9637 ! Portion of tissue intersection_of: towards FMA:53074 ! Orbit [Term] id: HP:0011034 ! Amyloidosis intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:34 ! amyloid deposition intersection_of: inheres_in FMA:9637 ! Portion of tissue [Term] id: HP:0100292 ! Amyloidosis of peripheral nerves intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:34 ! amyloid deposition intersection_of: inheres_in FMA:9903 ! Peripheral nervous system [Term] id: HP:0005645 ! Intervertebral disk calcification intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:36 ! calcium deposition intersection_of: inheres_in FMA:10446 ! Intervertebral disk [Term] id: HP:0006690 ! Myocardial calcification intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:36 ! calcium deposition intersection_of: inheres_in FMA:9462 ! Myocardium [Term] id: HP:0100250 ! Meningeal calcification intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:36 ! calcium deposition intersection_of: inheres_in FMA:231572 ! Meningeal cluster [Term] id: HP:0009792 ! Teratoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:322 ! teratoma [Term] id: HP:0100616 ! Testicular teratoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:322 ! teratoma intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0100618 ! Leydig cell neoplasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:328 ! leydig cell tumor intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0009793 ! Presacral teratoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:718 ! Presacral teratoma [Term] id: HP:0002888 ! Ependymoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:247 ! ependymoma intersection_of: inheres_in FMA:55675 ! Neuraxis [Term] id: HP:0001397 ! Hepatic steatosis intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:622 ! steatosis intersection_of: inheres_in FMA:7197 ! Liver [Term] id: HP:0006693 ! Myocardial steatosis intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:622 ! steatosis intersection_of: inheres_in FMA:9462 ! Myocardium [Term] id: HP:0007129 ! Cerebellar medulloblastoma intersection_of: HP:0002885 ! Medulloblastoma intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0007275 ! Pyramidal tract dysfunction intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:72634 ! Pyramidal tract !!! merged_into HP:0007256 ! Abnormality of pyramidal motor function [Term] id: HP:0007299 ! Dysfunction of lateral corticospinal tracts intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:72635 ! Lateral corticospinal tract [Term] id: HP:0007319 ! Malformation of the central nervous system intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:55675 ! Neuraxis [Term] id: HP:0007343 ! Limbic malformations intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:7182 ! Limb [Term] id: HP:0007344 ! Atrophy/Degeneration involving the spinal cord intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:7647 ! Spinal cord [Term] id: HP:0100010 ! Spinal meningioma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:251 ! meningioma intersection_of: inheres_in FMA:7647 ! Spinal cord [Term] id: HP:0003700 ! Generalized amyotrophy intersection_of: PATO:0001623 ! atrophied intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:72954 ! Muscular system ! let's remove these patterns from OBOL - they are many and all wrong ![Term] !id: HP:0007345 ! Distal sensory and motor axonal neuropathy !intersection_of: HP:0007002 ! Sensory and motor axonal neuropathy !intersection_of: inheres_in FMA:30327 ! Distal [Term] id: HP:0007348 ! Hypoplasia of the pyramidal tract intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:72634 ! Pyramidal tract [Term] id: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:67944 ! Cerebellum [Term] id: HP:0007362 ! Aplasia/Hypoplasia of the brainstem intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:79876 ! Brainstem [Term] id: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:72634 ! Pyramidal tract [Term] id: HP:0007366 ! Atrophy/Degeneration affecting the brainstem intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:79876 ! Brainstem [Term] id: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:55675 ! Neuraxis [Term] id: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0007371 ! Atrophy/Degeneration of the corpus callosum intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:86464 ! Corpus callosum [Term] id: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of FMA:61833 ! Caudate nucleus [Term] id: HP:0000092 ! Tubular atrophy intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in FMA:15627 ! Renal tubule [Term] id: HP:0008682 ! renal tubular necrosis intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in _:renal_tubule_death [Term] id: HP:0000124 ! Renal tubular dysfunction intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:15627 ! Renal tubule [Term] id: HP:0007406 ! Hyperpigmentation of eyelids intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:eyelid_pigmentation [Term] id: HP:0007460 ! Autoamputation of digits intersection_of: HP:0001218 ! Autoamputation intersection_of: towards FMA:85518 ! Digit [Term] id: HP:0007676 ! Hypoplasia of the iris intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:58235 ! Iris [Term] id: HP:0005012 ! absence of radius and ulna intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003974 ! Absent ossification/absence of radius intersection_of: has_part HP:0003982 ! Absent ossification/absent ulna [Term] id: HP:0100259 ! Postaxial polydactyly union_of: HP:0001830 ! Postaxial polydactyly (feet) union_of: HP:0001162 ! Postaxial polydactyly (hands) [Term] id: HP:0000597 ! Ophthalmoparesis union_of: HP:0007715 ! Weak extraocular muscles union_of: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007705 ! Corneal degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:58238 ! Cornea [Term] id: HP:0007712 ! Choroidal dystrophy intersection_of: PATO:0001780 ! dystrophic intersection_of: inheres_in FMA:58298 ! Choroid [Term] id: HP:0007715 ! Weak extraocular muscles intersection_of: PATO:0001779 ! decreased strength intersection_of: inheres_in FMA:49033 ! Extra-ocular muscle [Term] id: HP:0007754 ! Macular dystrophy intersection_of: PATO:0001780 ! dystrophic intersection_of: inheres_in FMA:58637 ! Macula lutea [Term] id: HP:0007757 ! Hypoplasia of choroid intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:58298 ! Choroid [Term] id: HP:0007770 ! Retinal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0007774 ! Hypoplasia of the ciliary body intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:58295 ! Ciliary body [Term] id: HP:0007901 ! Retinal malformation intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0007945 ! Choroidal degeneration intersection_of: PATO:0000639 ! degenerate intersection_of: inheres_in FMA:58298 ! Choroid [Term] id: HP:0007763 ! Retinal telangiectasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:58301 ! Retina [Term] id: HP:0008049 ! Abnormality of the extraocular muscles intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:49033 ! Extra-ocular muscle intersection_of: qualifier PATO:0000460 ! abnormal ![Term] !id: HP:0008128 ! Flexion contractures of the toes !intersection_of: HP:0001371 ! Contractures !intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0008141 ! Dislocation of toes intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0008163 ! Plasma cortisol low intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17650 ! cortisol [Term] id: HP:0003292 ! Decreased serum leptin intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000009758 ! leptin [Term] id: HP:0008166 ! Decreased beta-galactosidase activity intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0004565 ! beta-galactosidase activity [Term] id: HP:0003637 ! Reduced 4-Hydroxyphenylpyruvate dioxygenase activity intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0003868 ! 4-hydroxyphenylpyruvate dioxygenase activity [Term] id: HP:0003210 ! Decreased methylmalonyl-CoA mutase activity intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0004494 ! methylmalonyl-CoA mutase activity [Term] id: HP:0008214 ! Decreased serum estradiol intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:63083 ! Serum intersection_of: towards CHEBI:23965 ! estradiol [Term] id: HP:0008233 ! Decreased serum progesterone intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:63083 ! Serum intersection_of: towards CHEBI:17026 ! progesterone [Term] id: HP:0008330 ! Decreased von Willebrand factor intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:81101 ! Von Willebrand factor [Term] id: HP:0008344 ! Elevated plasma branched chain amino acids intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:22918 ! branched chain amino acid [Term] id: HP:0003268 ! Argininuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:29016 ! arginine [Term] id: HP:0005961 ! Hypoargininemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:29016 ! arginine [Term] id: HP:0008388 ! Abnormality of the toenails intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:54328 ! Nail of toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010711 ! 1-2 toe syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:25047 ! Big toe intersection_of: towards FMA:25048 ! Second toe [Term] id: HP:0004691 ! 2-3 toe syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:25048 ! Second toe intersection_of: towards FMA:25051 ! Third toe [Term] id: HP:0009779 ! 3-4 toe syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:25051 ! Third toe intersection_of: towards FMA:25052 ! Fourth toe [Term] id: HP:0004692 ! 4-5 toe syndactyly intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:25052 ! Fourth toe intersection_of: towards FMA:25053 ! Little toe [Term] id: HP:0010714 ! 2-4 toe syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004691 ! 2-3 toe syndactyly intersection_of: has_part HP:0009779 ! 3-4 toe syndactyly [Term] id: HP:0010716 ! 3-5 toe syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0004692 ! 4-5 toe syndactyly intersection_of: has_part HP:0009779 ! 3-4 toe syndactyly [Term] id: HP:0010715 ! 2-5 toe syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010714 ! 2-4 toe syndactyly intersection_of: has_part HP:0004692 ! 4-5 toe syndactyly [Term] id: HP:0001459 ! 1-3 toe syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010711 ! 1-2 toe syndactyly intersection_of: has_part HP:0004691 ! 2-3 toe syndactyly [Term] id: HP:0010712 ! 1-4 toe syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010711 ! 1-2 toe syndactyly intersection_of: has_part HP:0010714 ! 2-4 toe syndactyly [Term] id: HP:0010713 ! 1-5 toe syndactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010712 ! 1-4 toe syndactyly intersection_of: has_part HP:0004692 ! 4-5 toe syndactyly [Term] id: HP:0008401 ! Onychogryposis of toenails intersection_of: HP:0001819 ! Onychogryposis intersection_of: inheres_in FMA:54328 ! Nail of toe [Term] id: HP:0008551 ! Hypoplasia of the external ear intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0009892 ! Anotia intersection_of: PATO:0002001 ! has fewer parts of type intersection_of: towards FMA:52781 ! External ear [Term] id: HP:0008772 ! Aplasia/Hypoplasia of the external ear union_of: HP:0009892 ! Anotia union_of: HP:0008551 ! Hypoplasia of the external ear [Term] id: HP:0008572 ! External ear malformation intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0008586 ! Hypoplasia of the cochlea intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:60201 ! Cochlea [Term] id: HP:0008589 ! Hypoplastic helices intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:60992 ! Helix [Term] id: HP:0009902 ! Notching of the ear helix intersection_of: PATO:0001495 ! notched intersection_of: inheres_in FMA:60992 ! Helix [Term] id: HP:0000391 ! Thickened helices intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:60992 ! Helix ! [Term] ! id: HP:0000376 ! Mondini malformation ! intersection_of: PATO:0000645 ! hypoplastic ! intersection_of: inheres_in_part_of FMA:60201 ! Cochlea [Term] id: HP:0000376 ! Mondini malformation intersection_of: PATO:0001796 ! decreased coiling intersection_of: inheres_in FMA:60201 ! Cochlea [Term] id: HP:0008609 ! Middle ear malformations intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:56513 ! Middle ear [Term] id: HP:0008639 ! Gonadal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:18250 ! Gonad [Term] id: HP:0008672 ! Calcium oxalate nephrolithiasis intersection_of: HP:0008725 ! Oxalate nephrolithiasis intersection_of: towards CHEBI:29320 ! calcium(0) [Term] id: HP:0008189 ! Insulin insensitivity intersection_of: PATO:0001550 ! decreased sensitivity toward intersection_of: towards PR:000009054 ! insulin [Term] id: HP:0008687 ! Hypoplasia of the prostate intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9600 ! Prostate [Term] id: HP:0008703 ! Gonadal calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in_part_of FMA:18250 ! Gonad [Term] id: HP:0008710 ! Small external genitalia intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:45643 ! External genitalia [Term] id: HP:0008747 ! Cartilaginous ossification of larynx intersection_of: PATO:0001448 ! ossified intersection_of: inheres_in FMA:55108 ! Laryngeal cartilage [Term] id: HP:0000123 ! Nephritis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:7203 ! Kidney intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0000121 ! nephrocalcinosis intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:7203 ! Kidney [Term] id: HP:0100537 ! Fasciitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:30318 ! Fascia cluster intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0100577 ! Urinary bladder inflammation intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:15900 ! Urinary bladder intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0001901 ! Polycythemia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: qualifier PATO:0001869 ! pathological intersection_of: towards CL:0000081 ! blood cell [Term] id: HP:0000704 ! Periodontitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:56665 ! Periodontium intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0002840 ! Lymphadenitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:5034 ! Lymph node intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0100653 ! Optic neuritis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:50863 ! Optic nerve intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0000024 ! Prostatitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:9600 ! Prostate intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0100646 ! Thyroiditis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:9603 ! Thyroid gland intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0000554 ! Uveitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in FMA:58103 ! Vascular layer of eyeball intersection_of: towards MPATH:212 ! inflammation [Term] id: HP:0007716 ! Malignant intraocular melanoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:359 ! melanoma intersection_of: inheres_in FMA:58103 ! Vascular layer of eyeball [Term] id: HP:0006769 ! Myxoid subcutaneous tumors intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:429 ! myxomatious tumor intersection_of: inheres_in FMA:9630 ! Superficial fascia [Term] id: HP:0001067 ! Neurofibromas intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:435 ! neurofibroma [Term] id: HP:0008715 ! Testicular dysgenesis intersection_of: PATO:0002019 ! aplastic growth intersection_of: inheres_in FMA:7210 ! Testis [Term] id: HP:0008724 ! Hypoplasia of the ovary intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:7209 ! Ovary [Term] id: HP:0010463 ! Aplasia of the ovary intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:7209 ! Ovary [Term] id: HP:0008726 ! Hypoplasia of the vagina intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:19949 ! Vagina [Term] id: HP:0008736 ! Hypoplasia of penis intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9707 ! Penis [Term] id: HP:0008743 ! Coronal hypospadias intersection_of: PATO:0002168 ! displaced to intersection_of: towards FMA:19650 ! External urethral orifice intersection_of: inheres_in FMA:19627 ! Corona of glans penis [Term] id: HP:0008744 ! Abnormality of the aryepiglottic fold intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55448 ! Ary-epiglottic fold intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008749 ! Laryngeal hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:55097 ! Larynx [Term] id: HP:0100605 ! Neoplasia of the larynx intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:55097 ! Larynx intersection_of: towards MPATH:218 ! neoplasm [Term] id: HP:0008752 ! Laryngeal cartilage malformations intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:55108 ! Laryngeal cartilage [Term] id: HP:0008754 ! Laryngeal calcifications intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:55097 ! Larynx [Term] id: HP:0008771 ! Aplasia/Hypoplasia of the ear intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:52780 ! Ear [Term] id: HP:0008777 ! Abnormality of the vocal cords intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:55457 ! Vocal fold intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008816 ! Hypoplastic pelvic bones intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:16585 ! Hip bone [Term] id: HP:0008839 ! Hypoplastic pelvis intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:9578 ! Pelvis [Term] id: HP:0000171 ! Microglossia intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0010808 ! protruding tongue intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0006488 ! Bowing of the arms intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:24890 ! Arm [Term] id: HP:0000698 ! Conical teeth intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:75150 ! Dentition [Term] id: HP:0002244 ! Abnormality of the small intestine intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:7200 ! Small intestine intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011448 ! Ankle clonus intersection_of: HP:0002169 ! Clonus intersection_of: inheres_in FMA:9665 ! Ankle [Term] id: HP:0002731 ! Defective lymphocyte apoptosis intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in GO:0070227 ! lymphocyte apoptosis [Term] id: HP:0002982 ! Tibial bowing intersection_of: PATO:0001592 ! increased curvature intersection_of: inheres_in FMA:24476 ! Tibia [Term] id: HP:0002986 ! Radial bowing intersection_of: PATO:0001592 ! increased curvature intersection_of: inheres_in FMA:23463 ! Radius [Term] id: HP:0005504 ! Defective erythropoiesis intersection_of: PATO:0001511 ! non-functional intersection_of: inheres_in GO:0030218 ! erythrocyte differentiation !!! merged_into HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001892 ! Bleeding diathesis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:119 ! hemorrhage and non-specified extravasation ! We need to know what difficulties mean ![Term] !id: HP:0004424 ! Micturition difficulties !intersection_of: PATO:0000911 ! decreased rate !intersection_of: inheres_in GO:0060073 ! urination [Term] id: HP:0001048 ! Cavernous hemangioma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:629 ! cavernous hemangioma [Term] id: HP:0007486 ! Cavernous hemangiomas, face intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:629 ! cavernous hemangioma intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0007905 ! Abnormal iris vasculature intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:69050 ! Vasculature intersection_of: inheres_in_part_of FMA:9612 ! Metacarpal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000387 ! Lobeless ears intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:60984 ! Lobule of pinna intersection_of: inheres_in FMA:56580 ! Pinna [Term] id: HP:0000429 ! Abnormality of the nasal alae intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:59519 ! Ala of nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000592 ! Blue sclerae intersection_of: PATO:0000592 ! decreased thicknessf intersection_of: inheres_in FMA:58269 ! Sclera [Term] id: HP:0100011 ! Scleral schwannoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:438 ! schwannoma intersection_of: inheres_in FMA:58269 ! Sclera [Term] id: HP:0001172 ! Abnormality of the thumb intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:24938 ! Thumb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001650 ! Aortic stenosis intersection_of: PATO:0001847 ! constricted intersection_of: inheres_in FMA:7236 ! Aortic valve [Term] id: HP:0001647 ! Bicuspid aortic valve intersection_of: PATO:0002281 ! biscupidate intersection_of: inheres_in FMA:7236 ! Aortic valve [Term] id: HP:0002943 ! Thoracic scoliosis intersection_of: HP:0002650 ! Scoliosis intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0002979 ! Bowing of the legs intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:24979 ! Leg [Term] id: HP:0002970 ! Genu varum intersection_of: PATO:0001649 ! curved lateral intersection_of: inheres_in FMA:24979 ! Leg [Term] id: HP:0003191 ! Notched nasal alae intersection_of: PATO:0001495 ! notched intersection_of: inheres_in FMA:59519 ! Ala of nose [Term] id: HP:0003540 ! Abnormal platelet aggregation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0070527 ! platelet aggregation intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004218 ! Symphalangism of the 5th finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:35489 ! Phalanx of little finger intersection_of: towards FMA:35489 ! Phalanx of little finger [Term] id: HP:0010064 ! Symphalangism affecting the phalanges of the hallux intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:32884 ! Phalanx of big toe intersection_of: towards FMA:32884 ! Phalanx of big toe [Term] id: HP:0010062 ! Osteolytic defects of the phalanges of the hallux intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0010060 ! Bullet-shaped phalanges of the hallux intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0100930 ! Sclerosis of the phalanges of the hallux intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0010063 ! Patchy sclerosis of the phalanges of the hallux intersection_of: HP:0100930 ! Sclerosis of the phalanges of the hallux intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0004756 ! Ventricular tachycardia intersection_of: HP:0001649 ! Tachycardia intersection_of: inheres_in FMA:82553 ! Ventricle [Term] id: HP:0005659 ! Thoracic kyphoscoliosis intersection_of: HP:0002751 ! Kyphoscoliosis intersection_of: inheres_in FMA:9576 ! Thorax [Term] id: HP:0006042 ! Y-shaped metacarpals intersection_of: PATO:0001201 ! Y-shaped intersection_of: inheres_in FMA:9612 ! Metacarpal bone [Term] id: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger union_of: HP:0009535 ! Aplasia of the 2nd finger union_of: HP:0009536 ! Hypoplastic/small 2nd finger [Term] id: HP:0006378 ! Osteolysis of patellae intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:24485 ! Patella [Term] id: HP:0006487 ! Bowing of the long bones intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:7474 ! Long bone [Term] id: HP:0007616 ! Nevus flammeus nuchae intersection_of: HP:0001052 ! Nevus flammeus intersection_of: inheres_in FMA:24189 ! Back of neck [Term] id: HP:0007835 ! S-shaped palpebral fissures intersection_of: PATO:0001878 ! sigmoid intersection_of: inheres_in FMA:59110 ! Palpebral fissure [Term] id: HP:0008756 ! Bowing of the vocal cords intersection_of: PATO:0000406 ! curved intersection_of: inheres_in FMA:55457 ! Vocal fold [Term] id: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009152 ! Abnormality of the epiphyses of the 5th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:35489 ! Phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:35489 ! Phalanx of little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009172 ! Abnormality of the phalanges of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0009973 ! Complete duplication of the phalanges of the 4th finger intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:35486 ! Phalanx of ring finger ![Term] !id: HP:0004144 ! Duplication of terminal index finger phalanx !intersection_of: PATO:0001473 ! duplicated !intersection_of: towards FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0000073 ! Ureteral duplication intersection_of: PATO:0001473 ! duplicated intersection_of: towards FMA:9704 ! Ureter [Term] id: HP:0009974 ! Partial duplication of the phalanges of the 4th finger intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0009972 ! Partial/complete duplication of phalanges of the 4th finger union_of: HP:0009973 ! Complete duplication of the phalanges of the 4th finger union_of: HP:0009974 ! Partial duplication of the phalanges of the 4th finger [Term] id: HP:0009405 ! Bullet-shaped phalanges of the 4th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0100920 ! Sclerosis of the phalanges of the 4th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0009406 ! Patchy sclerosis of the phalanges of the 4th finger intersection_of: HP:0100920 ! Sclerosis of the phalanges of the 4th finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009174 ! Abnormality of the epiphyses of the 4th finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009403 ! Triangular epiphyses of the 4th finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009399 ! Ivory epiphyses of the 4th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0004192 ! Bracket epiphyses of the 4th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger intersection_of: HP:0002797 ! Osteolysis intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0009375 ! Bullet-shaped phalanges of the 5th finger intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0100921 ! Sclerosis of the phalanges of the 5th finger intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger intersection_of: HP:0100921 ! Sclerosis of the phalanges of the 5th finger intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009190 ! Irregular epiphyses of the metacarpals intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:33792 ! Epiphysis of metacarpal bone [Term] id: HP:0004004 ! Irregular radial epiphyses intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:33770 ! Epiphysis of radius [Term] id: HP:0009194 ! Small epiphyses of the metacarpals intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:9612 ! Metacarpal bone intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0009237 ! Hypoplastic/small 5th finger intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24949 ! Little finger [Term] id: HP:0009240 ! Broad distal phalanx of the 5th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0010059 ! Broad phalanges of the hallux intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32884 ! Phalanx of big toe [Term] id: HP:0009187 ! Bracket epiphysis of the distal phalanx of the 5th finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23949 ! Distal phalanx of little finger [Term] id: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger union_of: HP:0009281 ! Aplasia of the 4th finger union_of: HP:0009280 ! Hypoplastic/small 4th finger [Term] id: HP:0009292 ! Broad distal phalanx of the 4th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009256 ! Ivory epiphysis of the distal phalanx of the 4th finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: inheres_in_part_of FMA:23948 ! Distal phalanx of ring finger [Term] id: HP:0009316 ! Abnormality of the phalanges of the 3rd finger intersection_of: HP:0005918 ! Abnormality of the phalanges of the hand intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger union_of: HP:0009460 ! Aplasia of the 3rd finger union_of: HP:0009461 ! Hypoplastic/small 3rd finger [Term] id: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009410 ! Absent epiphyses of the 3rd finger intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger intersection_of: towards FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009417 ! Pseudoepiphyses of the 3rd finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger [Term] id: HP:0010156 ! Pseudoepiphysis of the 1st metatarsal intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:33815 ! Epiphysis of first metatarsal bone [Term] id: HP:0010120 ! Pseudoepiphyses of the hallux intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32884 ! Phalanx of big toe [Term] id: HP:0009693 ! Pseudoepiphyses of the thumb intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb [Term] id: HP:0009671 ! Pseudoepiphysis of the proximal phalanx of the thumb intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0009400 ! Pseudoepiphyses of the 4th finger intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger [Term] id: HP:0009420 ! Triangular epiphyses of the 3rd finger intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009416 ! Ivory epiphyses of the 3rd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009411 ! Bracket epiphyses of the 3rd finger intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010233 ! Irregular epiphyses of the phalanges of the hand intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010236 ! Small epiphyses of the phalanges of the hand intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0010234 ! Ivory epiphyses of the phalanges of the hand intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger ! [Term] ! id: HP:0009374 ! Broad phalanges of the 5th finger ! intersection_of: PATO:0000600 ! increased width ! intersection_of: inheres_in_part_of FMA:24949 ! Little finger ! intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009374 ! Broad phalanges of the 5th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:35489 ! Phalanx of little finger [Term] id: HP:0009384 ! Cone-shaped epiphyses of the 5th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:24949 ! Little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0004000 ! Chevron-shaped/cone-shaped radial epiphyses intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:33770 ! Epiphysis of radius [Term] id: HP:0009385 ! Enlarged epiphyses of the 5th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:24949 ! Little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009387 ! Irregular epiphyses of the 5th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:24949 ! Little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009390 ! Small epiphyses of the 5th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:24949 ! Little finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009395 ! Cone-shaped epiphyses of the 4th finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009396 ! Enlarged epiphyses of the 4th finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009398 ! Irregular epiphyses of the 4th finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009401 ! Small epiphyses of the 4th finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger ! [Term] ! id: HP:0009404 ! Broad phalanges of the 4th finger ! intersection_of: PATO:0000600 ! increased width ! intersection_of: inheres_in_part_of FMA:35486 ! Phalanx of ring finger ! intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009404 ! Broad phalanges of the 4th finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:35486 ! Phalanx of ring finger [Term] id: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009413 ! Enlarged epiphyses of the 3rd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009415 ! Irregular epiphyses of the 3rd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009418 ! Small epiphyses of the 3rd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:35483 ! Phalanx of middle finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009422 ! Broad distal phalanx of the 3rd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23947 ! Distal phalanx of middle finger ! [Term] ! id: HP:0009440 ! Broad phalanges of the 3rd finger ! intersection_of: HP:0009768 ! Broad phalanges of the hand ! intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009440 ! Broad phalanges of the 3rd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger [Term] id: HP:0009445 ! Symphalangism of the 3rd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:35483 ! Phalanx of middle finger intersection_of: towards FMA:35483 ! Phalanx of middle finger [Term] id: HP:0005803 ! Coned epiphyses of hands and feet intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand intersection_of: has_part HP:0010164 ! Cone-shaped epiphyses of the toes [Term] id: HP:0005706 ! Short middle phalanx of fingers 2 and 5 intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009577 ! Hypoplastic/small middle phalanx of the 2nd finger intersection_of: has_part HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger [Term] id: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger union_of: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger union_of: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger union_of: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger [Term] id: HP:0006035 ! Cone-shaped epiphyses of phalanges 2 to 5 intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0009490 ! Cone-shaped epiphyses of the 2nd finger intersection_of: has_part HP:0009412 ! Cone-shaped epiphyses of the 3rd finger intersection_of: has_part HP:0009395 ! Cone-shaped epiphyses of the 4th finger intersection_of: has_part HP:0009384 ! Cone-shaped epiphyses of the 5th finger [Term] id: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009494 ! Ivory epiphyses of the 2nd finger intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009491 ! Enlarged epiphyses of the 2nd finger intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009493 ! Irregular epiphyses of the 2nd finger intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009496 ! Small epiphyses of the 2nd finger intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:24946 ! Index finger intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009541 ! Abnormality of the phalanges of the 2nd finger intersection_of: HP:0005918 ! Abnormality of the phalanges of the hand intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009545 ! Symphalangism of the 2nd finger intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:35480 ! Phalanx of index finger intersection_of: towards FMA:35480 ! Phalanx of index finger ! [Term] ! id: HP:0009547 ! Broad phalanges of the 2nd finger ! intersection_of: HP:0009768 ! Broad phalanges of the hand ! intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009547 ! Broad phalanges of the 2nd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:35480 ! Phalanx of index finger [Term] id: HP:0009558 ! Broad distal phalanx of the 2nd finger intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009561 ! Osteolytic defects of the distal phalanx of the 2nd finger intersection_of: HP:0009771 ! Osteolytic defects of the phalanges of the hand intersection_of: inheres_in FMA:23946 ! Distal phalanx of index finger [Term] id: HP:0009599 ! Abnormality of the epiphyses of the thumb intersection_of: HP:0005930 ! Abnormality of the epiphyses intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009601 ! Aplasia/Hypoplasia of the thumb intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0009602 ! Abnormality of the phalanges of the thumb intersection_of: HP:0005918 ! Abnormality of the phalanges of the hand intersection_of: inheres_in FMA:35477 ! Phalanx of thumb [Term] id: HP:0001177 ! Preaxial polydactyly (hands) intersection_of: PATO:0002002 ! has extra parts of type intersection_of: inheres_in FMA:9712 ! Hand intersection_of: towards FMA:24938 ! Thumb [Term] id: HP:0009638 ! Hypoplastic/small proximal phalanx of the thumb union_of: _:hypoplastic_proximal_phalanx_of_the_thumb union_of: _:small_proximal_phalanx_of_the_thumb [Term] id: HP:0100258 ! Preaxial polydactyly union_of: HP:0001841 ! Preaxial polydactyly (feet) union_of: HP:0001177 ! Preaxial polydactyly (hands) ! This should be a named term in HPO [Term] id: _:hypoplastic_proximal_phalanx_of_the_thumb is_anonymous: true intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb ! This should be a named term in HPO [Term] id: _:small_proximal_phalanx_of_the_thumb is_anonymous: true intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:23945 ! Distal phalanx of thumb [Term] id: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb union_of: HP:0009638 ! Hypoplastic/small proximal phalanx of the thumb union_of: HP:0009637 ! Aplasia of the proximal phalanx of the thumb [Term] id: HP:0011304 ! Broad thumb intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24938 ! Thumb [Term] id: HP:0009656 ! Symphalangism of the thumb intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:35477 ! Phalanx of thumb intersection_of: towards FMA:35477 ! Phalanx of thumb [Term] id: HP:0009631 ! Bullet-shaped proximal phalanx of the thumb intersection_of: PATO:0002087 ! bullet-shaped intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0100913 ! Sclerosis of the proximal phalanx of the thumb intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:23918 ! Proximal phalanx of thumb [Term] id: HP:0009634 ! Patchy sclerosis of the proximal phalanx of the thumb intersection_of: HP:0100913 ! Sclerosis of the proximal phalanx of the thumb intersection_of: qualifier PATO:0001608 ! patchy [Term] id: HP:0009688 ! Cone-shaped epiphyses of the thumb intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009690 ! Fragmentation of the epiphyses of the thumb intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009689 ! Enlarged epiphyses of the thumb intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009691 ! Irregular epiphyses of the thumb intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009694 ! Small epiphyses of the thumb intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:35477 ! Phalanx of thumb intersection_of: inheres_in FMA:240707 ! Epiphysis of phalanx of finger [Term] id: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers intersection_of: HP:0009473 ! Joint contractures involving the joints of the hand intersection_of: inheres_in FMA:65022 ! Proximal interphalangeal joint [Term] id: HP:0010341 ! Abnormality of the epiphyses of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100083 ! Ivory epiphyses of the 5th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100085 ! Small epiphyses of the 5th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100078 ! Bracket epiphyses of the 5th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100080 ! Enlarged epiphyses of the 5th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100082 ! Irregular epiphyses of the 5th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100079 ! Cone-shaped epiphyses of the 5th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100086 ! Stippling of the epiphyses of the 5th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100087 ! Triangular epiphyses of the 5th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:25053 ! Little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100084 ! Pseudoepiphyses of the 5th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:25053 ! Little toe [Term] id: HP:0100077 ! Absent epiphyses of the 5th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:25053 ! Little toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0009714 ! Abnormality of the epididymis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:18255 ! Epididymis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009729 ! Cardiac rhabdomyoma intersection_of: HP:0009730 ! Rhabdomyoma intersection_of: inheres_in FMA:7088 ! Heart [Term] id: HP:0009734 ! Optic glioma intersection_of: HP:0009733 ! Glioma intersection_of: inheres_in FMA:50863 ! Optic nerve [Term] id: HP:0009735 ! Spinal neurofibromas intersection_of: HP:0001067 ! Neurofibromas intersection_of: inheres_in FMA:13478 ! Vertebral column [Term] id: HP:0009736 ! Tibial pseudoarthrosis intersection_of: HP:0005864 ! Pseudoarthrosis intersection_of: inheres_in FMA:24476 ! Tibia [Term] id: HP:0009738 ! Abnormality of the antihelix intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:60995 ! Antihelix intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000849 ! Adrenocortical abnormality intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:15632 ! Adrenal cortex intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008182 ! Adrenocortical hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:15632 ! Adrenal cortex [Term] id: HP:0009739 ! Hypoplasia of the antihelix intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:60995 ! Antihelix [Term] id: HP:0009742 ! Stiff shoulders intersection_of: PATO:0001545 ! inflexible intersection_of: inheres_in FMA:25202 ! Shoulder [Term] id: HP:0009744 ! Abnormality of the spinal dura mater intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:71237 ! Spinal dura mater intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003214 ! Prolonged G2 phase of cell cycle intersection_of: PATO:0000498 ! increased duration intersection_of: inheres_in GO:0051319 ! G2 phase [Term] id: HP:0009746 ! Thick nasal septum intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:54375 ! Nasal septum [Term] id: HP:0009759 ! Neck pterygia intersection_of: HP:0001059 ! Pterygia intersection_of: inheres_in FMA:7155 ! Neck [Term] id: HP:0009765 ! Columella, low hanging intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in GO:0043674 ! columella [Term] id: HP:0000286 ! Epicanthus intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:59370 ! Palpebronasal fold [Term] id: HP:0007930 ! Prominent epicanthal folds intersection_of: HP:0003128 ! lactic acidemia intersection_of: qualifier PATO:0001482 ! prominent [Term] id: HP:0008598 ! Mild conductive hearing impairment intersection_of: HP:0000405 ! conductive hearing impairment intersection_of: qualifier PATO:0000394 ! mild [Term] id: HP:0004898 ! Persistent lactic acidosis intersection_of: HP:0003128 ! lactic acidemia intersection_of: qualifier PATO:0000689 ! continuous [Term] id: HP:0009791 ! Bifid sacrum intersection_of: PATO:0001572 ! bifid intersection_of: inheres_in FMA:16202 ! Sacrum [Term] id: HP:0009810 ! Abnormality of the joints of the upper limbs intersection_of: HP:0001367 ! Abnormality of the joints intersection_of: inheres_in FMA:7183 ! Upper limb [Term] id: HP:0009812 ! Amelia involving the upper limbs intersection_of: HP:0009827 ! Amelia intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0009813 ! Phocomelia involving the upper limbs intersection_of: HP:0009829 ! Phocomelia intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0009814 ! Peromelia involving the upper limbs intersection_of: HP:0009828 ! Peromelia intersection_of: inheres_in_part_of FMA:7183 ! Upper limb [Term] id: HP:0009818 ! Amelia involving the lower limbs intersection_of: HP:0009827 ! Amelia intersection_of: inheres_in_part_of FMA:7184 ! Lower limb [Term] id: HP:0009819 ! Phocomelia involving the lower limbs intersection_of: HP:0009829 ! Phocomelia intersection_of: inheres_in_part_of FMA:7184 ! Lower limb [Term] id: HP:0003252 ! Anteriorly displaced genitalia intersection_of: PATO:0001921 ! mislocalised anteriorly intersection_of: inheres_in FMA:7160 ! Genital system [Term] id: HP:0009820 ! Peromelia involving the lower limbs intersection_of: HP:0009828 ! Peromelia intersection_of: inheres_in_part_of FMA:7184 ! Lower limb [Term] id: HP:0001009 ! Telangiectasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia [Term] id: HP:0009893 ! Telangiectasia of the ear intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:52780 ! Ear [Term] id: HP:0002707 ! Palate telangiectasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:54549 ! Palate [Term] id: HP:0000214 ! Lip telangiectasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:59816 ! Lip [Term] id: HP:0000227 ! Tongue telangiectases intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:54640 ! Tongue [Term] id: HP:0007489 ! Diffuse telangiectasia intersection_of: HP:0001009 ! Telangiectasia intersection_of: qualifier PATO:0000635 ! unlocalised [Term] id: HP:0006555 ! Diffuse hepatic steatosis intersection_of: HP:0001397 ! Hepatic steatosis intersection_of: qualifier PATO:0000635 ! unlocalised [Term] id: HP:0001232 ! Nail bed telangiectases intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in UBERON:0005273 ! nail bed [Term] id: HP:0000524 ! Conjunctival telangiectasia intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:59011 ! Conjunctiva [Term] id: HP:0000509 ! conjunctivitis intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards MPATH:212 ! inflammation intersection_of: inheres_in FMA:59011 ! Conjunctiva [Term] id: HP:0100579 ! Mucosal telangiectasiae intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:85355 ! Mucosa [Term] id: HP:0000434 ! Nasal mucosa telangiectases intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:59684 ! Mucosa of nose [Term] id: HP:0007421 ! Telangiectases of the cheeks intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:24759 ! Skin of cheek [Term] id: HP:0100870 ! Teleangiectases of soles intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:37849 ! Skin of sole of foot [Term] id: HP:0100869 ! Teleangiectases of palms intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:476 ! telangiectasia intersection_of: inheres_in FMA:79170 ! Skin of palm proper [Term] id: HP:0007399 ! Telangiectases of palms and soles intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0100870 ! Teleangiectases of soles intersection_of: has_part HP:0100869 ! Teleangiectases of palms [Term] id: HP:0009894 ! Thickened ears intersection_of: PATO:0000591 ! increased thickness intersection_of: inheres_in FMA:52781 ! External ear [Term] id: HP:0009896 ! Abnormality of the antitragus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:61001 ! Antitragus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009904 ! Prominent ear helix intersection_of: HP:0000412 ! Prominent ears intersection_of: inheres_in FMA:60992 ! Helix [Term] id: HP:0009911 ! Abnormality of the temporal bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:52737 ! Temporal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009912 ! Abnormality of the tragus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:60998 ! Tragus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009913 ! Aplasia/Hypoplasia of the tragus intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:60998 ! Tragus [Term] id: HP:0009915 ! Asymmetry of the corneas intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:58238 ! Cornea [Term] id: HP:0009922 ! Persistence of the hyaloid artery intersection_of: PATO:0000082 ! persistence intersection_of: inheres_in FMA:77670 ! Hyaloid artery [Term] id: HP:0009924 ! Aplasia/Hypoplasia involving the nose intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:46472 ! Nose [Term] id: HP:0009929 ! Abnormality of the columella intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0043674 ! columella intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009930 ! Asymmetry of the nares intersection_of: PATO:0000616 ! asymmetrical intersection_of: inheres_in FMA:59645 ! External naris [Term] id: HP:0002086 ! Abnormality of the respiratory system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7158 ! Respiratory system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002715 ! Abnormality of the immune system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9825 ! Immune system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001871 ! Abnormality of the hematopoietic system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9667 ! Hematopoietic system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: _:long_metaphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:24014 ! Metaphysis [Term] id: _:flared_rib is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:7574 ! Rib [Term] id: HP:0004978 ! Splayed epiphyses and metaphyses intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0003015 ! Flared metaphyses intersection_of: has_part _:splayed_epiphysis [Term] id: HP:0200003 ! Splayed epiphyses intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: _:sclerotic_metaphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:24014 ! Metaphysis [Term] id: _:abnormal_distal_femoral_metaphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32881 ! Distal metaphysis of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: _:abnormal_proximal_femoral_metaphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:32878 ! Proximal metaphysis of femur intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: _:irregularly_ossified_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: inheres_in GO:0001503 ! ossification intersection_of: has_central_participant FMA:24012 ! Epiphysis [Term] id: _:irregular_distal_femoral_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:32844 ! Distal epiphysis of femur [Term] id: _:small_distal_femoral_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:32844 ! Distal epiphysis of femur [Term] id: _:irregular_proximal_femoral_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:32841 ! Proximal epiphysis of femur [Term] id: _:wide_femoral_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:32841 ! Proximal epiphysis of femur [Term] id: _:bent_long_bone is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000617 ! bent intersection_of: inheres_in FMA:7474 ! Long bone [Term] id: _:short_fourth_toe is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:25052 ! Fourth toe [Term] id: HP:0100042 ! Broad 4th toe intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:25052 ! Fourth toe [Term] id: HP:0010340 ! Polydactyly affecting the 4th toe intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards FMA:25052 ! Fourth toe intersection_of: inheres_in FMA:25046 ! Toe [Term] id: _:short_fifth_toe is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:25053 ! Little toe [Term] id: _:irregular_patella is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: inheres_in FMA:24485 ! Patella ! Similar case with many others - Chris needs to add these to the spatial ontology [Term] id: _:proximal_femoral_metaphysis is_anonymous: true intersection_of: PATO:0001195 ! proximal to intersection_of: inheres_in FMA:32875 ! Metaphysis of femur [Term] id: _:deformed_femoral_neck is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001617 ! deformed intersection_of: inheres_in FMA:42385 ! Neck of femur [Term] id: _:narrow_femoral_neck is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:42385 ! Neck of femur [Term] id: _:protruding_coccyx is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001598 ! protruding intersection_of: inheres_in FMA:20229 ! Coccyx [Term] id: _:prominent_coccyx is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:20229 ! Coccyx [Term] id: _:broad_diaphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000600 ! increased width intersection_of: inheres_in FMA:24013 ! Diaphysis [Term] id: _:poorly_ossified_cervical_vertebrae is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:ossification_of_cervical_vertebrae [Term] id: _:unossified_cervical_vertebra is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0001503 ! ossification intersection_of: inheres_in_part_of FMA:9915 ! Cervical vertebra intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: _:unossified_thoracic_vertebra is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards GO:0001503 ! ossification intersection_of: inheres_in_part_of FMA:9139 ! Thoracic vertebra intersection_of: inheres_in FMA:11945 ! Body of vertebra !not sure about this - probably wrong and def [Term] id: _:anterior_vertebrae is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001632 ! anterior to intersection_of: inheres_in FMA:9914 ! Vertebra !not sure about this - probably wrong and def [Term] id: _:posterior_vertebrae is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001633 ! posterior to intersection_of: inheres_in FMA:9914 ! Vertebra [Term] id: _:irregular_vertebrae is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000330 ! irregular spatial pattern intersection_of: inheres_in_part_of FMA:9914 ! Vertebra intersection_of: inheres_in FMA:11945 ! Body of vertebra [Term] id: _:craniofacial_sclerosis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001788 ! increased mass density intersection_of: qualifier PATO:0001869 ! pathological intersection_of: inheres_in FMA:53673 ! Viscerocranium [Term] id: _:straight_clavicles is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0002180 ! straight intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: _:thin_clavicles is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:13321 ! Clavicle [Term] id: _:flat_posterior_fossa is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0000407 ! flat intersection_of: inheres_in FMA:54368 ! Posterior cranial fossa ! not sure about this [Term] id: _:distal_set_of_muscles is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001234 ! distal to intersection_of: inheres_in FMA:260674 ! Musculature of body proper [Term] id: HP:0004986 ! Rudimentary to absent fibulae intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:24479 ! Fibula [Term] id: HP:0010625 ! Aplasia/Hypoplasia of the pituitary gland intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:13889 ! Pituitary gland [Term] id: HP:0010627 ! Hypoplasia of the pituitary gland intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:13889 ! Pituitary gland [Term] id: HP:0010647 ! Abnormality of skin texture intersection_of: PATO:0000150 ! texture intersection_of: inheres_in FMA:7163 ! Skin intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010892 ! Abnormality of branched chain family amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0009081 ! branched chain family amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004342 ! Abnormality of galactoside metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:galactoside_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004338 ! Abnormality of aromatic amino acid family metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0009072 ! aromatic amino acid family metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010965 ! Abnormality of phytanic acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:phytanic_acid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010969 ! Abnormality of glycolipid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:glycolipid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004359 ! Abnormality of fatty-acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:fatty_acid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010928 ! Abnormality of orotic acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:orotic_acid_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010967 ! Abnormality of