obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features

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• Please add disease-HPO-class requests also to this tracker!

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human-phenotype-ontology's Issues

merge: hip osteoarthritis & osteoarthritis of hip

…..is_a HP:0001369 ! arthritis
……is_a HP:0002758 ! osteoarthritis
…….is_a HP:0002824 ! early onset osteoarthritis
…….is_a HP:0003088 ! premature osteoarthritis
…….is_a HP:0005086 ! knee osteoarthritis
…….is_a HP:0005762 ! osteoarthritis, more common in adults
…….is_a HP:0008809 ! osteoarthritis of hip *
…….is_a HP:0008843 ! hip osteoarthritis *

also: what is the difference between premature and early onset?

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/1

HP:0003272 "Abnormality of the hip"

the parent term HP:0003272 "Abnormality of the hip" has computational definition as being a quality of FMA:24964 "Hip"

• however, the text def says "hip joint or the surrounding anatomic region", which is more consistent with its parentage in abnormality of the joints

Reported by: *anonymous

Original Ticket: obo/human-phenotype-requests/42

singular vs. plural

check that terms are only singular or only plural. errors like
abnormality of the outer ear
is_a
abnormality of the ear
should be avoided.

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/23

term request (convulsions)

general convulsions (not febrile) - <> seizures?

Reported by: svanvoor

Original Ticket: obo/human-phenotype-requests/37

reasoner results

scroll down for entailed equivalencies (merge suggested). Also see _:terms for suggested new terms to avoid anon classes in the xp defs file.