carnitine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:carnitine_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011012 ! Abnormality of polysaccharide metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:polysaccharide_metabolism intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010893 ! Abnormality of phenylalanine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006558 ! L-phenylalanine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003231 ! Hypertyrosinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: towards CHEBI:18186 ! tyrosine intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0008158 ! Hyperapobetalipoproteinemia intersection_of: PATO:0000470 ! present in greater numbers in organism intersection_of: towards CHEBI:39026 ! low-density lipoprotein intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0000058 ! Abnormality of the labia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004084 ! labium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000168 ! Abnormality of the gingiva intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59762 ! Gingiva intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000235 ! Abnormality of the fontanelles and cranial sutures intersection_of: PATO:0000001 ! quality intersection_of: inheres_in _:fontanelle_and_cranial_suture intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000284 ! Abnormality of the ocular region intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004088 ! ocular region intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000309 ! Abnormality of the midface intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004089 ! midface intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000493 ! Abnormality of the fovea intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58658 ! Fovea centralis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000593 ! Abnormality of the anterior chamber intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58078 ! Anterior chamber of eyeball intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000606 ! Abnormality of the periorbital region intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59351 ! Periorbita intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000676 ! Abnormality of the incisor intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:12823 ! Incisor tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004092 ! hypothalamus-pituitary axis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001098 ! Abnormality of the fundus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0003951 ! ocular fundus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001211 ! Abnormality of the fingertips intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004093 ! fingertip intersection_of: qualifier PATO:0000460 ! abnormal ! note: 'arm' in FMA is actually upper arm. see uberon. -- CJM [Term] id: HP:0001454 ! Abnormality of the upper arm intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24890 ! Arm intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001560 ! Abnormality of the amniotic fluid intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0000173 ! amniotic fluid intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002118 ! Abnormality of the cerebral ventricles intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:78447 ! Region of ventricular system of brain intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002366 ! Abnormality of the lower motor neuron intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:84632 ! Lower motor neuron intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002492 ! Abnormality of the corticospinal tract intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004095 ! corticospinal tract intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003310 ! Abnormality of the odontoid process intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24043 ! Dens of axis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003832 ! Abnormality of the tibial plateaux intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004098 ! tibial plateaux intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003882 ! Slender humerus intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0003889 ! Abnormality of the deltoid tuberosities intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23418 ! Deltoid tuberosity of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003943 ! Abnormality of the joint spaces of the elbow intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004099 ! joint spaces of the elbow intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004035 ! Abnormality of the styloid process intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0003960 ! styloid process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004328 ! Abnormality of the anterior segment of the eye intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58865 ! Anterior segment of eyeball intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004329 ! Abnormality of the posterior segment of the eye intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58868 ! Posterior segment of eyeball intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004742 ! Abnormality of the renal collecting system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004100 ! renal collecting system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005289 ! Abnormality of the nasolabial region intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004101 ! nasolabial region intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005345 ! Abnormality of the vena cava intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004087 ! vena cava intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006802 ! Abnormality of the anterior horn cells intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000100 ! motor neuron intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009553 ! Abnormality of the hairline intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004104 ! hairline intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009591 ! Abnormality of the vestibulocochlear nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:50869 ! Vestibulocochlear nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009723 ! Abnormality of the subungual region intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004105 ! subungual region intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009895 ! Abnormality of the crus of the helix intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:61024 ! Crus of helical part of auricular cartilage intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010303 ! Abnormality of the spinal meninges intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0003292 ! meninx of spinal cord intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010438 ! Abnormality of the ventricular septum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7133 ! Interventricular septum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010461 ! Abnormality of the male genitalia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0000079 ! male reproductive system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010558 ! Abnormality of the clivus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004108 ! clivus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010640 ! Abnormality of the nasal cavity intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:54378 ! Nasal cavity intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010651 ! Abnormality of the meninges intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9589 ! Meninx intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010652 ! Abnormality of the dura mater intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9592 ! Dura mater intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010653 ! Abnormality of the falx cerebri intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:83967 ! Falx cerebri intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010662 ! Abnormality of the diencephalon intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:62001 ! Diencephalon intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010663 ! Abnormality of the thalamus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:62007 ! Thalamus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010668 ! Abnormality of the zygomatic bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:52747 ! Zygomatic bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010672 ! Abnormality of the 3rd metatarsal bone intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24504 ! Third metatarsal bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010748 ! Lacrimal Punctum, Ectopic intersection_of: PATO:0000140 ! position intersection_of: inheres_in FMA:59365 ! Lacrimal punctum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010758 ! Abnormality of the premaxilla intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:76869 ! Premaxilla intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010789 ! Abnormality of the Leydig cells intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:72297 ! Interstitial cell of Leydig intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010824 ! Abnormality of the fifth cranial nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:50866 ! Trigeminal nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010825 ! Abnormality of the eleventh cranial nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:80284 ! Cranial accessory nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010826 ! Abnormality of the twelfth cranial nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:50871 ! Hypoglossal nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010827 ! Abnormality of the seventh cranial nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:50868 ! Facial nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010881 ! Abnormality of the umbilical cord intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:85541 ! Umbilical cord intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100008 ! Abnormality of the Schwann Cells intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:62121 ! Schwann cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100016 ! Abnormality of the mesentery intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7144 ! Mesentery intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100037 ! Abnormality of the scalp hair intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:53667 ! Hair intersection_of: inheres_in_part_of FMA:46494 ! Scalp intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100106 ! Ivory epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100108 ! Small epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100100 ! Absent epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24012 ! Epiphysis intersection_of: inheres_in FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100101 ! Bracket epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100103 ! Enlarged epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100105 ! Irregular epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100102 ! Cone-shaped epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100109 ! Stippling of the epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100110 ! Triangular epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100104 ! Fragmentation of the epiphysis of the distal phalanx of the 2nd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100107 ! Pseudoepiphysis of the distal phalanx of the 2nd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32628 ! Distal phalanx of second toe [Term] id: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100117 ! Ivory epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100119 ! Small epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100111 ! Absent epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24012 ! Epiphysis intersection_of: inheres_in FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100112 ! Bracket epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100114 ! Enlarged epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100116 ! Irregular epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100113 ! Cone-shaped epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100120 ! Stippling of the epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100121 ! Triangular epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100115 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100118 ! Pseudoepiphysis of the middle phalanx of the 2nd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32623 ! Middle phalanx of second toe [Term] id: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100128 ! Ivory epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100130 ! Small epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100122 ! Absent epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: towards FMA:24012 ! Epiphysis intersection_of: inheres_in FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100123 ! Bracket epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100125 ! Enlarged epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100127 ! Irregular epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100124 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100131 ! Stippling of the epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100132 ! Triangular epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100126 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100129 ! Pseudoepiphysis of the proximal phalanx of the 2nd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32618 ! Proximal phalanx of second toe [Term] id: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100141 ! Ivory epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100143 ! Small epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100136 ! Bracket epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100138 ! Enlarged epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100140 ! Irregular epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100137 ! Cone-shaped epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100144 ! Stippling of the epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100145 ! Triangular epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100139 ! Fragmentation of the epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100142 ! Pseudoepiphysis of the distal phalanx of the 3rd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32629 ! Distal phalanx of third toe [Term] id: HP:0100135 ! Absent epiphysis of the distal phalanx of the 3rd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32629 ! Distal phalanx of third toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100152 ! Ivory epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100154 ! Small epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100147 ! Bracket epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100149 ! Enlarged epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100151 ! Irregular epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100148 ! Cone-shaped epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100155 ! Stippling of the epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100156 ! Triangular epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100150 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100153 ! Pseudoepiphysis of the middle phalanx of the 3rd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32624 ! Middle phalanx of third toe [Term] id: HP:0100146 ! Absent epiphysis of the middle phalanx of the 3rd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32624 ! Middle phalanx of third toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100163 ! Ivory epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100165 ! Small epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100158 ! Bracket epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100160 ! Enlarged epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100162 ! Irregular epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100159 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100166 ! Stippling of the epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100167 ! Triangular epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100161 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100164 ! Pseudoepiphysis of the proximal phalanx of the 3rd toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in_part_of FMA:32619 ! Proximal phalanx of third toe [Term] id: HP:0100157 ! Absent epiphysis of the proximal phalanx of the 3rd toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32619 ! Proximal phalanx of third toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100175 ! Ivory epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100177 ! Small epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100170 ! Bracket epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100172 ! Enlarged epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100174 ! Irregular epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100171 ! Cone-shaped epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100178 ! Stippling of the epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100179 ! Triangular epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100173 ! Fragmentation of the epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32630 ! Distal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100176 ! Pseudoepiphysis of the distal phalanx of the 4th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:32630 ! Distal phalanx of fourth toe [Term] id: HP:0100169 ! Absent epiphysis of the distal phalanx of the 4th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32630 ! Distal phalanx of fourth toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100186 ! Ivory epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100188 ! Small epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100181 ! Bracket epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100183 ! Enlarged epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100185 ! Irregular epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100182 ! Cone-shaped epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100189 ! Stippling of the epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100190 ! Triangular epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100184 ! Fragmentation of the epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32625 ! Middle phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100187 ! Pseudoepiphysis of the middle phalanx of the 4th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:32625 ! Middle phalanx of fourth toe [Term] id: HP:0100180 ! Absent epiphysis of the middle phalanx of the 4th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32625 ! Middle phalanx of fourth toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100197 ! Ivory epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100199 ! Small epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100192 ! Bracket epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100194 ! Enlarged epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100196 ! Irregular epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100193 ! Cone-shaped epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100200 ! Stippling of the epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100195 ! Fragmentation of the epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32620 ! Proximal phalanx of fourth toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100198 ! Pseudoepiphysis of the proximal phalanx of the 4th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:32620 ! Proximal phalanx of fourth toe [Term] id: HP:0100191 ! Absent epiphysis of the proximal phalanx of the 4th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32620 ! Proximal phalanx of fourth toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100208 ! Ivory epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100210 ! Small epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100203 ! Bracket epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100205 ! Enlarged epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100207 ! Irregular epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100204 ! Cone-shaped epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100211 ! Stippling of the epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100212 ! Triangular epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100206 ! Fragmentation of the epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32631 ! Distal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100209 ! Pseudoepiphysis of the distal phalanx of the 5th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:32631 ! Distal phalanx of little toe [Term] id: HP:0100202 ! Absent epiphysis of the distal phalanx of the 5th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32631 ! Distal phalanx of little toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100219 ! Ivory epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100221 ! Small epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100214 ! Bracket epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100216 ! Enlarged epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100218 ! Irregular epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100215 ! Cone-shaped epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100222 ! Stippling of the epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100223 ! Triangular epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100217 ! Fragmentation of the epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:230984 ! Middle phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100220 ! Pseudoepiphysis of the middle phalanx of the 5th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:230984 ! Middle phalanx of little toe [Term] id: HP:0100213 ! Absent epiphysis of the middle phalanx of the 5th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:230984 ! Middle phalanx of little toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24012 ! Epiphysis intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100230 ! Ivory epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0002149 ! ivory intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100232 ! Small epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0000587 ! decreased size intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100225 ! Bracket epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0002142 ! bracket intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100227 ! Enlarged epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100229 ! Irregular epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0002141 ! irregular density intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100226 ! Cone-shaped epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0002021 ! conical intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100233 ! Stippling of the epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0001512 ! punctate intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100234 ! Triangular epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0001875 ! triangular intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100228 ! Fragmentation of the epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0001444 ! broken intersection_of: inheres_in_part_of FMA:32621 ! Proximal phalanx of little toe intersection_of: inheres_in FMA:24012 ! Epiphysis [Term] id: HP:0100231 ! Pseudoepiphysis of the proximal phalanx of the 5th toe intersection_of: HP:0010584 ! Pseudoepiphyses intersection_of: inheres_in FMA:32621 ! Proximal phalanx of little toe [Term] id: HP:0100224 ! Absent epiphysis of the proximal phalanx of the 5th toe intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32621 ! Proximal phalanx of little toe intersection_of: towards FMA:24012 ! Epiphysis [Term] id: HP:0005541 ! Congenital agranulocytosis intersection_of: PATO:0002000 ! lacks all parts of type intersection_of: inheres_in FMA:32621 ! Proximal phalanx of little toe intersection_of: towards CL:0000094 ! granulocyte [Term] id: HP:0100133 ! Abnormality of the pubic hair intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:54319 ! Pubic hair intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100134 ! Abnormality of the axillary hair intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:54253 ! Hair of axilla intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100253 ! Abnormality of the medullary cavity of the long bones intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24023 ! Medullary cavity of long bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100261 ! Abnormality of the tendons intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9721 ! Tendon intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100321 ! Abnormality of the dentate nucleus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:72260 ! Dentate nucleus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0200005 ! Abnormal shape of the palpebral fissures intersection_of: PATO:0000052 ! shape intersection_of: inheres_in FMA:59110 ! Palpebral fissure intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010932 ! Abnormality of nucleobase metabolism intersection_of: PATO:0000052 ! shape intersection_of: inheres_in GO:0009112 ! nucleobase metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004447 ! Poikilocytosis intersection_of: PATO:0000052 ! shape intersection_of: inheres_in CL:0000232 ! erythrocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004823 ! anisopoikilocytosis intersection_of: PATO:0000117 ! size intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in CL:0000232 ! erythrocyte [Term] id: HP:0001120 ! Abnormality of corneal size or shape union_of: _:abnormal_cornea_size union_of: _:abnormal_cornea_shape ! this should be a named term in HPO [Term] id: _:abnormal_cornea_size is_anonymous: true intersection_of: PATO:0000117 ! size intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:58238 ! Cornea ! this should be a named term in HPO [Term] id: _:abnormal_cornea_shape is_anonymous: true intersection_of: PATO:0000052 ! shape intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:58238 ! Cornea [Term] id: HP:0100887 ! Abnormality of globe size intersection_of: PATO:0000117 ! size intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12513 ! Eyeball [Term] id: HP:0100886 ! Abnormality of globe location intersection_of: PATO:0000140 ! position intersection_of: inheres_in FMA:12513 ! Eyeball intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002648 ! Abnormality of skull shape intersection_of: PATO:0000052 ! shape intersection_of: inheres_in_part_of FMA:46565 ! Skull intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000268 ! Dolichocephaly intersection_of: PATO:0002043 ! increased anterior-posterior diameter intersection_of: inheres_in FMA:7154 ! Head [Term] id: HP:0200007 ! Abnormal size of the palpebral fissures intersection_of: PATO:0000117 ! size intersection_of: inheres_in FMA:59110 ! Palpebral fissure intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000357 ! Abnormal location of ears intersection_of: PATO:0000140 ! position intersection_of: inheres_in FMA:52780 ! Ear intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006347 ! Microdontia of primary teeth intersection_of: PATO:0000140 ! position intersection_of: inheres_in FMA:55637 ! Premolar tooth [Term] id: HP:0000987 ! Atypical scarring of skin intersection_of: PATO:0001850 ! scarred intersection_of: inheres_in FMA:7163 ! Skin [Term] id: HP:0000599 ! Abnormality of the frontal hairline intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0004104 ! hairline intersection_of: inheres_in_part_of FMA:74536 ! Frontal intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000816 ! Abnormality of Krebs cycle metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006099 ! tricarboxylic acid cycle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0001671 ! Abnormality of the cardiac septa intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7180 ! Cardiac septum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004365 ! Abnormality of tryptophan metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006568 ! tryptophan metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0006486 ! Abnormality of the dental root intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55624 ! Root of tooth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0008372 ! Abnormality of vitamin A metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006776 ! vitamin A metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24014 ! Metaphysis intersection_of: inheres_in_part_of FMA:7183 ! Upper limb intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010870 ! Abnormality of proprioception intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0019230 ! proprioception intersection_of: qualifier PATO:0000460 ! abnormal !!! merged_into HP:0010831 ! Impaired proprioception [Term] id: HP:0010894 ! Abnormality of serine family amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0009069 ! serine family amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010895 ! Abnormality of glycine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006544 ! glycine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010899 ! Abnormality of aspartate family amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0009066 ! aspartate family amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010900 ! Abnormality of threonine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006566 ! threonine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010901 ! Abnormality of methionine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006555 ! methionine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0200009 ! Abnormal size of corpus callosum intersection_of: PATO:0000117 ! size intersection_of: inheres_in FMA:86464 ! Corpus callosum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0200010 ! Abnormal thickness of corpus callosum intersection_of: PATO:0000915 ! thickness intersection_of: inheres_in FMA:86464 ! Corpus callosum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0200011 ! Abnormal length of corpus callosum intersection_of: PATO:0000122 ! length intersection_of: inheres_in FMA:86464 ! Corpus callosum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002514 ! Cerebral calcification intersection_of: PATO:0001447 ! calcified intersection_of: inheres_in FMA:50801 ! Brain [Term] id: HP:0000059 ! Hypoplastic labia majora intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:20367 ! Labium majus [Term] id: HP:0000063 ! Fused labia minora intersection_of: PATO:0000642 ! fused with intersection_of: inheres_in FMA:20374 ! Labium minus [Term] id: HP:0000064 ! Hypoplastic labia minora intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:20374 ! Labium minus [Term] id: HP:0000065 ! Labial hypertrophy intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in UBERON:0004084 ! labium [Term] id: HP:0000066 ! Labial hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in UBERON:0004084 ! labium [Term] id: HP:0000147 ! polycystic ovaries intersection_of: PATO:0002089 ! polycystic intersection_of: inheres_in FMA:7209 ! Ovary [Term] id: HP:0010620 ! Malar prominence intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in UBERON:0004089 ! midface [Term] id: HP:0000095 ! Morphological abnormalities of the glomeruli intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:15624 ! Glomerulus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010938 ! Abnormality of the external nose intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:59515 ! External nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000454 ! Flared nostrils intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:59645 ! External naris [Term] id: HP:0000856 ! Low parathyroid hormone intersection_of: PATO:0001163 ! decreased concentration intersection_of: inheres_in FMA:13890 ! Parathyroid gland intersection_of: towards CHEBI:24621 ! hormone !!! merged_into HP:0000829 ! Hypoparathyroidism [Term] id: HP:0000904 ! Flaring of rib cage intersection_of: PATO:0001785 ! splayed intersection_of: inheres_in FMA:7480 ! Rib cage [Term] id: HP:0001238 ! Slender fingers intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0100807 ! Long fingers intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0001166 ! Arachnodactyly intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001238 ! Slender fingers intersection_of: has_part _:long_fingers [Term] id: HP:0006125 ! Long tapered fingers intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0001182 ! Tapered fingers intersection_of: has_part _:long_fingers [Term] id: HP:0001373 ! Joint dislocation intersection_of: PATO:0001852 ! dislocated intersection_of: inheres_in FMA:7490 ! Joint [Term] id: HP:0001786 ! Slender feet intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0001831 ! Brachydactyly (feet) intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0100667 ! Brachydactyly (hand) intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:9666 ! Finger [Term] id: HP:0001836 ! Camptodactyly (feet) intersection_of: HP:0001371 ! Contractures intersection_of: inheres_in FMA:35225 ! Interphalangeal joint of toe [Term] id: HP:0001854 ! Gout (feet) intersection_of: HP:0001997 ! Gout intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0001859 ! Distal symphalangism (feet) intersection_of: HP:0100263 ! Distal symphalangism intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0001868 ! Autoamputation (feet) intersection_of: HP:0001218 ! Autoamputation intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0001870 ! Acroosteolysis of distal phalanges (feet) intersection_of: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes intersection_of: inheres_in FMA:9664 ! Foot [Term] id: HP:0002078 ! Truncal ataxia intersection_of: HP:0001251 ! Ataxia intersection_of: inheres_in FMA:7181 ! Trunk [Term] id: HP:0002493 ! Corticospinal tract dysfunction intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in UBERON:0004095 ! corticospinal tract [Term] id: HP:0001138 ! Optic neuropathy intersection_of: PATO:0001167 ! damaged intersection_of: inheres_in FMA:50863 ! Optic nerve [Term] id: HP:0003014 ! Short humeri intersection_of: PATO:0000574 ! decreased length intersection_of: inheres_in FMA:13303 ! Humerus [Term] id: HP:0002539 ! Cortical dysplasia intersection_of: PATO:0000640 ! dysplastic intersection_of: inheres_in FMA:61830 ! Cerebral cortex [Term] id: HP:0003890 ! Prominent deltoid tuberosities intersection_of: PATO:0001482 ! prominent intersection_of: inheres_in FMA:23418 ! Deltoid tuberosity of humerus [Term] id: HP:0003944 ! Narrow joint spaces of the elbow intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in UBERON:0004099 ! joint spaces of the elbow [Term] id: HP:0010811 ! Narrow uvula intersection_of: PATO:0000599 ! decreased width intersection_of: inheres_in FMA:55022 ! Uvula [Term] id: HP:0003969 ! Slender forearm bones intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in_part_of FMA:9663 ! Forearm intersection_of: inheres_in FMA:5018 ! Bone organ [Term] id: HP:0003920 ! Sloping humeral metaphysis intersection_of: PATO:0001481 ! sloped intersection_of: inheres_in FMA:32830 ! Metaphysis of humerus [Term] id: HP:0003934 ! Slender humeral diaphysis intersection_of: PATO:0000592 ! decreased thickness intersection_of: inheres_in FMA:13305 ! Diaphysis of humerus [Term] id: HP:0004036 ! Long styloid process intersection_of: PATO:0000573 ! increased length intersection_of: inheres_in UBERON:0003960 ! styloid process [Term] id: HP:0004785 ! Malrotation of colon intersection_of: HP:0002566 ! Intestinal malrotation intersection_of: inheres_in FMA:14543 ! Colon [Term] id: HP:0004794 ! Malrotation of small bowel intersection_of: HP:0002566 ! Intestinal malrotation intersection_of: inheres_in FMA:7200 ! Small intestine [Term] id: HP:0004991 ! rhizomelic arm shortening intersection_of: HP:0002968 ! Rhizomelic shortening intersection_of: inheres_in FMA:24890 ! Arm [Term] id: HP:0005305 ! Cerebral venous thrombosis intersection_of: HP:0001977 ! Thrombosis intersection_of: inheres_in FMA:50981 ! Cerebral vein [Term] id: HP:0006208 ! Metaphyseal cupping of proximal phalanges intersection_of: HP:0003021 ! Metaphyseal cupping intersection_of: inheres_in FMA:75828 ! Proximal phalanx of toe [Term] id: HP:0007016 ! Corticospinal tract hypoplasia intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in UBERON:0004095 ! corticospinal tract [Term] id: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of UBERON:0004095 ! corticospinal tract [Term] id: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts intersection_of: PATO:0001623 ! atrophied intersection_of: inheres_in_part_of UBERON:0004095 ! corticospinal tract [Term] id: HP:0007452 ! Midface capillary hemangioma intersection_of: HP:0005306 ! Capillary hemangiomas intersection_of: inheres_in UBERON:0004089 ! midface [Term] id: HP:0007699 ! Anterior chamber malformation intersection_of: PATO:0000646 ! malformed intersection_of: inheres_in FMA:58078 ! Anterior chamber of eyeball !!! merged_into HP:0007700 ! Anterior segment dysgenesis [Term] id: HP:0007766 ! Hypoplastic optic disks intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:58634 ! Optic disc [Term] id: HP:0007779 ! Anterior segment of eye aplasia intersection_of: PATO:0001483 ! aplastic intersection_of: inheres_in FMA:58865 ! Anterior segment of eyeball [Term] id: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of UBERON:0003951 ! ocular fundus [Term] id: HP:0007894 ! Hypopigmentation of the fundus intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:fundus_pigmentation [Term] id: HP:0008000 ! Decreased corneal reflex intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in _:corneal_reflex [Term] id: _:corneal_reflex is_anonymous: true intersection_of: GO:0060004 ! reflex intersection_of: has_central_participant FMA:58238 ! Cornea [Term] id: HP:0008060 ! Aplasia/Hypoplasia of the fovea intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in FMA:58658 ! Fovea centralis [Term] id: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye intersection_of: PATO:0002290 ! aplastic/hypoplastic intersection_of: inheres_in_part_of FMA:58865 ! Anterior segment of eyeball [Term] id: HP:0008208 ! Parathyroid hyperplasia intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:13890 ! Parathyroid gland [Term] id: HP:0006560 ! Biliary hyperplasia, extrahepatic and intrahepatic intersection_of: PATO:0000644 ! hyperplastic intersection_of: inheres_in FMA:14665 ! Biliary tree [Term] id: HP:0008491 ! Premature anterior fontanel closure intersection_of: PATO:0002166 ! premature closure intersection_of: inheres_in FMA:75439 ! Anterior fontanelle [Term] id: HP:0008683 ! Enlarged labia minora intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:20374 ! Labium minus [Term] id: HP:0008694 ! Hypertrophic labia minora intersection_of: PATO:0000584 ! hypertrophic intersection_of: inheres_in FMA:20374 ! Labium minus [Term] id: HP:0009720 ! Adenoma sebaceum intersection_of: HP:0010615 ! Angiofibromas intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0009762 ! Facial wrinkling intersection_of: PATO:0001810 ! wrinkled intersection_of: inheres_in FMA:24728 ! Face [Term] id: HP:0009898 ! Hypoplasia of the crus of the ear intersection_of: PATO:0000645 ! hypoplastic intersection_of: inheres_in FMA:61024 ! Crus of helical part of auricular cartilage [Term] id: HP:0010559 ! Vertical clivus intersection_of: PATO:0001854 ! vertical intersection_of: inheres_in UBERON:0004108 ! clivus [Term] id: HP:0010621 ! Cutaneous syndactyly of the toes intersection_of: HP:0010554 ! Cutaneous syndactyly of the fingers intersection_of: inheres_in FMA:25046 ! Toe [Term] id: HP:0010629 ! Abnormality of the cortex of the humerus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of FMA:31542 ! Compact bone of humerus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010641 ! Abnormality of the midnasal cavity intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of UBERON:0004110 ! midnasal cavity intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0000853 ! Goiter intersection_of: PATO:0000586 ! increased size intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0000821 ! Hypothyroidism intersection_of: PATO:0001624 ! decreased functionality intersection_of: inheres_in FMA:9603 ! Thyroid gland [Term] id: HP:0003161 ! 4-Hydroxyphenylpyruvic aciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:15999 ! 4-Hydroxyphenylpyruvic acid [Term] id: HP:0003568 ! Decreased glucosephosphate isomerase activity intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in GO:0004347 ! glucose-6-phosphate isomerase activity [Term] id: HP:0003113 ! Hypochloremia intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17996 ! chloride (1-) [Term] id: HP:0003219 ! Ethylmalonic aciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:741548 ! ethylmalonic acid [Term] id: HP:0010896 ! Hypersarcosinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:15611 ! sarcosine [Term] id: HP:0003643 ! Sulfite oxidase deficiency intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0008482 ! sulfite oxidase activity [Term] id: HP:0010904 ! Abnormality of histidine family amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0009075 ! histidine family amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010905 ! Abnormality of histidine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006547 ! histidine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010906 ! Hyperhistidinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:27570 ! histidine [Term] id: HP:0010907 ! Abnormality of proline metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006560 ! proline metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010908 ! Abnormality of lysine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006553 ! lysine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010909 ! Abnormality of arginine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006525 ! arginine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010910 ! Hypervalinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:27266 ! valine [Term] id: HP:0010911 ! Hyperleucinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:25017 ! leucine [Term] id: HP:0010912 ! Abnormality of isoleucine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006549 ! isoleucine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010913 ! Hyperisoleucinemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:24898 ! isoleucine [Term] id: HP:0010915 ! Abnormality of pyruvate family amino acid metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0009078 ! pyruvate family amino acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010916 ! Abnormality of alanine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006522 ! alanine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0004923 ! Hyperphenylalaninemia intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:28044 ! phenylalanine [Term] id: HP:0005982 ! Reduced phenylalanine hydroxylase activity intersection_of: PATO:0002302 ! decreased process quality intersection_of: inheres_in GO:0004505 ! phenylalanine 4-monooxygenase activity [Term] id: HP:0010917 ! Abnormality of tyrosine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006570 ! tyrosine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010918 ! Abnormality of cysteine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006534 ! cysteine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010919 ! Abnormality of homocysteine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0050667 ! homocysteine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010903 ! Abnormality of glutamine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006541 ! glutamine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002156 ! Homocystinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:17485 ! homocystine [Term] id: HP:0010979 ! Abnormality of the circulating level of lipoprotein cholesterol intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:50404 ! lipoprotein cholesterol intersection_of: inheres_in FMA:9670 ! Portion of blood [Term] id: HP:0010931 ! Abnormality of sodium homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:29101 ! sodium [Term] id: HP:0010569 ! Elevated 7-dehydrocholesterol intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17759 ! cholesta-5,7-dien-3beta-ol [Term] id: HP:0003124 ! Hypercholesterolemia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16113 ! cholesterol [Term] id: HP:0000408 ! Progressive sensorineural hearing impairment intersection_of: HP:0000407 ! sensorineural hearing impairment intersection_of: qualifier PATO:0001818 ! progressive [Term] id: HP:0008584 ! Progressive high-frequency hearing loss intersection_of: HP:0005101 ! high-frequency hearing impairment intersection_of: qualifier PATO:0001818 ! progressive !!! merged_into HP:0005101 ! High-frequency hearing impairment [Term] id: HP:0003566 ! Increased serum prostaglandin E2 intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:15551 ! prostaglandin E2 [Term] id: HP:0003527 ! Hyperprostaglandinuria intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26333 ! prostaglandin [Term] id: HP:0002157 ! Azotemia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:51143 ! nitrogen compounds [Term] id: HP:0011015 ! Abnormality of blood glucose concentration intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17234 ! glucose [Term] id: HP:0011043 ! Abnormality of circulating adrenocorticotropin level intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:3892 ! corticotropin [Term] id: HP:0004361 ! Abnormality of circulating leptin level intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000009758 ! leptin [Term] id: HP:0010836 ! Abnormality of copper homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:28694 ! copper [Term] id: HP:0100529 ! Abnormality of phosphate homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:26020 ! phosphate [Term] id: HP:0001336 ! Myoclonus intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000671 ! myoclonic seizure [Term] id: HP:0010897 ! Hypersarcosinuria intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:15611 ! sarcosine [Term] id: HP:0011031 ! Abnormality of iron homeostasis intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: towards CHEBI:24875 ! iron cation [Term] id: HP:0011016 ! Abnormality of urine glucose concentration intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:17234 ! glucose [Term] id: HP:0003117 ! Abnormality of circulating hormone level intersection_of: PATO:0000033 ! concentration of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:24621 ! hormone [Term] id: HP:0003076 ! Glycosuria intersection_of: PATO:0001162 ! increased concentration intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:17234 ! glucose [Term] id: HP:0010471 ! Oligosacchariduria intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:50699 ! Oligosaccharide [Term] id: HP:0001987 ! Hyperammonemia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16134 ! ammonia [Term] id: HP:0100493 ! Hypoammonemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:16134 ! ammonia [Term] id: HP:0003073 ! Hypoalbuminemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards PR:000003918 ! albumin [Term] id: HP:0003215 ! Dicarboxylic aciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:35692 ! dicarboxylic acid [Term] id: HP:0003150 ! Glutaric aciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:17859 ! glutaric acid [Term] id: HP:0003530 ! Glutaric acidemia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:17859 ! glutaric acid [Term] id: HP:0003607 ! 4-Hydroxyphenylacetic aciduria intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:12274 ! Portion of urine intersection_of: towards CHEBI:18101 ! 4-Hydroxyphenylacetic acid [Term] id: HP:0010839 ! Increased urinary copper concentration intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:28694 ! copper [Term] id: HP:0002918 ! Hypermagnesemia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:25107 ! magnesium [Term] id: HP:0002917 ! Hypomagnesemia intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:25107 ! magnesium [Term] id: HP:0003228 ! Hypernatremia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26708 ! sodium [Term] id: HP:0002902 ! Hyponatremia intersection_of: PATO:0001163 ! decreased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26708 ! sodium [Term] id: HP:0002153 ! Hyperkalemia intersection_of: PATO:0001162 ! increased concentration intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in FMA:9670 ! Portion of blood intersection_of: towards CHEBI:26216 ! potassium [Term] id: HP:0002666 ! Pheochromocytoma intersection_of: PATO:0002002 ! having extra physical parts intersection_of: towards MPATH:377 ! pheochromocytoma ! BEHAVIOUR [Term] id: HP:0000639 ! Nystagmus intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000417 ! physiologic nystagmus [Term] id: HP:0007670 ! Abnormal vestibuloocular reflex intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000416 ! vestibulo-ocular reflex [Term] id: HP:0000718 ! Aggressive behavior intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000015 ! aggressive behaviour [Term] id: HP:0008760 ! Violent behavior intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000120 ! physical aggression behaviour [Term] id: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior union_of: HP:0000718 ! Aggressive behavior union_of: HP:0008760 ! Violent behavior union_of: HP:0100710 ! Impulsivity [Term] id: HP:0000713 ! agitation intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000129 ! agitation [Term] id: HP:0000756 ! Agoraphobia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000096 ! Agoraphobia [Term] id: HP:0000739 ! anxiety intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000092 ! anxiety-related behaviou [Term] id: HP:0000740 ! Anxiety (with pheochromocytoma) intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0000739 ! anxiety intersection_of: has_part HP:0002666 ! Pheochromocytoma [Term] id: HP:0000741 ! apathy intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000602 ! apathy [Term] id: HP:0003763 ! Bruxism intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000420 ! bruxism [Term] id: HP:0000708 ! Behavioral disturbances intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000313 ! behavioural physiology [Term] id: HP:0007302 ! Bipolar affective disorder intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000258 ! bipolar disorder [Term] id: HP:0000746 ! delusion intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000603 ! delusion [Term] id: HP:0000726 ! dementia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000268 ! dementia [Term] id: HP:0000716 ! depression intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000515 ! depressive disorder [Term] id: HP:0000734 ! Disinhibition intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in NBO:0000604 ! social inhibition [Term] id: HP:0000719 ! Inappropriate behavior intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000604 ! social inhibition [Term] id: HP:0008768 ! Inappropriate sexual behavior intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000605 ! sexual inhibition [Term] id: HP:0000747 ! forgetfulness intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000606 ! forgetfulness !!! merged_into HP:0002354 ! Memory impairment [Term] id: HP:0007017 ! Progressive forgetfulness intersection_of: PATO:0001818 ! progressive intersection_of: inheres_in NBO:0000606 ! forgetfulness [Term] id: HP:0008765 ! Visual hallucinations intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000609 ! visual hallucination [Term] id: HP:0002367 ! Auditory hallucinations intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000610 ! auditory hallucination [Term] id: HP:0000714 ! Auditory and visual halucinations intersection_of: PATO:0000001 ! quality intersection_of: has_part HP:0008765 ! Visual hallucinations intersection_of: has_part HP:0002367 ! Auditory hallucinations [Term] id: HP:0000752 ! hyperactivity intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000030 ! hyperactivity [Term] id: HP:0000735 ! Impaired social interactions intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in NBO:0000011 ! social behaviour [Term] id: HP:0000728 ! Impaired ability to form peer relationships intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in NBO:0000043 ! bonding behaviour [Term] id: HP:0002332 ! Lack of peer relationships intersection_of: PATO:0001558 ! lacking processual parts intersection_of: towards NBO:0000043 ! bonding behaviour [Term] id: HP:0008763 ! No social interaction intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in NBO:0000011 ! social behaviour [Term] id: HP:0000817 ! Poor eye contact intersection_of: PATO:0000911 ! decreased rate intersection_of: inheres_in NBO:0000616 ! eye contact [Term] id: HP:0000748 ! Inappropriate laughter intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000617 ! laughing behaviour [Term] id: HP:0000737 ! irritability intersection_of: PATO:0000001 ! quality intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in NBO:0000128 ! irritability [Term] id: HP:0000757 ! Lack of insight intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in NBO:0000619 ! insight [Term] id: HP:0000745 ! Lack of motivation intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in NBO:0000233 ! motivation related behaviour [Term] id: HP:0000721 ! Lack of spontaneous play intersection_of: PATO:0001558 ! lacking processual parts intersection_of: inheres_in NBO:0000075 ! playing behaviour [Term] id: HP:0000744 ! Low frustration tolerance intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in NBO:0000620 ! frustration [Term] id: HP:0002300 ! mutism intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000621 ! selective mutism [Term] id: HP:0000722 ! Obsessive-compulsive disorder intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000248 ! obsessive-compulsive disorder [Term] id: HP:0000751 ! Personality changes intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000265 ! personality disorder [Term] id: HP:0000709 ! psychotic disorder intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000259 ! psychotic disorder [Term] id: HP:0000711 ! Restlessness