[ HP:0000003 ! Multicystic kidney ] is_a [ HP:0000113 ! Polycystic kidney ]
[ HP:0000013 ! Hypoplastic uterus ] is_a [ HP:0001154 ! Rudimentary uterus ]
[ HP:0000038 ! Small penis ] is_a [ HP:0000054 ! Micropenis ]
[ HP:0000061 ! Ambiguous genitalia, female ] is_a [ HP:0008690 ! Ambiguous genitalia due to virilization ]
[ HP:0000107 ! Renal cysts ] is_a [ HP:0000088 ! Cystic kidney ]
[ HP:0000113 ! Polycystic kidney ] is_a [ HP:0000003 ! Multicystic kidney ]
[ HP:0000226 ! Small tongue ] is_a [ HP:0010295 ! Aplasia/Hypoplasia of the tongue ]
[ HP:0000256 ! Macrocephaly ] is_a [ HP:0004482 ! Relative macrocephaly ]
[ HP:0000272 ! Malar hypoplasia ] is_a _:zygomatic_bone_hypoplasia
[ HP:0000291 ! Abnormality of facial adipose tissue ] is_a [ HP:0009124 ! Abnormality of adipose tissue ]
[ HP:0000315 ! Abnormality of the orbital region ] is_a [ HP:0000478 ! Abnormality of the eyes ]
[ HP:0000316 ! Hypertelorism ] is_a [ HP:0002001 ! Wide-set eyes ]
[ HP:0000353 ! Facial weakness, mild ] is_a [ HP:0004670 ! Facial muscle weakness, mild-to-moderate ]
[ HP:0000376 ! Mondini malformation ] is_a [ HP:0008586 ! Hypoplastic cochlea ]
[ HP:0000409 ! Small ears ] is_a [ HP:0008772 ! Aplasia/Hypoplasia of the outer ear ]
[ HP:0000425 ! Flattened nasal bridge ] is_a [ HP:0000431 ! Broad nasal bridge ]
[ HP:0000431 ! Broad nasal bridge ] is_a [ HP:0000425 ! Flattened nasal bridge ]
[ HP:0000478 ! Abnormality of the eyes ] is_a [ HP:0000315 ! Abnormality of the orbital region ]
[ HP:0000768 ! Pectus carinatum ] is_a [ HP:0006639 ! Pectus carinatum, severe ]
[ HP:0000792 ! Kidney malformation ] is_a [ HP:0008712 ! Renal malformation ]
[ HP:0000826 ! Precocious puberty ] is_a [ HP:0001153 ! Septate vagina ]
[ HP:0000881 ! Absent ribs ] is_a [ HP:0000921 ! Missing ribs ]
[ HP:0000894 ! Short clavicles ] is_a _:straight_clavicles
[ HP:0000921 ! Missing ribs ] is_a [ HP:0000881 ! Absent ribs ]
[ HP:0000948 ! Metaphyseal dysplasia ] is_a [ HP:0005636 ! Generalized metaphyseal skeletal dysplasia ]
[ HP:0000950 ! Broad short ribs ] is_a [ HP:0006667 ! Broad, slightly short ribs ]
[ HP:0000980 ! Pallor ] is_a [ HP:0007419 ! Pale pigmentation ]
[ HP:0000996 ! Facial capillary hemangioma ] is_a [ HP:0005306 ! Capillary hemangiomas ]
[ HP:0001153 ! Septate vagina ] is_a [ HP:0000826 ! Precocious puberty ]
[ HP:0001202 ! Hypoplastic distal phalanges ] is_a [ HP:0009882 ! Hypoplasia of the distal phalanges of the hand ]
[ HP:0001231 ! Abnormalities of the fingernails ] is_a [ HP:0010623 ! Abnormality of the fingernails ]
[ HP:0001232 ! Nail bed telangiectases ] is_a [ HP:0001009 ! Telangiectases ]
[ HP:0001385 ! Hip dysplasia ] is_a [ HP:0008787 ! Congenital hip dysplasia ]
[ HP:0001460 ! Aplasia/Hypoplasia involving the musculature ] is_a [ HP:0009034 ! Poorly developed skeletal musculature ]
[ HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs ] is_a [ HP:0009016 ! Upper limb muscle hypoplasia ]
[ HP:0001473 ! Osteolysis involving metatarsal bones ] is_a [ HP:0001842 ! Acroosteolysis (feet) ]
[ HP:0001510 ! Growth retardation ] is_a [ HP:0001514 ! Postnatal growth retardation ]
[ HP:0001650 ! Aortic stenosis ] is_a [ HP:0001680 ! Coarctation of aorta ]
[ HP:0001680 ! Coarctation of aorta ] is_a [ HP:0001650 ! Aortic stenosis ]
[ HP:0001842 ! Acroosteolysis (feet) ] is_a [ HP:0001473 ! Osteolysis involving metatarsal bones ]
[ HP:0001961 ! Hypoplastic heart ] is_a [ HP:0004383 ! Hypoplastic left heart ]
[ HP:0002043 ! Esophageal stricture ] is_a [ HP:0010450 ! Esophageal stenosis ]
[ HP:0002059 ! Cerebral atrophy ] is_a [ HP:0007368 ! Atrophy/Degeneration affecting the cerebellum ]
[ HP:0002283 ! Diffuse brain atrophy ] is_a [ HP:0002506 ! Diffuse cerebral atrophy ]
[ HP:0002406 ! Limb dysmetria ] is_a [ HP:0002070 ! Limb ataxia ]
[ HP:0002424 ! Frontal lobe hypoplasia ] is_a [ HP:0007333 ! Hypoplastic frontal lobes ]
[ HP:0002534 ! Limb weakness ] is_a [ HP:0003690 ! Limb muscle weakness ]
[ HP:0002660 ! Increased fractures ] is_a [ HP:0003084 ! Fractures of the long bones ]
[ HP:0002938 ! Lumbar hyperlordosis ] is_a [ HP:0002941 ! Increased lumbar lordosis ]
[ HP:0002940 ! Mild platyspondyly ] is_a [ HP:0005719 ! Mild vertebral anomalies ]
[ HP:0002941 ! Increased lumbar lordosis ] is_a [ HP:0002938 ! Lumbar hyperlordosis ]
[ HP:0002998 ! Short ulna ] is_a [ HP:0006444 ! Ulnae, relatively short ]
[ HP:0003015 ! Metaphyseal flaring ] is_a _:splayed_metaphysis
[ HP:0003026 ! Short long bones ] is_a [ HP:0006457 ! Long bone shortening ]
[ HP:0003187 ! Breast hypoplasia ] is_a [ HP:0000784 ! Underdeveloped breasts ]
[ HP:0003370 ! Flat capital femoral epiphyses ] is_a [ HP:0006393 ! Flat proximal femoral epiphyses ]
[ HP:0003373 ! Small pelvis ] is_a [ HP:0009103 ! Aplasia/Hypoplasia involving the pelvis ]
[ HP:0003423 ! Thoracolumbar kyphoscoliosis ] is_a [ HP:0002944 ! Thoracolumbar scoliosis ]
[ HP:0003423 ! Thoracolumbar kyphoscoliosis ] is_a [ HP:0005619 ! Thoracolumbar kyphosis ]
[ HP:0003424 ! Progressive kyphoscoliosis ] is_a [ HP:0003317 ! Progressive scoliosis ]
[ HP:0003635 ! Loss of subcutaneous adipose tissue in limbs ] is_a [ HP:0008887 ! Adipose tissue loss ]
[ HP:0003690 ! Limb muscle weakness ] is_a [ HP:0002534 ! Limb weakness ]
[ HP:0003746 ! Amyotrophy involving the lower limbs ] is_a [ HP:0003714 ! Lower leg atrophy ]
[ HP:0003842 ! Irregular epiphyses of the upper limbs ] is_a [ HP:0010582 ! Irregular epiphyses ]
[ HP:0003844 ! Small epiphyses of the upper limbs ] is_a [ HP:0010585 ! Small epiphyses ]
[ HP:0003860 ! Diaphyseal sclerosis of the upper limbs ] is_a [ HP:0003034 ! Diaphyseal sclerosis ]
[ HP:0003861 ! Wide/broad diaphyses of the upper limbs ] is_a _:broad_diaphysis
[ HP:0003901 ! Stippled calcification of the humeral epiphyses ] is_a [ HP:0008838 ! Stippled calcification proximal humeral epiphyses ]
[ HP:0003904 ! Wide/broad epiphyses of the upper limbs ] is_a _:wide_epiphysis
[ HP:0003988 ! Long ulna ] is_a [ HP:0006435 ! Disproportionately long ulnae ]
[ HP:0004054 ! Sclerosis of hand bones ] is_a [ HP:0004055 ! Generalized sclerosis of hand bones ]
[ HP:0004144 ! Duplication of terminal index finger phalanx ] is_a [ HP:0009950 ! Complete duplication of the distal phalanx of the 2nd finger ]
[ HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger ] is_a [ HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger ]
[ HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger ] is_a [ HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger ]
[ HP:0004288 ! Pseudoepiphyses of hand bones ] is_a [ HP:0010235 ! Pseudoepiphyses of the phalanges of the hand ]
[ HP:0004298 ! Abnormality of the abdominal wall ] is_a [ HP:0003011 ! Abnormality of musculature ]
[ HP:0004322 ! Decreased body height ] is_a [ HP:0001509 ! Short stature ]
[ HP:0004449 ! prominent ear lobules ] is_a [ HP:0004456 ! Prominent ear lobes ]
[ HP:0004456 ! Prominent ear lobes ] is_a [ HP:0004449 ! prominent ear lobules ]
[ HP:0004465 ! Malformation of auricle ] is_a [ HP:0008562 ! Poorly formed pinnae ]
[ HP:0004567 ! scoliosis, thoracolumbar, severe, progressive ] is_a [ HP:0002770 ! Severe scoliosis ]
[ HP:0004567 ! scoliosis, thoracolumbar, severe, progressive ] is_a [ HP:0003317 ! Progressive scoliosis ]
[ HP:0004582 ! Mild irregularity of vertebral bodies ] is_a [ HP:0005719 ! Mild vertebral anomalies ]
[ HP:0004585 ! mild thoracolumbar scoliosis ] is_a [ HP:0003303 ! Mild scoliosis ]
[ HP:0004588 ! lumbar platyspondyly, mild ] is_a [ HP:0002940 ! Mild platyspondyly ]
[ HP:0004619 ! lumbar kyphoscoliosis ] is_a [ HP:0004626 ! Lumbar scoliosis ]
[ HP:0004619 ! lumbar kyphoscoliosis ] is_a [ HP:0008454 ! Lumbar kyphosis ]
[ HP:0004646 ! Nasal bone hypoplasia ] is_a [ HP:0005281 ! Hypoplastic nasal bridge ]
[ HP:0004670 ! Facial muscle weakness, mild-to-moderate ] is_a [ HP:0000353 ! Facial weakness, mild ]
[ HP:0004709 ! broad first metatarsal ] is_a [ HP:0010068 ! Broad 1st metatarsal ]
[ HP:0004890 ! elevated pulmonary artery pressure ] is_a [ HP:0004958 ! increased pulmonary artery pressure ]
[ HP:0004958 ! increased pulmonary artery pressure ] is_a [ HP:0004890 ! elevated pulmonary artery pressure ]
[ HP:0004960 ! absent pulmonary artery ] is_a [ HP:0008753 ! Absent/abnormal epiglottis ]
[ HP:0004985 ! knee and ankle contractures ] is_a [ HP:0006466 ! Contractures of the ankles ]
[ HP:0005062 ! Sclerotic, irregular metaphyses ] is_a [ HP:0005078 ! Lucent/sclerotic metaphyseal irregularity ]
[ HP:0005078 ! Lucent/sclerotic metaphyseal irregularity ] is_a [ HP:0005062 ! Sclerotic, irregular metaphyses ]
[ HP:0005091 ! Asymmetric limb shortening ] is_a [ HP:0005618 ! Asymmetric leg shortening ]
[ HP:0005281 ! Hypoplastic nasal bridge ] is_a [ HP:0004646 ! Nasal bone hypoplasia ]
[ HP:0005351 ! Elevated serum IgA ] is_a [ HP:0003261 ! Increased IgA levels ]
[ HP:0005418 ! Elevated serum IgE ] is_a [ HP:0003212 ! Increased IgE levels ]
[ HP:0005638 ! Decreased anterioposterior diameter of lumbar vertebral bodies ] is_a [ HP:0008473 ! Narrow anterio-posterior vertebral body diameter ]
[ HP:0005728 ! Slight kyphoscoliosis ] is_a [ HP:0003303 ! Mild scoliosis ]
[ HP:0005924 ! Abnormality of the epiphyses of the hand ] is_a [ HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand ]
[ HP:0005925 ! Abnormalities of the diaphyses of the hand ] is_a [ HP:0006504 ! Abnormality involving the diaphyses of the limbs ]
[ HP:0005935 ! Laryngeal hypoplasia ] is_a [ HP:0008749 ! Hypoplastic larynx ]
[ HP:0006075 ! Variable shortening of terminal phalanges ] is_a [ HP:0006132 ! Very short distal phalanges ]
[ HP:0006076 ! Short, broad distal phalanges, especially thumbs ] is_a [ HP:0006199 ! Short, broad distal phalanges ]
[ HP:0006097 ! 3-4 finger syndactyly ] is_a [ HP:0006133 ! Partial or complete syndactyly 3rd-4th fingers ]
[ HP:0006133 ! Partial or complete syndactyly 3rd-4th fingers ] is_a [ HP:0006097 ! 3-4 finger syndactyly ]
[ HP:0006173 ! Contractures of the hands, mild ] is_a [ HP:0003098 ! Minor hand anomalies ]
[ HP:0006199 ! Short, broad distal phalanges ] is_a [ HP:0006076 ! Short, broad distal phalanges, especially thumbs ]
[ HP:0006393 ! Flat proximal femoral epiphyses ] is_a [ HP:0003370 ! Flat capital femoral epiphyses ]
[ HP:0006400 ! Absent knee epiphyses ] is_a [ HP:0010577 ! Absent epiphyses ]
[ HP:0006407 ! Small, irregular distal femoral epiphyses ] is_a [ HP:0006456 ! Small, irregular proximal tibial epiphyses ]
[ HP:0006454 ! Severely delayed patellae ossification ] is_a [ HP:0008103 ! Delayed tarsal ossification ]
[ HP:0006456 ! Small, irregular proximal tibial epiphyses ] is_a [ HP:0006407 ! Small, irregular distal femoral epiphyses ]
[ HP:0006457 ! Long bone shortening ] is_a [ HP:0003026 ! Short long bones ]
[ HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet ] is_a [ HP:0001764 ! Small feet ]
[ HP:0007062 ! Spastic paraplegia, lower limb ] is_a [ HP:0002061 ! Lower limb spasticity ]
[ HP:0007210 ! Lower limb hypotrophy ] is_a [ HP:0010496 ! Hypertrophy of the lower limb ]
[ HP:0007333 ! Hypoplastic frontal lobes ] is_a [ HP:0002424 ! Frontal lobe hypoplasia ]
[ HP:0007371 ! Atrophy/Degeneration of the corpus callosum ] is_a [ HP:0005712 ! Corpus callosum atrophy ]
[ HP:0007405 ! Telangiectases, random body distribution ] is_a [ HP:0007489 ! Diffuse telangiectases ]
[ HP:0007419 ! Pale pigmentation ] is_a [ HP:0000980 ! Pallor ]
[ HP:0007472 ! Generalized bruising tendency ] is_a [ HP:0000978 ! Ecchymoses ]
[ HP:0007486 ! Cavernous hemangiomas, face ] is_a [ HP:0000329 ! Facial hemangioma ]
[ HP:0007489 ! Diffuse telangiectases ] is_a [ HP:0007405 ! Telangiectases, random body distribution ]
[ HP:0008056 ! Aplasia/Hypoplasia affecting the eye ] is_a [ HP:0001143 ! Small eyes ]
[ HP:0008421 ! Tall lumbar vertebral bodies ] is_a [ HP:0005693 ! Disproportionately tall vertebral bodies ]
[ HP:0008431 ! Underdeveloped vertebrae ] is_a [ HP:0008515 ! Aplasia/Hypoplasia of the vertebrae ]
[ HP:0008513 ! Bilateral conductive deafness ] is_a [ HP:0008536 ! Bilateral conductive hearing loss ]
[ HP:0008515 ! Aplasia/Hypoplasia of the vertebrae ] is_a [ HP:0008431 ! Underdeveloped vertebrae ]
[ HP:0008562 ! Poorly formed pinnae ] is_a [ HP:0004465 ! Malformation of auricle ]
[ HP:0008586 ! Hypoplastic cochlea ] is_a [ HP:0000376 ! Mondini malformation ]
[ HP:0008685 ! Ambiguous external genitalia at birth ] is_a [ HP:0008693 ! Ambiguous external genitalia ]
[ HP:0008690 ! Ambiguous genitalia due to virilization ] is_a [ HP:0000061 ! Ambiguous genitalia, female ]
[ HP:0008693 ! Ambiguous external genitalia ] is_a [ HP:0008685 ! Ambiguous external genitalia at birth ]
[ HP:0008712 ! Renal malformation ] is_a [ HP:0000792 ! Kidney malformation ]
[ HP:0008749 ! Hypoplastic larynx ] is_a [ HP:0005935 ! Laryngeal hypoplasia ]
[ HP:0008753 ! Absent/abnormal epiglottis ] is_a [ HP:0004960 ! absent pulmonary artery ]
[ HP:0008772 ! Aplasia/Hypoplasia of the outer ear ] is_a [ HP:0000409 ! Small ears ]
[ HP:0008787 ! Congenital hip dysplasia ] is_a [ HP:0001385 ! Hip dysplasia ]
[ HP:0008968 ! Muscle hypertrophy of the lower extremities ] is_a [ HP:0009001 ! Lower limb muscle hypotrophy ]
[ HP:0008982 ! Peroneal atrophy ] is_a [ HP:0009049 ! Peroneal muscle atrophy ]
[ HP:0009001 ! Lower limb muscle hypotrophy ] is_a [ HP:0008968 ! Muscle hypertrophy of the lower extremities ]
[ HP:0009017 ! Loss of subcutaneous adipose tissue from gluteal region ] is_a [ HP:0008887 ! Adipose tissue loss ]
[ HP:0009049 ! Peroneal muscle atrophy ] is_a [ HP:0008982 ! Peroneal atrophy ]
[ HP:0009055 ! Generalized limb muscle atrophy ] is_a [ HP:0008987 ! Muscle atrophy, diffuse ]
[ HP:0009057 ! Progressive distal muscle weakness and atrophy ] is_a [ HP:0009063 ! Muscle weakness, distal, progressive ]
[ HP:0009103 ! Aplasia/Hypoplasia involving the pelvis ] is_a [ HP:0003373 ! Small pelvis ]
[ HP:0009127 ! Abnormality of the musculature of the limbs ] is_a [ HP:0003011 ! Abnormality of musculature ]
[ HP:0009143 ! Duplication of finger bones ] is_a [ HP:0009998 ! Complete duplication of the phalanges of the hand ]
[ HP:0009152 ! Abnormality of the epiphyses of the 5th finger ] is_a [ HP:0004213 ! Abnormality of the phalanges of the 5th finger ]
[ HP:0009157 ! Ivory epiphysis of the proximal phalanx of the 5th finger ] is_a [ HP:0009209 ! Ivory epiphysis of the middle phalanx of the 5th finger ]
[ HP:0009175 ! Patchy sclerosis of the middle phalanx of the 5th finger ] is_a [ HP:0009243 ! Patchy sclerosis of the distal phalanx of the 5th finger ]
[ HP:0009209 ! Ivory epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0009157 ! Ivory epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009243 ! Patchy sclerosis of the distal phalanx of the 5th finger ] is_a [ HP:0009175 ! Patchy sclerosis of the middle phalanx of the 5th finger ]
[ HP:0009304 ! Patchy sclerosis of the distal phalanx of the 4th finger ] is_a [ HP:0009307 ! Patchy sclerosis of the middle phalanx of the 4th finger ]
[ HP:0009307 ! Patchy sclerosis of the middle phalanx of the 4th finger ] is_a [ HP:0009304 ! Patchy sclerosis of the distal phalanx of the 4th finger ]
[ HP:0009320 ! Abnormality of the epiphyses of the 3rd finger ] is_a [ HP:0009316 ! Abnormality of the phalanges of the 3rd finger ]
[ HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger ] is_a [ HP:0009231 ! Patchy sclerosis of the proximal phalanx of the 5th finger ]
[ HP:0009382 ! Absent epiphyses of the 5th finger ] is_a [ HP:0009410 ! Absent epiphyses of the 3rd finger ]
[ HP:0009403 ! Triangular epiphyses of the 4th finger ] is_a [ HP:0009407 ! Triangular shaped phalanges of the 4th finger ]
[ HP:0009410 ! Absent epiphyses of the 3rd finger ] is_a [ HP:0009382 ! Absent epiphyses of the 5th finger ]
[ HP:0009420 ! Triangular epiphyses of the 3rd finger ] is_a [ HP:0009392 ! Triangular epiphyses of the 5th finger ]
[ HP:0009420 ! Triangular epiphyses of the 3rd finger ] is_a [ HP:0009446 ! Triangular shaped phalanges of the 3rd finger ]
[ HP:0009425 ! Patchy sclerosis of the distal phalanx of the 3rd finger ] is_a [ HP:0009434 ! Patchy sclerosis of the middle phalanx of the 3rd finger ]
[ HP:0009434 ! Patchy sclerosis of the middle phalanx of the 3rd finger ] is_a [ HP:0009425 ! Patchy sclerosis of the distal phalanx of the 3rd finger ]
[ HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger ] is_a [ HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger ]
[ HP:0009548 ! Bullet-shaped phalanges of the 2nd finger ] is_a [ HP:0009541 ! Abnormality of the phalanges of the 2nd finger ]
[ HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger ] is_a [ HP:0009561 ! Osteolytic defects of the distal phalanx of the 2nd finger ]
[ HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger ] is_a [ HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger ]
[ HP:0009562 ! Patchy sclerosis of the distal phalanx of the 2nd finger ] is_a [ HP:0009573 ! Patchy sclerosis of the middle phalanx of the 2nd finger ]
[ HP:0009573 ! Patchy sclerosis of the middle phalanx of the 2nd finger ] is_a [ HP:0009562 ! Patchy sclerosis of the distal phalanx of the 2nd finger ]
[ HP:0009630 ! Broad proximal phalanx of the thumb ] is_a [ HP:0009642 ! Broad distal phalanx of the thumb ]
[ HP:0009642 ! Broad distal phalanx of the thumb ] is_a [ HP:0009630 ! Broad proximal phalanx of the thumb ]
[ HP:0009661 ! Complete/partial duplication of phalanges of the thumb ] is_a [ HP:0009942 ! Partial/complete duplication of phalanges of the thumb ] entailed: [ HP:0009661 ! Complete/partial duplication of phalanges of the thumb ] has_part [ HP:0009942 ! Partial/complete duplication of phalanges of the thumb ]
[ HP:0009673 ! Stippling of the epiphysis of the proximal phalanx of the thumb ] is_a [ HP:0009684 ! Stippling of the epiphysis of the distal phalanx of the thumb ]
[ HP:0009684 ! Stippling of the epiphysis of the distal phalanx of the thumb ] is_a [ HP:0009673 ! Stippling of the epiphysis of the proximal phalanx of the thumb ]
[ HP:0009686 ! Absent epiphyses of the thumb ] is_a [ HP:0009777 ! Aplasia of the thumb ]
[ HP:0009777 ! Aplasia of the thumb ] is_a [ HP:0009686 ! Absent epiphyses of the thumb ]
[ HP:0009799 ! Supernumerary spleens ] is_a [ HP:0001748 ! Polysplenia ]
[ HP:0009808 ! Abnormality involving the diaphyses of the upper limbs ] is_a [ HP:0006504 ! Abnormality involving the diaphyses of the limbs ]
[ HP:0009882 ! Hypoplasia of the distal phalanges of the hand ] is_a [ HP:0001202 ! Hypoplastic distal phalanges ]
[ HP:0009893 ! Telangiectasias of the ears ] is_a [ HP:0001009 ! Telangiectases ]
[ HP:0009942 ! Partial/complete duplication of phalanges of the thumb ] is_a [ HP:0009661 ! Complete/partial duplication of phalanges of the thumb ] entailed: [ HP:0009942 ! Partial/complete duplication of phalanges of the thumb ] has_part [ HP:0009661 ! Complete/partial duplication of phalanges of the thumb ]