intersection_of: PATO:0000912 ! increased rate intersection_of: inheres_in NBO:0000129 ! agitation [Term] id: HP:0000736 ! Short attention span intersection_of: PATO:0000499 ! decreased duration intersection_of: inheres_in NBO:0000455 ! attention [Term] id: HP:0000733 ! Stereotyped, repetitive behaviour intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000567 ! stereotypic behavior [Term] id: HP:0002121 ! absence seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000669 ! absence seizure [Term] id: HP:0007270 ! Atypical absence seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000702 ! atypical absence seizure [Term] id: HP:0002373 ! Febrile seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000678 ! febrile seizure [Term] id: HP:0002266 ! Focal clonic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000651 ! simple partial seizure with motor signs [Term] id: HP:0006813 ! Unilateral clonic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000731 ! hemiclonic seizure [Term] id: HP:0002197 ! Generalized seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000662 ! generalized seizure [Term] id: HP:0002069 ! Generalized tonic-clonic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000676 ! tonic clonic seizure [Term] id: HP:0001250 ! seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000012 ! seizures/epilepsy ! These need to be merged [Term] id: HP:0011097 ! Infantile spasms intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000734 ! infantile spasm [Term] id: HP:0002123 ! Generalized myoclonic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000671 ! myoclonic seizure ! This should be a named term in HPO [Term] id: _:frequent_myoclonic_seizure is_anonymous: true intersection_of: PATO:0000380 ! increased frequency intersection_of: inheres_in NBO:0000671 ! myoclonic seizure ! This should be a named term in HPO [Term] id: _:long_lasting_myoclonic_seizure is_anonymous: true intersection_of: PATO:0000498 ! increased duration intersection_of: inheres_in NBO:0000671 ! myoclonic seizure [Term] id: HP:0007359 ! Partial seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000646 ! partial seizure [Term] id: HP:0002384 ! Complex partial seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000648 ! complex partial seizure [Term] id: HP:0007334 ! Partial seizures with secondary generalization intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000663 ! partial seizures evolving to secondarily generalized seizures [Term] id: HP:0002349 ! Simple partial seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000647 ! simple partial seizure [Term] id: HP:0002133 ! Status epilepticus intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000690 ! status epilepticus [Term] id: HP:0002173 ! Seizures, hypoglycemic intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000712 ! hypoglycemia induced seizure [Term] id: HP:0010310 ! chylothorax intersection_of: PATO:0001450 ! edematous intersection_of: inheres_in FMA:7565 ! Thoracic cavity [Term] id: HP:0002199 ! Seizures due to hypocalcemia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: inheres_in NBO:0000735 ! hypocalcemia induced seizure [Term] id: HP:0002434 ! Secondary generalization may occur intersection_of: PATO:0000427 ! recurrent intersection_of: inheres_in NBO:0000735 ! secondary generalized seizure [Term] id: HP:0003198 ! Myopathy intersection_of: PATO:0001167 ! damaged intersection_of: inheres_in FMA:32558 ! Musculature [Term] id: HP:0006779 ! Alveolar rhabdomyosarcoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:709 ! Alveolar rhabdomyosarcoma [Term] id: HP:0006743 ! Embryonal rhabdomyosarcoma intersection_of: PATO:0002002 ! has extra parts of type intersection_of: towards MPATH:710 ! Embryonal rhabdomyosarcoma [Term] id: HP:0001327 ! Photomyoclonic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000737 ! photostimulation induced seizure [Term] id: HP:0010818 ! Tonic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000677 ! tonic seizure [Term] id: HP:0010819 ! Atonic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000670 ! atonic seizure [Term] id: HP:0010821 ! Gelastic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000738 ! gelastic epilepsy [Term] id: HP:0010820 ! Dacrystic seizures intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000739 ! dacrystic epilepsy [Term] id: HP:0010529 ! echolalia intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000623 ! echolalia [Term] id: HP:0000738 ! hallucinations intersection_of: PATO:0001561 ! having extra processual parts intersection_of: towards NBO:0000608 ! hallucination [Term] id: HP:0100710 ! Impulsivity intersection_of: PATO:0000001 ! quality intersection_of: inheres_in NBO:0000119 ! impulsive behavior intersection_of: qualifier PATO:0000460 ! abnormal !! Latest Obol results (conservative, vetted) 2011-07-09 !! Latest Obol 2012-11-03 [Term] id: HP:0000190 ! Abnormality of oral frenula intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:54659 ! Frenulum of tongue intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002056 ! Abnormality of the glabella intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:52851 ! Glabella intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0002269 ! Abnormality of neuronal migration intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0001764 ! neuron migration intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0003133 ! Abnormality of the spinocerebellar tracts intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0005413 ! spinocerebellar tract intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010754 ! Abnormality of the temperomandibular joint intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:54832 ! Temporomandibular joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010936 ! Abnormality of the lower urinary tract intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:45659 ! Lower urinary tract intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010994 ! Abnormality of the striatum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:77618 ! Striatum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011103 ! Abnormality of the left ventricular outflow tract intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9473 ! Outflow part of left ventricle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011113 ! Abnormality of cytokine secretion intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0050663 ! cytokine secretion intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011115 ! Abnormality of chemokine secretion intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0090195 ! chemokine secretion intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011119 ! Abnormality of the nasal dorsum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59517 ! Dorsum of nose intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011121 ! Abnormality of skin morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:7163 ! Skin intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011218 ! Abnormal shape of the frontal region intersection_of: PATO:0000052 ! shape intersection_of: inheres_in FMA:61824 ! Frontal lobe intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011282 ! Abnormality of the hindbrain intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:67687 ! Hindbrain intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011283 ! Abnormality of the metencephalon intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:62003 ! Metencephalon intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011297 ! Abnormality of the digits intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:85518 ! digit intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011314 ! Abnormality of long bone morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:7474 ! Long bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011328 ! Abnormality of fontanelles intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:75438 ! Fontanelle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011329 ! Abnormality of cranial sutures intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7493 ! Suture intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011337 ! Abnormality of mouth size intersection_of: PATO:0000117 ! size intersection_of: inheres_in_part_of FMA:49184 ! Mouth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011338 ! Abnormality of mouth shape intersection_of: PATO:0000052 ! shape intersection_of: inheres_in_part_of FMA:49184 ! Mouth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011348 ! Abnormality of the sixth cranial nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:50867 ! Abducens nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011384 ! Abnormality of the internal auditory canal intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:53163 ! Internal acoustic meatus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011392 ! Abnormality of the vestibular nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:53401 ! Vestibular nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011396 ! Abnormality of the cochlear nerve intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:53431 ! Cochlear nerve intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011397 ! Abnormality of the dorsal column of the spinal cord intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0005373 ! spinal cord dorsal column intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011409 ! Abnormality of placental membranes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0009002 ! placental membrane intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011441 ! Abnormality of the medulla oblongata intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:62004 ! Medulla oblongata intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011453 ! Abnormality of the incus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:52752 ! Incus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011454 ! Abnormality of the malleus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:52753 ! Malleus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011479 ! Abnormality of the lacrimal punctum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59365 ! Lacrimal punctum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011481 ! Abnormality of the lacrimal duct intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:61063 ! Lacrimal duct intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011482 ! Abnormality of the lacrimal gland intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59101 ! Lacrimal gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011488 ! Abnormality of corneal endothelium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:63882 ! Corneal endothelium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011490 ! Abnormality of Descemet's membrane intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58309 ! Posterior limiting lamina of cornea intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011492 ! Abnormality of corneal stroma intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58306 ! Substantia propria of cornea intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011495 ! Abnormality of corneal epithelium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:58263 ! Corneal epithelium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011526 ! Abnormality of lens shape intersection_of: PATO:0000052 ! shape intersection_of: inheres_in FMA:58241 ! Lens intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011642 ! Abnormality of the coronary sinus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:4706 ! Coronary sinus intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011718 ! Abnormality of the pulmonary veins intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:66643 ! Pulmonary vein intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011729 ! Abnormality of joint mobility intersection_of: PATO:0000004 ! mobility intersection_of: inheres_in_part_of FMA:7490 ! Joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011747 ! Abnormality of the anterior pituitary intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:74627 ! Adenohypophysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011751 ! Abnormality of the posterior pituitary intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:74636 ! Neural lobe of neurohypophysis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011766 ! Abnormality of the parathyroid morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:13890 ! Parathyroid gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011772 ! Abnormality of thyroid morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:9603 ! Thyroid gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011805 ! Abnormality of muscle morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of FMA:30316 ! muscle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011821 ! Abnormality of facial skeleton intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:53673 ! Viscerocranium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011867 ! Abnormality of the wing of the ilium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:42826 ! Ala of ilium intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100339 ! Abnormality of the os naviculare pedis intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24499 ! Navicular bone of foot intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100508 ! Abnormality of vitamin metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006766 ! vitamin metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100509 ! Abnormality of vitamin C metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0019852 ! L-ascorbic acid metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100511 ! Abnormality of vitamin D metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0042359 ! vitamin D metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100514 ! Abnormality of vitamin E metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0042360 ! vitamin E metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100623 ! Abnormality of corpus cavernosum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0006609 ! corpus cavernosum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100643 ! Abnormality of nail color intersection_of: PATO:0000014 ! color intersection_of: inheres_in_part_of FMA:54326 ! Nail intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100671 ! Abnormal trabecular bone morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in UBERON:0008867 ! trabecular network of bone intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100691 ! Abnormality of the curvature of the cornea intersection_of: PATO:0001591 ! curvature intersection_of: inheres_in_part_of FMA:58238 ! Cornea intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100705 ! Abnormality of the glial cells intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000125 ! glial cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100706 ! Abnormality of the oligodendroglia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:83665 ! Oligodendroglia intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100707 ! Abnormality of the astrocytes intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000127 ! astrocyte intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100708 ! Abnormality of the microglia intersection_of: PATO:0000001 ! quality intersection_of: inheres_in CL:0000129 ! microglial cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100711 ! Abnormality of the thoracic spine intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9140 ! Thoracic vertebral column intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100712 ! Abnormality of the lumbar spine intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:16203 ! Lumbar vertebral column intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100717 ! Abnormality of the cementum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55630 ! Cement intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100722 ! Abnormality of the mediastinum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9826 ! Mediastinum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100736 ! Abnormality of the soft palate intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55021 ! Soft palate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100737 ! Abnormality of the hard palate intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:55023 ! Hard palate intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100744 ! Abnormality of the humeroradial joint intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:38855 ! Humeroradial joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100745 ! Abnormality of the humeroulnar joint intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:38854 ! Humeroulnar joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100755 ! Abnormality of salivation intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0046541 ! saliva secretion intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100763 ! Abnormality of the lymphatic system intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7162 ! Lymphatic system intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100765 ! Abnormality of the tonsils intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:9609 ! Tonsil intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100766 ! Abnormality of the lymphatic vessels intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:30315 ! Lymphatic vessel intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100767 ! Abnormality of the placenta intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:63934 ! Placenta intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100781 ! Abnormality of the sacroiliac joint intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:21440 ! Sacro-iliac joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100831 ! Abnormality of vitamin K metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0042373 ! vitamin K metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100871 ! Abnormality of the palm intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:24920 ! Palm intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100872 ! Abnormality of the plantar part of foot intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:25000 ! Plantar part of foot intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100889 ! Abnormality of the ductus choledochus intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:14667 ! Common bile duct intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100892 ! Abnormality of the xiphoid process intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:7488 ! Xiphoid process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0100957 ! Abnormality of the renal medulla intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:258870 ! Renal pyramid intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0010813 ! Abnormal number of hair whorls intersection_of: PATO:0001555 ! has number of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in UBERON:0014381 ! whorl of hair [Term] id: HP:0010831 ! Impaired proprioception intersection_of: PATO:0001507 ! disrupted intersection_of: inheres_in GO:0019230 ! proprioception intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011044 ! Abnormal number of permanent teeth intersection_of: PATO:0000070 ! count intersection_of: inheres_in FMA:75152 ! Secondary dentition intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011130 ! Abnormality of renal calyx morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in UBERON:0006517 ! kidney calyx intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011357 ! Abnormality of hair density intersection_of: PATO:0001019 ! mass density intersection_of: inheres_in FMA:53667 ! Hair intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011732 ! Abnormality of adrenal morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:9604 ! Adrenal gland intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011830 ! Abnormality of oral mucosa intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:59660 ! Mucosa of mouth intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011839 ! Abnormality of T cell number intersection_of: PATO:0001555 ! has number of intersection_of: qualifier PATO:0000460 ! abnormal intersection_of: inheres_in CL:0000084 ! T cell [Term] id: HP:0100587 ! Abnormality of the preputium intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:19639 ! Prepuce of penis intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0005561 ! Abnormality of bone marrow cell morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in CL:0002092 ! bone marrow cell intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011911 ! Abnormality of metacarpophalangeal joint intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:35246 ! Metacarpophalangeal joint intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011912 ! Abnormality of the glenoid fossa intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:23275 ! Glenoid fossa intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011931 ! Abnormality of the cerebellar peduncle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0007416 ! cerebellar peduncle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011932 ! Abnormality of the superior cerebellar peduncle intersection_of: PATO:0000001 ! quality intersection_of: inheres_in FMA:72495 ! Superior cerebellar peduncle intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011965 ! Abnormality of citrulline metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0000052 ! citrulline metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011992 ! Abnormality of neutrophil morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in_part_of CL:0000775 ! neutrophil intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0011994 ! Abnormality of the atrial septum intersection_of: PATO:0000001 ! quality intersection_of: inheres_in UBERON:0002085 ! interatrial septum intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0012025 ! Abnormality of ornithine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006591 ! ornithine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0012084 ! Abnormality of skeletal muscle fiber size intersection_of: PATO:0000117 ! size intersection_of: inheres_in_part_of CL:0002372 ! myotube intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0012090 ! Abnormality of pancreas morphology intersection_of: PATO:0000051 ! morphology intersection_of: inheres_in FMA:7198 ! Pancreas intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0012103 ! Abnormality of the mitochondrion intersection_of: PATO:0000001 ! quality intersection_of: inheres_in_part_of GO:0005739 ! mitochondrion intersection_of: qualifier PATO:0000460 ! abnormal [Term] id: HP:0012113 ! Abnormality of creatine metabolism intersection_of: PATO:0000001 ! quality intersection_of: inheres_in GO:0006600 ! creatine metabolic process intersection_of: qualifier PATO:0000460 ! abnormal ! Needs verified - see also MP:0002412 ! increased susceptibility to bacterial infection [Term] id: HP:0002718 ! Recurrent bacterial infections intersection_of: PATO:0001669 ! increased susceptibility toward intersection_of: towards GO:0042742 ! defense response to bacterium ! not sure about this [Term] id: _:distal_muscle is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001234 ! distal to intersection_of: inheres_in FMA:5022 ! Muscle organ ! not sure about all these ...... we need to be able to use BSPO here [Term] id: _:proximal_muscle is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001195 ! proximal to intersection_of: inheres_in FMA:5022 ! Muscle organ [Term] id: _:proximal_tibia is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001195 ! proximal to intersection_of: inheres_in FMA:24476 ! Tibia [Term] id: _:proximal_femoral_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001195 ! proximal to intersection_of: inheres_in FMA:32838 ! Epiphysis of femur [Term] id: _:distal_limb_muscle is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001234 ! distal to intersection_of: inheres_in FMA:50188 ! Musculature of limb [Term] id: _:distal_lower_limb_muscle is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001234 ! distal to intersection_of: inheres_in FMA:71297 ! Musculature of lower limb [Term] id: _:proximal_limb_muscle is_anonymous: true is_a: _:temp_term_holder intersection_of: PATO:0001195 ! proximal to intersection_of: inheres_in FMA:50188 ! Musculature of limb [Typedef] id: qualifier name: qualifier comment: placeholder relation to indicate normality/abnormality. xref: RO:0002180 [Typedef] id: has_central_participant name: has_central_participant ! map this to 'depends on' [Typedef] id: towards name: towards xref: BFO:0000070 [Typedef] id: part_of name: part of xref: BFO:0000050 [Typedef] id: has_part name: has part xref: BFO:0000051 [Typedef] id: contained_in name: contained in [Typedef] id: during name: during [Typedef] id: results_in name: results in [Typedef] id: occurs_in name: occurs in xref: BFO:0000066 [Typedef] id: inheres_in_part_of name: inheres in part of holds_over_chain: inheres_in part_of xref: RO:0002314 [Typedef] id: inheres_in name: inheres in is_a: inheres_in_part_of xref: BFO:0000052 ![Typedef] !id: has_granular_part !name: has granular part !xref: BFO:0000071 ! ![Typedef] !id: bearer_of !name: bearer of !xref: BFO:0000053 ! ![Typedef] !id: phenotype_of !name: phenotype of !xref: RO:0002201 [Typedef] id: has_participant name: has participant xref: BFO:0000057 [Typedef] id: adjacent_to name: adjacent_to !!!!! GO cross products [Term] id: _:alkaline_phosphatase_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant PR:000003968 ! alkaline phosphatase, tissue-nonspecific isozyme [Term] id: _:ossification_of_cervical_vertebrae is_anonymous: true is_a: _:temp_term_holder intersection_of: GO:0001503 ! ossification intersection_of: has_central_participant FMA:9915 ! Cervical vertebra [Term] id: _:adenohypophysis_process is_anonymous: true intersection_of: GO:0003008 ! organ system process intersection_of: has_central_participant FMA:74627 ! Adenohypophysis [Term] id: _:motor_and_sensory_nerve_conduction is_anonymous: true intersection_of: GO:0019226 ! transmission of nerve impulse intersection_of: has_central_participant FMA:65239 ! Peripheral nerve [Term] id: _:epiphysis_of_humerus_ossification is_anonymous: true is_a: _:temp_term_holder intersection_of: GO:0001503 ! ossification intersection_of: occurs_in FMA:32825 ! Epiphysis of humerus [Term] id: _:proximal_epiphysis_of_humerus_ossification is_anonymous: true is_a: _:temp_term_holder intersection_of: GO:0001503 ! ossification intersection_of: occurs_in FMA:23362 ! Proximal epiphysis of humerus [Term] id: _:proximal_epiphysis_of_femoral_ossification is_anonymous: true is_a: _:temp_term_holder intersection_of: GO:0001503 ! ossification intersection_of: occurs_in FMA:32841 ! Proximal epiphysis of femur [Term] id: _:erytrhocyte_oxygen_transport is_anonymous: true intersection_of: GO:0015671 ! oxygen transport intersection_of: has_central_participant CL:0000232 ! erythrocyte [Term] id: _:fatty_acid_anion_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:28868 ! fatty acid anion [Term] id: _:mucopolysaccharide_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:37395 ! Mucopolysaccharide [Term] id: _:unsaturated_fatty_acid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:27208 ! unsaturated fatty acid [Term] id: _:dicarboxylic_acid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:35692 ! dicarboxylic acid [Term] id: _:astrocyte_cell_growth is_anonymous: true intersection_of: GO:0016049 ! cell growth intersection_of: has_central_participant CL:0000127 ! astrocyte [Term] id: _:prostaglandin_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:26333 ! prostaglandin [Term] id: _:sarcosine_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:15611 ! sarcosine [Term] id: _:long_chain_acid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:15904 ! long-chain fatty acid [Term] id: _:monocarboxylic_acid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:25384 ! monocarboxylic acid [Term] id: _:liposaccharide_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:35740 ! liposaccharide [Term] id: _:galactoside_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:24163 ! galactoside [Term] id: _:phytanic_acid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:16285 ! phytanic acid [Term] id: _:glycolipid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:33563 ! glycolipid [Term] id: _:fatty_acid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:35366 ! fatty acid [Term] id: _:orotic_acid_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:16742 ! orotic acid [Term] id: _:carnitine_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:17126 ! carnitine [Term] id: _:polysaccharide_metabolism is_anonymous: true intersection_of: GO:0008152 ! metabolic process intersection_of: has_participant CHEBI:18154 ! polysaccharide [Term] id: _:urine_homeostasis is_anonymous: true intersection_of: GO:0042592 ! homeostasis intersection_of: has_central_participant FMA:12274 ! Portion of urine [Term] id: _:iris_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:58235 ! Iris [Term] id: _:glial_cell_growth is_anonymous: true intersection_of: GO:0016049 ! cell growth intersection_of: has_central_participant CL:0000243 ! glial cell (sensu Vertebrata) [Term] id: _:liver_cell_death is_anonymous: true intersection_of: GO:0008219 ! cell death intersection_of: has_participant FMA:7197 ! Liver [Term] id: _:renal_tubule_death is_anonymous: true intersection_of: GO:0008219 ! cell death intersection_of: has_participant FMA:15627 ! Renal tubule [Term] id: _:cardiac_muscle_cell_death is_anonymous: true intersection_of: GO:0008219 ! cell death intersection_of: has_participant CL:0000746 ! cardiac muscle cell [Term] id: _:skeletal_muscle_cell_death is_anonymous: true intersection_of: GO:0008219 ! cell death intersection_of: has_participant FMA:9727 ! Skeletal muscle cell [Term] id: _:ventricle_cardiac_muscle_contraction is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:7100 ! Cardiac ventricle [Term] id: _:hair_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:53667 ! Hair [Term] id: _:skin_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:7163 ! Skin [Term] id: _:retina_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:58301 ! Retina [Term] id: _:sclera_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:58269 ! Sclera [Term] id: _:forehead_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:63883 ! Skin of forehead [Term] id: _:eyelid_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant FMA:24760 ! Skin of eyelid [Term] id: _:fundus_pigmentation is_anonymous: true intersection_of: GO:0043473 ! pigmentation intersection_of: has_central_participant UBERON:0003951 ! ocular fundus !!! Anantomical cross products ! this should probably be a named term in FMA [Term] id: _:fibularis_muscles intersection_of: FMA:5022 ! Muscle organ intersection_of: has_part FMA:22538 ! Fibularis tertius intersection_of: has_part FMA:22539 ! Fibularis longus intersection_of: has_part FMA:22540 ! Fibularis brevis [Term] id: _:second_third_or_fourth_toes union_of: FMA:25048 ! Second Toe union_of: FMA:25051 ! Third Toe union_of: FMA:25052 ! Fourth Toe [Term] id: _:elbow_epiphysis is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:24012 ! Epiphysis intersection_of: part_of FMA:24901 ! Elbow [Term] id: _:intrascrotal_fluid is_anonymous: true intersection_of: FMA:16515 ! Peritoneal fluid intersection_of: contained_in FMA:18252 ! Scrotum [Term] id: _:urine_in_ureter is_anonymous: true intersection_of: FMA:12274 ! Portion of urine intersection_of: contained_in FMA:9704 ! Ureter [Term] id: _:CSF_in_brain_ventricle is_anonymous: true intersection_of: FMA:20935 ! Cerebrospinal fluid intersection_of: contained_in FMA:78447 ! Region of ventricular system of brain ! this should probably be a named term in FMA [Term] id: _:scapular_muscles intersection_of: FMA:5022 ! Muscle organ intersection_of: has_part FMA:32519 ! Levator scapulae intersection_of: has_part FMA:32546 ! Infraspinatus intersection_of: has_part FMA:32549 ! Teres major intersection_of: has_part FMA:32550 ! Teres minor intersection_of: has_part FMA:9629 ! Supraspinatus [Term] id: _:ethmoidal_and_frontal_sinus is_anonymous: true intersection_of: FMA:59679 ! Paranasal sinus intersection_of: has_part FMA:84115 ! Ethmoidal sinus intersection_of: has_part FMA:57417 ! Frontal sinus ![Term] !id: _:epiphysis_of_hand !is_anonymous: true !intersection_of: FMA:7474 ! Long bone !intersection_of: has_part FMA:240707 ! Epiphysis of phalanx of finger !intersection_of: has_part FMA:33792 ! Epiphysis of metacarpal bone [Term] id: _:spinal_cord_and_meninges is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:256135 ! Body intersection_of: has_part FMA:7647 ! Spinal cord intersection_of: has_part FMA:231572 ! Meningeal cluster [Term] id: _:left_or_right_kidney union_of: FMA:7205 ! left kidney union_of: FMA:7204 ! right kidney [Term] id: _:left_and_right_kidney intersection_of: FMA:256135 ! Body intersection_of: has_part FMA:7205 ! Left kidney intersection_of: has_part FMA:7204 ! Right kidney [Term] id: _:bones_of_the_extremities is_anonymous: true intersection_of: FMA:23875 ! Skeleton intersection_of: has_part FMA:24140 ! Skeleton of lower limb intersection_of: has_part FMA:24139 ! Skeleton of upper limb [Term] id: _:primary_and_permenant_dentition is_anonymous: true intersection_of: FMA:256135 ! Body intersection_of: has_part FMA:55655 ! Primary tooth intersection_of: has_part FMA:55654 ! Secondary tooth [Term] id: _:cortex_of_frontal_lobe_and_cortex_of_parietal_lobe is_anonymous: true intersection_of: FMA:61830 ! Cerebral cortex intersection_of: has_part FMA:242199 ! Cortex of frontal lobe intersection_of: has_part FMA:242203 ! Cortex of parietal lobe [Term] id: _:pubic_rami is_anonymous: true intersection_of: FMA:16595 ! Pubis intersection_of: has_part FMA:16989 ! Inferior pubic ramus intersection_of: has_part FMA:16988 ! Superior pubic ramus [Term] id: _:femoral_head_and_neck is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:9611 ! Femur intersection_of: has_part FMA:32851 ! Head of femur intersection_of: has_part FMA:42385 ! Neck of femur [Term] id: _:thoracolumbar_vertebral_bodies is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:71221 ! Axial skeleton intersection_of: has_part FMA:9921 ! Lumbar vertebra intersection_of: has_part FMA:9139 ! Thoracic vertebra [Term] id: _:spinous_process_thoracic_lumbar_vertebrae is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:11948 ! Spinous process of vertebra intersection_of: has_part FMA:9149 ! Spinous process of thoracic vertebra intersection_of: has_part FMA:16081 ! Spinous process of lumbar vertebra [Term] id: _:limb-girdle_muscle is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:32558 ! Musculature intersection_of: has_part FMA:37347 ! Muscle of pectoral girdle intersection_of: has_part FMA:37367 ! Muscle of pelvic girdle [Term] id: _:Basicranium_and_Calvaria is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:78585 ! Subdivision of axial skeleton intersection_of: has_part FMA:52801 ! Basicranium intersection_of: has_part FMA:52800 ! Calvaria [Term] id: _:skin_hair_eye union_of: FMA:7163 ! Skin union_of: FMA:53667 ! Hair union_of: FMA:54448 ! Eye [Term] id: _:distal_and_proximal_set_of_muscles is_anonymous: true is_a: _:temp_term_holder intersection_of: FMA:72954 ! Muscular system intersection_of: has_part _:distal_set_of_muscles intersection_of: has_part _:proximal_muscle_set_of_muscles [Term] id: _:liver_and_spleen intersection_of: FMA:55652 ! Anatomical set intersection_of: has_part FMA:7197 ! Liver intersection_of: has_part FMA:7196 ! Spleen [Term] id: _:fontanelle_and_cranial_suture intersection_of: FMA:55652 ! Anatomical set intersection_of: has_part FMA:75438 ! Fontanelle intersection_of: has_part FMA:7493 ! Suture [Term] id: _:white_and_red_blood_cell_and_platelet is_anonymous: true intersection_of: FMA:256135 ! Body intersection_of: has_part CL:0000232 ! erythrocyte intersection_of: has_part CL:0000233 ! platelet intersection_of: has_part CL:0000738 ! white blood cell [Term] id: _:temp_term_holder name: temp_term_holder namespace: medical_genetics comment: temp holder for anonymous terms.