[ HP:0009950 ! Complete duplication of the distal phalanx of the 2nd finger ] is_a [ HP:0004144 ! Duplication of terminal index finger phalanx ]
[ HP:0009951 ! Partial duplication of the distal phalanx of the 2nd finger ] is_a [ HP:0009995 ! Partial duplication of the middle phalanx of the 5th finger ]
[ HP:0009995 ! Partial duplication of the middle phalanx of the 5th finger ] is_a [ HP:0009951 ! Partial duplication of the distal phalanx of the 2nd finger ]
[ HP:0009998 ! Complete duplication of the phalanges of the hand ] is_a [ HP:0009143 ! Duplication of finger bones ]
[ HP:0010052 ! Abnormality of the proximal phalanx of the hallux ] is_a [ HP:0010053 ! Abnormality of the distal phalanx of the hallux ]
[ HP:0010053 ! Abnormality of the distal phalanx of the hallux ] is_a [ HP:0010052 ! Abnormality of the proximal phalanx of the hallux ]
[ HP:0010057 ! Abnormality of the phalanges of the hallux ] is_a [ HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux ]
[ HP:0010068 ! Broad 1st metatarsal ] is_a [ HP:0004709 ! broad first metatarsal ]
[ HP:0010109 ! Hypoplastic/small hallux ] is_a _:short_first_toe
[ HP:0010162 ! Absent epiphyses of the toes ] is_a [ HP:0010577 ! Absent epiphyses ]
[ HP:0010163 ! Bracket epiphyses of the toes ] is_a [ HP:0010578 ! Bracket epiphyses ]
[ HP:0010164 ! Cone-shaped epiphyses of the toes ] is_a [ HP:0010579 ! Cone-shaped epiphyses ]
[ HP:0010165 ! Enlarged epiphyses of the toes ] is_a [ HP:0010580 ! Enlarged epiphyses ]
[ HP:0010166 ! Fragmentation of the epiphyses of the toes ] is_a [ HP:0010583 ! Ivory epiphyses ]
[ HP:0010167 ! Irregular epiphyses of the toes ] is_a [ HP:0010582 ! Irregular epiphyses ]
[ HP:0010168 ! Ivory epiphyses of the toes ] is_a [ HP:0010171 ! Stippling of the epiphyses of the toes ]
[ HP:0010170 ! Small epiphyses of the toes ] is_a [ HP:0010585 ! Small epiphyses ]
[ HP:0010171 ! Stippling of the epiphyses of the toes ] is_a [ HP:0010168 ! Ivory epiphyses of the toes ]
[ HP:0010172 ! Triangular epiphyses of the toes ] is_a [ HP:0010587 ! Triangular epiphyses ]
[ HP:0010178 ! Patchy sclerosis of the phalanges of the toes ] is_a [ HP:0010187 ! Bullet-shaped distal phalanges of the toes ]
[ HP:0010187 ! Bullet-shaped distal phalanges of the toes ] is_a [ HP:0010178 ! Patchy sclerosis of the phalanges of the toes ]
[ HP:0010222 ! Abnormality of the epiphysis of the 3rd metacarpal ] is_a [ HP:0010012 ! Abnormality of the 4th metacarpal ]
[ HP:0010226 ! Abnormality of the epiphysis of the 5th metacarpal ] is_a [ HP:0010012 ! Abnormality of the 4th metacarpal ]
[ HP:0010229 ! Bracket epiphyses of the phalanges of the hand ] is_a [ HP:0010578 ! Bracket epiphyses ]
[ HP:0010235 ! Pseudoepiphyses of the phalanges of the hand ] is_a [ HP:0004288 ! Pseudoepiphyses of hand bones ]
[ HP:0010295 ! Aplasia/Hypoplasia of the tongue ] is_a [ HP:0000226 ! Small tongue ]
[ HP:0010349 ! Bullet-shaped phalanges of the 2nd toe ] is_a [ HP:0010361 ! Bullet-shaped phalanges of the 3rd toe ]
[ HP:0010361 ! Bullet-shaped phalanges of the 3rd toe ] is_a [ HP:0010349 ! Bullet-shaped phalanges of the 2nd toe ]
[ HP:0010450 ! Esophageal stenosis ] is_a [ HP:0002043 ! Esophageal stricture ]
[ HP:0010496 ! Hypertrophy of the lower limb ] is_a [ HP:0007210 ! Lower limb hypotrophy ]
[ HP:0010623 ! Abnormality of the fingernails ] is_a [ HP:0001231 ! Abnormalities of the fingernails ]
[ HP:0010630 ! Abnormality of the epiphyses of the metatarsals ] is_a [ HP:0008089 ! Anomalous fifth metatarsal ]
[ HP:0010631 ! Abnormality of the epiphyses of the feet ] is_a [ HP:0001780 ! Abnormality of the toes ]
_:face_telangiectases is_a [ HP:0001009 ! Telangiectases ]
_:foot_telangiectases is_a [ HP:0001009 ! Telangiectases ]
_:palm_telangiectases is_a [ HP:0001009 ! Telangiectases ]
_:proximal_limb_muscle is_a _:proximal_lower_limb_muscle
_:proximal_lower_limb_muscle is_a _:proximal_limb_muscle
_:short_first_toe is_a [ HP:0010109 ! Hypoplastic/small hallux ]
_:splayed_metaphysis is_a [ HP:0003015 ! Metaphyseal flaring ]
_:straight_clavicles is_a [ HP:0000894 ! Short clavicles ]
_:trunk_telangiectases is_a [ HP:0001009 ! Telangiectases ]
_:unossified_cervical_vertebra is_a [ HP:0004606 ! Unossified vertebral bodies ]
_:unossified_thoracic_vertebra is_a [ HP:0004606 ! Unossified vertebral bodies ]
_:zygomatic_bone_hypoplasia is_a [ HP:0000272 ! Malar hypoplasia ]
[ HP:0000023 ! Inguinal hernia ] is_a [ HP:0002242 ! Abnormality of the intestines ]
[ HP:0000029 ! Testicular atrophy ] is_a [ HP:0008734 ! Decreased testicular size ]
[ HP:0000072 ! Hydroureter ] is_a [ HP:0000795 ! Abnormality of the urethra ]
HP:0000137 Abnormality of the ovaries is_a [ HP:0000118 ! Organ abnormality ]
[ HP:0000179 ! Prominent lower lip ] is_a [ HP:0002712 ! Protruding lower lip ]
[ HP:0000195 ! Gingival hypertrophy ] is_a [ HP:0000212 ! Gingival hyperplasia ]
[ HP:0000214 ! Lip telangiectases ] is_a _:face_telangiectases
[ HP:0000217 ! Xerostomia ] is_a [ HP:0000163 ! Abnormality of the oral cavity ]
[ HP:0000227 ! Tongue telangiectases ] is_a _:face_telangiectases
[ HP:0000237 ! Small anterior fontanelle ] is_a [ HP:0005486 ! Small fontanelles ]
[ HP:0000252 ! Microcephaly ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0000301 ! Abnormality of facial musculature ] is_a [ HP:0003011 ! Abnormality of musculature ]
[ HP:0000364 ! Hearing abnormality ] is_a [ HP:0002302 ! Abnormality of cognition ]
[ HP:0000385 ! Hypoplastic ear lobes ] is_a [ HP:0008551 ! Underdeveloped ears ]
[ HP:0000414 ! Bulbous nose ] is_a [ HP:0000436 ! Abnormality of the nasal tip ]
[ HP:0000417 ! Slender nose ] is_a [ HP:0000436 ! Abnormality of the nasal tip ]
[ HP:0000430 ! Hypoplastic nasal alae ] is_a [ HP:0002763 ! Abnormality of cartilage ]
[ HP:0000434 ! Nasal mucosa telangiectases ] is_a _:face_telangiectases
[ HP:0000504 ! Abnormality of vision ] is_a [ HP:0002302 ! Abnormality of cognition ]
[ HP:0000508 ! Ptosis ] is_a [ HP:0000492 ! Abnormality of the eyelid ]
[ HP:0000556 ! Retinal dystrophy ] is_a [ HP:0008061 ! Aplasia/Hypoplasia affecting the retina ]
[ HP:0000602 ! Ophthalmoplegia ] is_a [ HP:0008049 ! Abnormality of the extraocular muscles ]
[ HP:0000609 ! Optic nerve hypoplasia ] is_a [ HP:0008058 ! Aplasia/Hypoplasia of the optic nerve ]
[ HP:0000648 ! Optic atrophy ] is_a [ HP:0008058 ! Aplasia/Hypoplasia of the optic nerve ]
[ HP:0000653 ! Sparse eyelashes ] is_a [ HP:0008070 ! Sparse hair ]
[ HP:0000883 ! Thin ribs ] is_a [ HP:0003100 ! Thin long bones ]
[ HP:0000919 ! Abnormalities of the costochondral junction ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0000920 ! Enlargement of the costochondral junction ] is_a [ HP:0003037 ! Enlarged joints ]
[ HP:0000941 ! Short diaphyses ] is_a [ HP:0006504 ! Abnormality involving the diaphyses of the limbs ]
[ HP:0000945 ! Flared irregular metaphyses ] is_a [ HP:0005038 ! Widened, irregular metaphyses ]
[ HP:0000953 ! Hyperpigmentation ] is_a [ HP:0007527 ! Increased skin pigmentation ]
[ HP:0000962 ! Hyperkeratosis ] is_a [ HP:0001072 ! Thickened skin ]
[ HP:0001079 ! Telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips) ] is_a [ HP:0000152 ! Head and neck abnormality ] entailed: [ HP:0001079 ! Telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips) ] has_part [ HP:0000152 ! Head and neck abnormality ]
[ HP:0001089 ! Iris atrophy ] is_a [ HP:0008053 ! Aplasia/Hypoplasia of the iris ]
[ HP:0001104 ! Macular hypoplasia ] is_a [ HP:0007770 ! Retinal hypoplasia ]
[ HP:0001131 ! Corneal dystrophy ] is_a [ HP:0000482 ! Microcornea ]
[ HP:0001216 ! Delayed maturation/delayed ossification of carpal bones ] is_a [ HP:0001263 ! Developmental retardation ]
[ HP:0001222 ! Spatulate thumbs ] is_a [ HP:0001500 ! Broad fingers ]
[ HP:0001239 ! Wrist contractures ] is_a [ HP:0003121 ! Limb contractures ]
[ HP:0001240 ! Short, broad thumbs ] is_a [ HP:0001500 ! Broad fingers ]
[ HP:0001240 ! Short, broad thumbs ] is_a [ HP:0009660 ! Hypoplastic/small phalanges of the thumb ] entailed: [ HP:0001240 ! Short, broad thumbs ] has_part [ HP:0009660 ! Hypoplastic/small phalanges of the thumb ]
[ HP:0001249 ! Mental retardation ] is_a [ HP:0002302 ! Abnormality of cognition ]
[ HP:0001252 ! Muscular hypotonia ] is_a [ HP:0003808 ! Abnormal muscle tone ]
[ HP:0001276 ! Hypertonia ] is_a [ HP:0003808 ! Abnormal muscle tone ]
[ HP:0001308 ! Tongue fasciculations ] is_a [ HP:0000157 ! Abnormality of the tongue ]
[ HP:0001320 ! Cerebellar vermis hypoplasia ] is_a [ HP:0001321 ! Cerebellar hypoplasia ]
[ HP:0001332 ! Dystonia ] is_a [ HP:0003808 ! Abnormal muscle tone ]
[ HP:0001371 ! Contractures ] is_a [ HP:0001372 ! Joint contractures ]
[ HP:0001410 ! Decreased liver function ] is_a [ HP:0004393 ! Liver dysfunction ]
[ HP:0001449 ! Duplication of metatarsal bones ] is_a [ HP:0008089 ! Anomalous fifth metatarsal ]
[ HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature ] is_a [ HP:0008952 ! Shoulder muscle hypoplasia ]
[ HP:0001465 ! Amyotrophy involving the shoulder musculature ] is_a [ HP:0003724 ! Shoulder girdle muscle atrophy ]
[ HP:0001465 ! Amyotrophy involving the shoulder musculature ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0001469 ! Abnormality of the musculature of the pelvis ] is_a [ HP:0003011 ! Abnormality of musculature ]
[ HP:0001474 ! Sclerotic scapulae ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0001714 ! Ventricular hypertrophy ] is_a [ HP:0002447 ! Enlarged ventricles ]
[ HP:0001717 ! Coronary artery calcification ] is_a [ HP:0004967 ! Systemic artery calcification ]
[ HP:0001766 ! Short feet ] is_a [ HP:0006402 ! Distal shortening of limbs ]
[ HP:0001771 ! Achilles tendon contractures ] is_a [ HP:0004711 ! Shortening of the achilles tendon ]
[ HP:0001782 ! 'Tree-frog' feet ] is_a [ HP:0009880 ! Broad distal phalanges of fingers and toes ] entailed: [ HP:0001782 ! 'Tree-frog' feet ] has_part [ HP:0009880 ! Broad distal phalanges of fingers and toes ]
[ HP:0001792 ! Hypoplastic nails ] is_a [ HP:0001813 ! Small nails ]
[ HP:0001810 ! Dystrophic toenails ] is_a [ HP:0001813 ! Small nails ]
[ HP:0001810 ! Dystrophic toenails ] is_a [ HP:0008388 ! Abnormality of the toenails ]
[ HP:0001833 ! Large feet ] is_a [ HP:0010611 ! Abnormal feet morphology ]
[ HP:0001853 ! Bifid terminal phalanges (feet) ] is_a [ HP:0010182 ! Abnormality of the distal phalanges of the toes ]
[ HP:0001857 ! Hypoplastic distal phalanges (feet) ] is_a [ HP:0005735 ! Hypoplasia/agenesis of distal phalanges of toes ]
[ HP:0001861 ! Short, broad halluces ] is_a [ HP:0008105 ! Short, broad first toe ]
[ HP:0001864 ! Fifth toe clinodactyly ] is_a [ HP:0010322 ! Abnormality of the 5th toe ]
[ HP:0002006 ! Facial cleft ] is_a [ HP:0001999 ! Facial dysmorphism ]
[ HP:0002008 ! Facial palsy ] is_a [ HP:0001291 ! Abnormality of the cranial nerves ]
[ HP:0002059 ! Cerebral atrophy ] is_a [ HP:0007360 ! Aplasia/Hypoplasia of the cerebellum ]
[ HP:0002061 ! Lower limb spasticity ] is_a [ HP:0002814 ! Abnormality of the lower limbs ]
[ HP:0002120 ! Cerebral cortical atrophy ] is_a [ HP:0002472 ! Small cerebral cortex ]
[ HP:0002135 ! Basal ganglia calcification ] is_a [ HP:0006952 ! Structural abnormalities in the basal ganglia ]
[ HP:0002150 ! Hypercalciuria ] is_a [ HP:0003110 ! Urinary laboratory abnormality ]
[ HP:0002219 ! Facial hypertrichosis ] is_a [ HP:0000271 ! Abnormality of the face ]
[ HP:0002225 ! Sparse pubic hair ] is_a [ HP:0002231 ! Sparse body hair ]
[ HP:0002352 ! Leukoencephalopathy ] is_a [ HP:0002500 ! Abnormality of the cerebral white matter ]
[ HP:0002395 ! Lower limb hyperreflexia ] is_a [ HP:0002814 ! Abnormality of the lower limbs ]
[ HP:0002472 ! Small cerebral cortex ] is_a [ HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system ]
[ HP:0002480 ! Hepatic encephalopathy ] is_a [ HP:0001392 ! Abnormality of the liver ]
[ HP:0002494 ! Abnormal rapid eye movement (REM) sleep ] is_a [ HP:0006979 ! Sleep-wake cycle disturbance ]
[ HP:0002501 ! Spasticity of pharyngeal muscles ] is_a [ HP:0003011 ! Abnormality of musculature ]
[ HP:0002541 ! Knee and ankle clonus ] is_a [ HP:0002815 ! Abnormality of the knees ]
[ HP:0002541 ! Knee and ankle clonus ] is_a [ HP:0003028 ! Abnormality of the ankles ]
[ HP:0002550 ! Absent facial hair ] is_a [ HP:0002298 ! Absent hair ]
[ HP:0002555 ! Absent pubic hair ] is_a [ HP:0002298 ! Absent hair ]
[ HP:0002556 ! Thin scalp hair ] is_a [ HP:0002237 ! Thin hair ]
[ HP:0002575 ! Tracheoesophageal fistula ] is_a [ HP:0002778 ! Abnormality of the trachea ]
[ HP:0002584 ! Intestinal bleeding ] is_a [ HP:0002244 ! Abnormality of the small intestine ]
[ HP:0002654 ! Multiple epiphyseal dysplasia ] is_a [ HP:0005775 ! Multiple skeletal anomalies ]
[ HP:0002656 ! Epiphyseal dysplasia ] is_a [ HP:0005930 ! Abnormality of the epiphyses ]
[ HP:0002663 ! Late ossifying epiphyses ] is_a [ HP:0001263 ! Developmental retardation ]
[ HP:0002673 ! Coxa valga ] is_a [ HP:0003368 ! Abnormality of the femoral head ]
[ HP:0002677 ! Small foramen magnum ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0002692 ! Hypoplastic facial bones ] is_a [ HP:0000274 ! Small face ]
[ HP:0002707 ! Palate telangiectasia ] is_a _:face_telangiectases
[ HP:0002749 ! Osteomalacia ] is_a [ HP:0000938 ! Osteopenia ]
[ HP:0002773 ! Small vertebral bodies ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0002860 ! Squamous cell carcinoma ] is_a [ HP:0006739 ! Squamous cell carcinoma of the skin ]
[ HP:0002866 ! Hypoplastic iliac wings ] is_a [ HP:0003169 ! Small iliac wings ]
[ HP:0002890 ! Thyroid carcinoma ] is_a [ HP:0000820 ! Abnormality of the thyroid gland ]
[ HP:0002893 ! Pituitary adenoma ] is_a [ HP:0000838 ! Abnormality of the pituitary gland ]
[ HP:0002897 ! Parathyroid adenoma ] is_a [ HP:0000828 ! Abnormality of the parathyroid glands ]
[ HP:0002944 ! Thoracolumbar scoliosis ] is_a [ HP:0003468 ! Abnormalities of the vertebrae ]
[ HP:0002978 ! Knee contractures ] is_a [ HP:0005750 ! Contractures of lower limbs ]
[ HP:0002987 ! Elbow contractures ] is_a [ HP:0003121 ! Limb contractures ]
[ HP:0003034 ! Diaphyseal sclerosis ] is_a [ HP:0006504 ! Abnormality involving the diaphyses of the limbs ]
[ HP:0003038 ! Fibular hypoplasia ] is_a [ HP:0006381 ! Rudimentary fibula ]
[ HP:0003044 ! Shoulder contractures ] is_a [ HP:0003121 ! Limb contractures ]
[ HP:0003059 ! Abnormality of the radioulnar joints ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0003090 ! Small capital femoral epiphyses ] is_a [ HP:0010585 ! Small epiphyses ]
[ HP:0003099 ! Fibular overgrowth ] is_a [ HP:0003703 ! Calf hypertrophy ]
[ HP:0003169 ! Small iliac wings ] is_a [ HP:0002866 ! Hypoplastic iliac wings ]
[ HP:0003174 ! Abnormality of the ischial bones ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0003177 ! Square iliac bones ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0003183 ! Wide pubic symphysis ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0003212 ! Increased IgE levels ] is_a [ HP:0004314 ! Increased immunoglobulin levels ]
[ HP:0003261 ! Increased IgA levels ] is_a [ HP:0004314 ! Increased immunoglobulin levels ]
[ HP:0003311 ! Hypoplastic odontoid process ] is_a [ HP:0004613 ! Small odontoid process ]
[ HP:0003319 ! Abnormality of the cervical spine ] is_a [ HP:0003468 ! Abnormalities of the vertebrae ]
[ HP:0003358 ! Elevated white blood cell cystine ] is_a [ HP:0001881 ! Abnormality of leukocytes ]
[ HP:0003371 ! Enlarged capital femoral epiphyses ] is_a [ HP:0010580 ! Enlarged epiphyses ]
[ HP:0003371 ! Enlarged capital femoral epiphyses ] is_a [ HP:0010589 ! Abnormality of the proximal femoral epiphysis ]
[ HP:0003374 ! Small proximal femoral epiphyses ] is_a [ HP:0010585 ! Small epiphyses ]
[ HP:0003413 ! Atlantoaxial abnormality ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0003567 ! Mucopolysacchariduria ] is_a [ HP:0003110 ! Urinary laboratory abnormality ]
[ HP:0003641 ! Hemoglobinuria ] is_a [ HP:0003110 ! Urinary laboratory abnormality ]
[ HP:0003651 ! Presence of foam cells ] is_a [ HP:0004311 ! Abnormality of macrophages ]
[ HP:0003692 ! Hip girdle muscle weakness (usually presenting symptom) ] is_a [ HP:0007340 ! Lower limb muscle weakness ]
[ HP:0003795 ! Short middle phalanges (feet) ] is_a [ HP:0001855 ! Short phalanges (feet) ]
[ HP:0003835 ! Shoulder subluxation ] is_a [ HP:0003834 ! Shoulder dislocation ]
[ HP:0003840 ! Delayed maturation/ossification of the epiphyses of the upper limbs ] is_a [ HP:0001263 ! Developmental retardation ]
[ HP:0003845 ! Epihyseal plate abnormality of the upper limbs ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0003846 ! Wide/broad epiphyseal plates of the upper limbs ] is_a [ HP:0003904 ! Wide/broad epiphyses of the upper limbs ]
[ HP:0003850 ! Irregular metaphyses of the upper limbs ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0003856 ! Wide/broad metaphyses of the upper limbs ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0003881 ! Sclerosis (humeral) ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0003881 ! Sclerosis (humeral) ] is_a [ HP:0006392 ! Increased density of long bones ]
[ HP:0003894 ! Delayed maturation/delayed ossification of the humeral epiphyses ] is_a [ HP:0002663 ! Late ossifying epiphyses ]
[ HP:0003895 ! Flattened humeral epiphyses ] is_a [ HP:0003071 ! Flattened epiphyses ]
[ HP:0003898 ! Large humeral epiphyses ] is_a [ HP:0010580 ! Enlarged epiphyses ]
[ HP:0003902 ! Stippled ossification of the humeral epiphyses ] is_a [ HP:0002658 ! Stippled epiphyses ]
[ HP:0003902 ! Stippled ossification of the humeral epiphyses ] is_a [ HP:0003897 ! Irregular ossification of the humeral epiphyses ]
[ HP:0003905 ! Abnormality of the humeral epiphyseal plate ] is_a [ HP:0003845 ! Epihyseal plate abnormality of the upper limbs ]
[ HP:0003907 ! Abnormality of the humeral metaphyses ] is_a [ HP:0000944 ! Abnormality of the metaphyses ]
[ HP:0003910 ! Expanded humeral metaphyses ] is_a [ HP:0003051 ! Enlarged metaphyses ]
[ HP:0003910 ! Expanded humeral metaphyses ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0003917 ! Pointed humeral metaphysis ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0003923 ! Square humeral metaphysis ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0003925 ! Wide/broad humeral metaphysis ] is_a [ HP:0003856 ! Wide/broad metaphyses of the upper limbs ]
[ HP:0003926 ! Abnormality of the humeral diaphysis ] is_a [ HP:0000940 ! Abnormality of the diaphyses ]
[ HP:0003933 ! Sclerosis of humeral diaphysis ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0003933 ! Sclerosis of humeral diaphysis ] is_a [ HP:0006440 ! Increased density of long bone diaphyses ]
[ HP:0003947 ! Delayed maturation/delayed ossification of the epiphyses of the elbow ] is_a [ HP:0002663 ! Late ossifying epiphyses ]
[ HP:0003949 ! Abnormality of the elbow metaphyses ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0003973 ! Wide/broad radioulnar joints ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0003991 ! Osteosclerosis of the ulna ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0003991 ! Osteosclerosis of the ulna ] is_a [ HP:0006392 ! Increased density of long bones ]
[ HP:0003992 ! Slender ulna ] is_a [ HP:0003100 ! Thin long bones ]
[ HP:0004000 ! Chevron-shaped/cone-shaped radial epiphyses ] is_a [ HP:0010579 ! Cone-shaped epiphyses ]
[ HP:0004002 ! Flattened radial epiphyses ] is_a [ HP:0003071 ! Flattened epiphyses ]
[ HP:0004004 ! Irregular radial epiphyses ] is_a [ HP:0003842 ! Irregular epiphyses of the upper limbs ]
[ HP:0004005 ! Large radial epiphyses ] is_a [ HP:0010580 ! Enlarged epiphyses ]
[ HP:0004006 ! Round radial epiphyses ] is_a [ HP:0003843 ! Round epiphyses of the upper limbs ]
[ HP:0004007 ! Sclerotic radial epiphyses ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0004010 ! Small radial epiphyses ] is_a [ HP:0003844 ! Small epiphyses of the upper limbs ]
[ HP:0004014 ! Wide/broad radial epiphyseal plates ] is_a [ HP:0003904 ! Wide/broad epiphyses of the upper limbs ]
[ HP:0004015 ! Abnormality of radial metaphyses ] is_a [ HP:0000944 ! Abnormality of the metaphyses ]
[ HP:0004019 ! Irregular radial metaphysis ] is_a [ HP:0003025 ! Irregular metaphyses ]
[ HP:0004019 ! Irregular radial metaphysis ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0004027 ! Abnormality of radial diaphysis ] is_a [ HP:0000940 ! Abnormality of the diaphyses ]
[ HP:0004032 ! Abnormality of the olecranon ] is_a [ HP:0005930 ! Abnormality of the epiphyses ]
[ HP:0004034 ! Irregular olecranon ] is_a [ HP:0003842 ! Irregular epiphyses of the upper limbs ]
[ HP:0004039 ! Abnormality of ulnar metaphysis ] is_a [ HP:0000944 ! Abnormality of the metaphyses ]
[ HP:0004042 ! Irregular ulnar metaphysis ] is_a [ HP:0003025 ! Irregular metaphyses ]
[ HP:0004042 ! Irregular ulnar metaphysis ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0004043 ! Lytic defects of ulnar metaphysis ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0004044 ! Pointed ulnar metaphysis ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0004045 ! Sloping ulnar metaphysis ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0004047 ! Wide/broad ulnar metaphysis ] is_a [ HP:0003856 ! Wide/broad metaphyses of the upper limbs ]
[ HP:0004153 ! Overgrowth of middle finger ] is_a [ HP:0004099 ! Finger overgrowth ]
[ HP:0004180 ! Hypoplastic/small distal phalanx of the 3rd finger ] is_a [ HP:0006132 ! Very short distal phalanges ]
[ HP:0004237 ! Large carpal bones ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004247 ! Small scaphoid ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004255 ! Small trapezium ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004258 ! Small trapezoid bone ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004260 ! Large hamate bone ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004263 ! Large capitate bone ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004279 ! Hypoplastic hand ] is_a [ HP:0001165 ! Small hands ]
[ HP:0004334 ! Dermal atrophy ] is_a [ HP:0008065 ! Aplasia/Hypoplasia of the skin ]
[ HP:0004337 ! Abnormality of amino acid metabolism ] is_a [ HP:0004354 ! Abnormality of carboxylic acid metabolism ]
[ HP:0004355 ! Abnormality of proteoglycan metabolism ] is_a [ HP:0004367 ! Abnormality of glycoprotein metabolism ]
[ HP:0004408 ! Abnormality of the sense of smell ] is_a [ HP:0002302 ! Abnormality of cognition ]
[ HP:0004462 ! abnormal or absent auditory nerve and brainstem responses ] is_a [ HP:0004570 ! Increased vertebral height ]
[ HP:0004498 ! prominent, broad nasal bridge ] is_a [ HP:0000439 ! Flat, broad nasal bridge ]
[ HP:0004500 ! Broad and high nasal bridge ] is_a [ HP:0000439 ! Flat, broad nasal bridge ]
[ HP:0004501 ! broad upturned nasal tip ] is_a [ HP:0000445 ! Broad nose ]
[ HP:0004576 ! Sclerotic vertebral endplates ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0004583 ! mild irregularity of vertebral endplates ] is_a [ HP:0005719 ! Mild vertebral anomalies ]
[ HP:0004593 ! severe, progressive kyphoscoliosis ] is_a [ HP:0002769 ! Severe kyphosis ]
[ HP:0004593 ! severe, progressive kyphoscoliosis ] is_a [ HP:0002770 ! Severe scoliosis ]
[ HP:0004666 ! Broad and depressed nasal bridge ] is_a [ HP:0000439 ! Flat, broad nasal bridge ]
[ HP:0004686 ! short third, fourth, fifth metatarsals ] is_a [ HP:0004704 ! short 4th and 5th metatarsals ] entailed: [ HP:0004686 ! short third, fourth, fifth metatarsals ] has_part [ HP:0004704 ! short 4th and 5th metatarsals ]
[ HP:0004687 ! hallucal symphalangism ] is_a [ HP:0001770 ! Toe syndactyly ]
[ HP:0004687 ! hallucal symphalangism ] is_a [ HP:0001844 ! Abnormality of the hallux ]
[ HP:0004688 ! Irregular tarsal bones ] is_a [ HP:0009132 ! Abnormality of bone mineral density involving tarsal bones ]
[ HP:0004691 ! 2-3 toe syndactyly ] is_a [ HP:0010319 ! Abnormality of the 2nd toe ]
[ HP:0004701 ! Hypoplastic toes ] is_a [ HP:0008135 ! Hypoplastic feet ]
[ HP:0004719 ! enlarged, hyperechogenic kidneys ] is_a [ HP:0004712 ! Malrotation of the kidney ]
[ HP:0004962 ! Thoracic aorta calcification ] is_a [ HP:0004963 ! Calcifications of the aorta ]
[ HP:0004976 ! Dislocations of the knees ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0004992 ! Dislocations of the wrists ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0005004 ! Flattened proximal radial epiphyses ] is_a [ HP:0010596 ! Abnormality of the proximal radial epiphysis ]
[ HP:0005007 ! small, flat irregularly ossified epiphyses ] is_a [ HP:0005023 ! small, flattened irregular epiphyses ]
[ HP:0005013 ! Dysplastic distal radial epiphyses ] is_a [ HP:0002656 ! Epiphyseal dysplasia ]
[ HP:0005019 ! Diaphyseal thickening ] is_a [ HP:0006504 ! Abnormality involving the diaphyses of the limbs ]
[ HP:0005023 ! small, flattened irregular epiphyses ] is_a [ HP:0004982 ! flat, irregular epiphyses ]
[ HP:0005067 ! Proximal fibular overgrowth ] is_a [ HP:0010580 ! Enlarged epiphyses ]
[ HP:0005067 ! Proximal fibular overgrowth ] is_a [ HP:0010594 ! Abnormality of the proximal fibular epiphysis ]
[ HP:0005093 ! Absent proximal radial epiphyses ] is_a [ HP:0010577 ! Absent epiphyses ]
[ HP:0005186 ! Synovial hypertrophy ] is_a [ HP:0003037 ! Enlarged joints ]
[ HP:0005198 ! Stiff interphalangeal joints ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0005210 ! Colon hypoplastic ] is_a [ HP:0004388 ! Microcolon ]
[ HP:0005214 ! Intestinal obstruction ] is_a [ HP:0002242 ! Abnormality of the intestines ]
[ HP:0005230 ! Biliary tract obstruction ] is_a [ HP:0004796 ! Gastrointestinal obstruction ]
[ HP:0005240 ! Esophageal obstruction ] is_a [ HP:0002031 ! Abnormality of the esophagus ]
[ HP:0005247 ! Abdominal muscular hypoplasia ] is_a [ HP:0009004 ! Muscle hypoplasia ]
[ HP:0005256 ! Unilateral hypoplasia or absence of pectoralis major muscle ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0005257 ! Thoracic hypoplasia ] is_a [ HP:0001590 ! Small chest ]
[ HP:0005278 ! Hypoplastic nasal tip ] is_a [ HP:0009924 ! Aplasia/Hypoplasia involving the nose ]
[ HP:0005320 ! Lack of facial subcutaneous fat ] is_a [ HP:0000292 ! Loss of facial adipose tissue ]
[ HP:0005320 ! Lack of facial subcutaneous fat ] is_a [ HP:0008887 ! Adipose tissue loss ]
[ HP:0005357 ! Defective B cell differentiation ] is_a [ HP:0005384 ! Defective B cell activation ]
[ HP:0005441 ! Sclerotic cranial sutures ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0005442 ! Widely patent coronal suture ] is_a [ HP:0003037 ! Enlarged joints ]
[ HP:0005442 ! Widely patent coronal suture ] is_a [ HP:0003794 ! Open sutures ]
[ HP:0005466 ! Hypoplastic frontal bones ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0005476 ! Widely patent sagittal suture ] is_a [ HP:0003037 ! Enlarged joints ]
[ HP:0005476 ! Widely patent sagittal suture ] is_a [ HP:0003794 ! Open sutures ]
[ HP:0005486 ! Small fontanelles ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0005556 ! Abnormality of the metopic suture ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0005610 ! Hypoplastic big toes ] is_a [ HP:0008362 ! Aplasia/Hypoplasia of the hallux ]
[ HP:0005613 ! Aplasia/hypoplasia of the femur ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0005628 ! Short fourth toe proximal phalanx ] is_a [ HP:0001855 ! Short phalanges (feet) ]
[ HP:0005649 ! Very short fifth finger middle phalanx ] is_a [ HP:0009577 ! Hypoplastic/small middle phalanx of the 2nd finger ]
[ HP:0005687 ! Deformed humeral heads ] is_a [ HP:0003887 ! Abnormality of the humeral heads ]
[ HP:0005693 ! Disproportionately tall vertebral bodies ] is_a [ HP:0004570 ! Increased vertebral height ]
[ HP:0005715 ! Flattened knee epiphyses ] is_a [ HP:0002815 ! Abnormality of the knees ]
[ HP:0005736 ! Hypoplastic tibia ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0005740 ! Small iliac bodies ] is_a [ HP:0008824 ! Hypoplastic iliac body ]
[ HP:0005745 ! Congenital foot contractures ] is_a [ HP:0001760 ! Abnormality of the feet ]
[ HP:0005750 ! Contractures of lower limbs ] is_a [ HP:0002814 ! Abnormality of the lower limbs ]
[ HP:0005750 ! Contractures of lower limbs ] is_a [ HP:0003121 ! Limb contractures ]
[ HP:0005754 ! Hypoplastic metatarsals ] is_a [ HP:0008089 ! Anomalous fifth metatarsal ]
[ HP:0005754 ! Hypoplastic metatarsals ] is_a [ HP:0008135 ! Hypoplastic feet ]
[ HP:0005774 ! Absent middle phalanges of fingers 2 and 5 ] is_a [ HP:0005760 ! Index fingers short with absent middle phalanges ]
[ HP:0005782 ! Mild flattening and biconcavity of the vertebral bodies ] is_a [ HP:0003321 ! Biconcave flattened vertebrae ] entailed: [ HP:0005782 ! Mild flattening and biconcavity of the vertebral bodies ] has_part [ HP:0003321 ! Biconcave flattened vertebrae ]
[ HP:0005797 ! Syndactyly of second to fourth fingers ] is_a _:3_4_finger_syndactyly
[ HP:0005824 ! Clinodactyly of second toes ] is_a [ HP:0010319 ! Abnormality of the 2nd toe ]
[ HP:0005825 ! Mixed sclerosis of humeral metaphyses ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0005825 ! Mixed sclerosis of humeral metaphyses ] is_a _:sclerotic_metaphysis
[ HP:0005879 ! Congenital finger flexion contractures ] is_a [ HP:0001167 ! Abnormality of the fingers ]
[ HP:0005896 ! Widened, irregular, sclerotic metaphyses ] is_a [ HP:0004979 ! Sclerotic, widened metaphyses ] entailed: [ HP:0005896 ! Widened, irregular, sclerotic metaphyses ] has_part [ HP:0004979 ! Sclerotic, widened metaphyses ]
[ HP:0005916 ! Abnormal metacarpal morphology ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0005923 ! Abnormalities of the metaphyses of the hand ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0005954 ! Pulmonary capillary hemangiomatosis ] is_a [ HP:0005306 ! Capillary hemangiomas ]
[ HP:0005959 ! Impaired gluconeogenesis ] is_a [ HP:0004354 ! Abnormality of carboxylic acid metabolism ]
[ HP:0005995 ! Decreased adipose tissue around neck ] is_a [ HP:0000464 ! Neck abnormality ] entailed: [ HP:0005995 ! Decreased adipose tissue around neck ] has_part [ HP:0000464 ! Neck abnormality ]
[ HP:0006018 ! 2-3 and 3-4 finger syndactyly ] is_a [ HP:0005797 ! Syndactyly of second to fourth fingers ]
[ HP:0006026 ! Rounded epiphyses ] is_a [ HP:0003843 ! Round epiphyses of the upper limbs ]
[ HP:0006028 ! Metaphyseal cupping of metacarpals ] is_a [ HP:0001163 ! Abnormality of the metacarpal bones ]
[ HP:0006030 ! Short, wide phalanges ] is_a [ HP:0009381 ! Hypoplastic/small fingers ]
[ HP:0006030 ! Short, wide phalanges ] is_a [ HP:0009768 ! Broad phalanges of the hand ]
[ HP:0006040 ! Long second metacarpal ] is_a [ HP:0010493 ! Increased length of metacarpals ]
[ HP:0006059 ! Cone-shaped metacarpal epiphyses ] is_a [ HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand ]
[ HP:0006072 ! Small, irregular carpals ] is_a [ HP:0006029 ! Small, irregular carpal bones ]
[ HP:0006073 ! Short, broad proximal phalanx of thumb ] is_a [ HP:0001500 ! Broad fingers ]
[ HP:0006082 ! Absent distal and middle phalanges ] is_a [ HP:0005760 ! Index fingers short with absent middle phalanges ]
[ HP:0006094 ! Finger joint hypermobility ] is_a [ HP:0001167 ! Abnormality of the fingers ]
[ HP:0006096 ! Contractures of the hands ] is_a [ HP:0006402 ! Distal shortening of limbs ]
[ HP:0006101 ! Finger syndactyly ] is_a [ HP:0001167 ! Abnormality of the fingers ]
[ HP:0006134 ! Enlarged metacarpal epiphyses ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0006134 ! Enlarged metacarpal epiphyses ] is_a [ HP:0010231 ! Enlarged epiphyses of the phalanges of the hand ]
[ HP:0006137 ! Finger and wrist contractures ] is_a [ HP:0001167 ! Abnormality of the fingers ]
[ HP:0006151 ! Thumb brachydactyly ] is_a [ HP:0001172 ! Abnormality of the thumb ]
[ HP:0006152 ! Proximal symphalangism ] is_a [ HP:0009834 ! Abnormality of the proximal phalanges of the hand ]
[ HP:0006163 ! Enlarged metacarpophalangeal joints ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0006176 ! Two carpal ossification centers present at birth ] is_a [ HP:0004232 ! Accessory carpal bones ]
[ HP:0006213 ! Thin proximal phalanges with broad epiphyses ] is_a [ HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand ]
[ HP:0006237 ! Prominent interphalangeal joints ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0006247 ! Enlarged interphalangeal joints ] is_a [ HP:0003037 ! Enlarged joints ]
[ HP:0006247 ! Enlarged interphalangeal joints ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0006247 ! Enlarged interphalangeal joints ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0006253 ! Swelling of proximal interphalangeal joints ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0006334 ! Hypoplastic deciduous teeth ] is_a [ HP:0006318 ! Small deciduous teeth ]
[ HP:0006349 ! Absent permanent teeth ] is_a [ HP:0000701 ! Loss of teeth ]
[ HP:0006361 ! Irregular femoral epiphyses ] is_a [ HP:0006499 ! Abnormality of femoral epiphyses ]
[ HP:0006386 ! Hypoplastic distal radial epiphyses ] is_a [ HP:0003844 ! Small epiphyses of the upper limbs ]
[ HP:0006387 ! Wide distal metaphysis of femur ] is_a _:abnormal_distal_femoral_metaphysis
[ HP:0006398 ! Mildly flattened distal femoral epiphyses ] is_a [ HP:0003071 ! Flattened epiphyses ]
[ HP:0006429 ! Broad femoral neck ] is_a [ HP:0008804 ! Broad femoral heads and necks ]
[ HP:0006438 ! Large distal femoral epiphyses ] is_a [ HP:0010580 ! Enlarged epiphyses ]
[ HP:0006442 ! Hypoplasia of proximal fibula ] is_a [ HP:0010585 ! Small epiphyses ]
[ HP:0006453 ! Laterally displaced femoral heads ] is_a [ HP:0003368 ! Abnormality of the femoral head ]
[ HP:0006461 ! Proximal femoral epiphysiolysis ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0006462 ! Generalized bone demineralization ] is_a [ HP:0000938 ! Osteopenia ]
[ HP:0006466 ! Contractures of the ankles ] is_a [ HP:0005750 ! Contractures of lower limbs ]
[ HP:0006601 ! Anteriorly splayed ribs ] is_a _:flared_rib
[ HP:0006606 ! Irregular chondrocostal junctions ] is_a [ HP:0004348 ! Abnormality of bone mineral density. ]
[ HP:0006632 ! Hypoplastic glenoid fossa ] is_a [ HP:0000882 ! Hypoplastic scapulae ]
[ HP:0006633 ! Glenoid hypoplasia ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0006638 ! Midclavicular aplasia ] is_a [ HP:0006608 ! Midclavicular hypoplasia ]
[ HP:0006638 ! Midclavicular aplasia ] is_a [ HP:0006660 ! Aplastic clavicles ]
[ HP:0006642 ! Large sternal ossification centers ] is_a [ HP:0006624 ! Sternal ossification center abnormalities ]
[ HP:0006643 ! Fused sternal ossification centers ] is_a [ HP:0006624 ! Sternal ossification center abnormalities ]
[ HP:0006651 ! Short, broad clavicles ] is_a [ HP:0005902 ! Straight and short clavicles ]
[ HP:0006707 ! Abnormality of the hepatic vasculature ] is_a [ HP:0002597 ! Abnormality of the vasculature ]
[ HP:0006785 ! Limb-girdle muscular dystrophy ] is_a [ HP:0003560 ! Muscular dystrophy ]
[ HP:0006895 ! Lower limb hypertonia ] is_a [ HP:0002061 ! Lower limb spasticity ]
[ HP:0006940 ! Distal muscle weakness and atrophy ] is_a [ HP:0009012 ! Muscle weakness and atrophy ]
[ HP:0006956 ! Dilation of lateral ventricles ] is_a [ HP:0007173 ! Enlarged lateral ventricles ]
[ HP:0006959 ! Proximal spinal muscular atrophy ] is_a [ HP:0007344 ! Atrophy/Degeneration involving the spinal cord ]
[ HP:0006986 ! Upper limb spasticity ] is_a [ HP:0002817 ! Abnormality of the upper limbs ]
[ HP:0007126 ! Proximal amyotrophy ] is_a [ HP:0008956 ! Proximal lower limb muscle atrophy ]
[ HP:0007357 ! Occipital meningoencephalocele ] is_a [ HP:0006888 ! Meningoencephalocele ]
[ HP:0007367 ! Atrophy/Degeneration affecting the central nervous system ] is_a [ HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system ]
[ HP:0007387 ! Hypoplastic sweat glands ] is_a [ HP:0008065 ! Aplasia/Hypoplasia of the skin ]
[ HP:0007485 ! Absence of subcutaneous fat ] is_a [ HP:0008887 ! Adipose tissue loss ]
[ HP:0007531 ! Redundant, wrinkled skin of palms ] is_a [ HP:0007392 ! Excessive wrinkled skin ]
[ HP:0007626 ! Mandibular osteomyelitis ] is_a [ HP:0000277 ! Abnormality of the mandible ]
[ HP:0007712 ! Choroidal dystrophy ] is_a [ HP:0001122 ! Aplasia/Hypoplasia of the choroid ]
[ HP:0007715 ! Weak extraocular muscles ] is_a [ HP:0010628 ! Facial muscle weakness ]
[ HP:0007752 ! Decreased retinal pigmentation ] is_a [ HP:0007703 ! Abnormal retinal pigmentation ]
[ HP:0007754 ! Macular dystrophy ] is_a [ HP:0008059 ! Aplasia/Hypoplasia of the macula ]
[ HP:0007905 ! Abnormal iris vasculature ] is_a [ HP:0001163 ! Abnormality of the metacarpal bones ]
[ HP:0007905 ! Abnormal iris vasculature ] is_a [ HP:0002597 ! Abnormality of the vasculature ]
[ HP:0007958 ! Optic atrophy from cranial nerve compression ] is_a [ HP:0007367 ! Atrophy/Degeneration affecting the central nervous system ]
[ HP:0008083 ! 2nd-5th toe middle phalangeal hypoplasia ] is_a [ HP:0000152 ! Head and neck abnormality ] entailed: [ HP:0008083 ! 2nd-5th toe middle phalangeal hypoplasia ] has_part [ HP:0000152 ! Head and neck abnormality ]
[ HP:0008100 ! Absent/hypoplastic third toe ] is_a [ HP:0010320 ! Abnormality of the 3rd toe ]
[ HP:0008103 ! Delayed tarsal ossification ] is_a [ HP:0001263 ! Developmental retardation ]
[ HP:0008105 ! Short, broad first toe ] is_a [ HP:0001861 ! Short, broad halluces ]
[ HP:0008114 ! Metatarsal diaphyseal endosteal sclerosis ] is_a [ HP:0002796 ! Osteosclerosis ]
[ HP:0008128 ! Flexion contractures of the toes ] is_a [ HP:0001767 ! Short toes ]
[ HP:0008213 ! Pituitary gonadotropin deficiency ] is_a [ HP:0000838 ! Abnormality of the pituitary gland ]
[ HP:0008335 ! Renal aminoaciduria ] is_a [ HP:0000077 ! Abnormality of the kidneys ]
[ HP:0008366 ! Contractures involving the joints of the feet ] is_a [ HP:0005750 ! Contractures of lower limbs ]
[ HP:0008401 ! Onychogryposis of toenails ] is_a [ HP:0008388 ! Abnormality of the toenails ]
[ HP:0008419 ! Degeneration of intervertebral disks ] is_a [ HP:0002763 ! Abnormality of cartilage ]
[ HP:0008434 ! Hypoplastic cervical vertebrae ] is_a [ HP:0008417 ! Vertebral hypoplasia ]
[ HP:0008460 ! Hypoplastic spinal processes ] is_a [ HP:0008516 ! Abnormality of the vertebral spinous processes ]
[ HP:0008479 ! Hypoplastic vertebral bodies ] is_a [ HP:0002773 ! Small vertebral bodies ]
[ HP:0008482 ! Asymmetry of spinal facet joints ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0008572 ! External ear malformation ] is_a [ HP:0000377 ! Abnormal form of ears ]
[ HP:0008589 ! Hypoplastic helices ] is_a [ HP:0000380 ! Abnormal helices ]
[ HP:0008593 ! Prominent antitragus ] is_a [ HP:0000412 ! Prominent ears ]
[ HP:0008752 ! Laryngeal cartilage malformations ] is_a [ HP:0002763 ! Abnormality of cartilage ]
[ HP:0008779 ! Hypoplastic femoral neck ] is_a [ HP:0003367 ! Abnormality of the femoral neck ]
[ HP:0008785 ! Delayed ossification of pubic rami ] is_a [ HP:0008788 ! Delayed pubic bone ossification ]
[ HP:0008788 ! Delayed pubic bone ossification ] is_a [ HP:0001263 ! Developmental retardation ]
[ HP:0008789 ! Cone-shaped capital femoral epiphyses ] is_a [ HP:0010589 ! Abnormality of the proximal femoral epiphysis ]
[ HP:0008790 ! Widened proximal femoral metaphyses ] is_a _:abnormal_proximal_femoral_metaphysis
[ HP:0008795 ! Delayed mineralization of pubic bone ] is_a [ HP:0008788 ! Delayed pubic bone ossification ]
[ HP:0008796 ! Externally rotated hips ] is_a [ HP:0003272 ! Abnormality of the hip ]
[ HP:0008801 ! Lesser trochanter hypoplasia ] is_a [ HP:0006500 ! Abnormality involving the epiphyses of the lower limbs ]
[ HP:0008801 ! Lesser trochanter hypoplasia ] is_a [ HP:0010585 ! Small epiphyses ]
[ HP:0008802 ! Hypoplastic femoral head ] is_a [ HP:0008839 ! Hypoplastic pelvis ]
[ HP:0008811 ! Flattened femoral epiphyses ] is_a [ HP:0003071 ! Flattened epiphyses ]
[ HP:0008812 ! Flattened femoral heads ] is_a [ HP:0003368 ! Abnormality of the femoral head ]
[ HP:0008816 ! Hypoplastic pelvic bones ] is_a [ HP:0008839 ! Hypoplastic pelvis ]
[ HP:0008824 ! Hypoplastic iliac body ] is_a [ HP:0005740 ! Small iliac bodies ]
[ HP:0008826 ! Dislocated femoral heads ] is_a [ HP:0003368 ! Abnormality of the femoral head ]
[ HP:0008828 ! Delayed ossification proximal femoral epiphyses ] is_a [ HP:0002663 ! Late ossifying epiphyses ]
[ HP:0008829 ! Delayed femoral head ossification ] is_a [ HP:0001263 ! Developmental retardation ]
[ HP:0008953 ! Pectoralis major muscle hypoplasia ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0008961 ! Proximal muscle weakness and wasting ] is_a [ HP:0009012 ! Muscle weakness and atrophy ]
[ HP:0008963 ! Tibialis weakness and atrophy ] is_a [ HP:0007340 ! Lower limb muscle weakness ]
[ HP:0008984 ! Neck muscle hypoplasia ] is_a [ HP:0009004 ! Muscle hypoplasia ]
[ HP:0008998 ! Pectoralis hypoplasia ] is_a [ HP:0009004 ! Muscle hypoplasia ]
[ HP:0008998 ! Pectoralis hypoplasia ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0009002 ! Loss of subcutaneous truncal adipose tissue ] is_a [ HP:0008887 ! Adipose tissue loss ]
[ HP:0009011 ! Hypoplasia of serratus anterior muscle ] is_a [ HP:0001435 ! Abnormality of the shoulder musculature ]
[ HP:0009011 ! Hypoplasia of serratus anterior muscle ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0009026 ! Hypoplasia of latissimus dorsi muscle ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0009063 ! Muscle weakness, distal, progressive ] is_a [ HP:0003323 ! Muscle weakness, progressive ]
[ HP:0009073 ! Muscle weakness, progressive, proximal ] is_a [ HP:0003323 ! Muscle weakness, progressive ]
[ HP:0009113 ! Diaphragmatic weakness ] is_a [ HP:0001324 ! Muscle weakness ]
[ HP:0009126 ! Increased adipose tissue ] is_a [ HP:0009025 ! Increased connective tissue ]
[ HP:0009129 ! Amyotrophy involving the upper limbs ] is_a [ HP:0001446 ! Abnormality of the musculature of the upper limbs ]
[ HP:0009149 ! Triangular epiphysis of the distal phalanx of the 5th finger ] is_a [ HP:0009245 ! Triangular shaped distal phalanx of the 5th finger ]
[ HP:0009154 ! Triangular epiphysis of the proximal phalanx of the 5th finger ] is_a [ HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger ]
[ HP:0009158 ! Enlarged epiphysis of the proximal phalanx of the 5th finger ] is_a [ HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009169 ! Broad middle phalanx of the 5th finger ] is_a [ HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger ]
[ HP:0009172 ! Abnormality of the phalanges of the 4th finger ] is_a [ HP:0005918 ! Abnormality of the phalanges of the hand ]
[ HP:0009183 ! Joint contractures of the 5th finger ] is_a [ HP:0004213 ! Abnormality of the phalanges of the 5th finger ]
[ HP:0009186 ! Contracture of the metacarpophalangeal joint of the 5th finger ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0009189 ! Fragmentation of the metacarpal epiphyses ] is_a [ HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand ]
[ HP:0009190 ! Irregular epiphyses of the metacarpals ] is_a [ HP:0010233 ! Irregular epiphyses of the phalanges of the hand ]
[ HP:0009191 ! Ivory epiphyses of the metacarpals ] is_a [ HP:0010234 ! Ivory epiphyses of the phalanges of the hand ]
[ HP:0009194 ! Small epiphyses of the metacarpals ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0009194 ! Small epiphyses of the metacarpals ] is_a [ HP:0010236 ! Small epiphyses of the phalanges of the hand ]
[ HP:0009195 ! Stippling of the epiphyses of the metacarpals ] is_a [ HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand ]
[ HP:0009197 ! Bracket epiphysis of the proximal phalanx of the 5th finger ] is_a [ HP:0009204 ! Bracket epiphysis of the middle phalanx of the 5th finger ]
[ HP:0009204 ! Bracket epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009205 ! Cone-shaped epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0009155 ! Cone-shaped epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009206 ! Enlarged epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0009158 ! Enlarged epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009211 ! Small epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0009159 ! Small epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009213 ! Triangular epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0009154 ! Triangular epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009213 ! Triangular epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0009182 ! Triangular shaped middle phalanx of the 5th finger ]
[ HP:0009224 ! Triangular epiphysis of the middle phalanx of the 4th finger ] is_a [ HP:0009309 ! Triangular shaped middle phalanx of the 4th finger ]
[ HP:0009227 ! Broad proximal phalanx of the 5th finger ] is_a [ HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009227 ! Broad proximal phalanx of the 5th finger ] is_a _:broad_epiphyses_of_the_proximal_phalanges_of_the_hand
[ HP:0009237 ! Hypoplastic/small 5th finger ] is_a [ HP:0004213 ! Abnormality of the phalanges of the 5th finger ]
[ HP:0009240 ! Broad distal phalanx of the 5th finger ] is_a [ HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger ]
[ HP:0009251 ! Bracket epiphysis of the distal phalanx of the 4th finger ] is_a [ HP:0009187 ! Bracket epiphysis of the distal phalanx of the 5th finger ]
[ HP:0009260 ! Triangular epiphysis of the distal phalanx of the 4th finger ] is_a [ HP:0009306 ! Triangular shaped distal phalanx of the 4th finger ]
[ HP:0009271 ! Triangular epiphysis of the proximal phalanx of the 4th finger ] is_a [ HP:0009315 ! Triangular shaped proximal phalanx of the 4th finger ]
[ HP:0009274 ! Joint contractures of the 4th finger ] is_a [ HP:0009172 ! Abnormality of the phalanges of the 4th finger ]
[ HP:0009277 ! Contracture of the metacarpophalangeal joint of the 4th finger ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0009290 ! Hypoplastic/small distal phalanx of the 4th finger ] is_a [ HP:0004196 ! Short phalanges of the ring finger ]
[ HP:0009290 ! Hypoplastic/small distal phalanx of the 4th finger ] is_a [ HP:0006132 ! Very short distal phalanges ]
[ HP:0009292 ! Broad distal phalanx of the 4th finger ] is_a [ HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger ]
[ HP:0009293 ! Broad middle phalanx of the 4th finger ] is_a [ HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger ]
[ HP:0009295 ! Hypoplastic/small middle phalanx of the 4th finger ] is_a [ HP:0004196 ! Short phalanges of the ring finger ]
[ HP:0009301 ! Hypoplastic/small proximal phalanx of the 4th finger ] is_a [ HP:0004196 ! Short phalanges of the ring finger ]
[ HP:0009310 ! Broad proximal phalanx of the 4th finger ] is_a [ HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger ]
[ HP:0009310 ! Broad proximal phalanx of the 4th finger ] is_a _:broad_epiphyses_of_the_proximal_phalanges_of_the_hand
[ HP:0009319 ! Joint contractures of the 3rd finger ] is_a [ HP:0009316 ! Abnormality of the phalanges of the 3rd finger ]
[ HP:0009345 ! Triangular epiphysis of the distal phalanx of the 3rd finger ] is_a [ HP:0009427 ! Triangular shaped distal phalanx of the 3rd finger ]
[ HP:0009374 ! Broad phalanges of the 5th finger ] is_a [ HP:0009152 ! Abnormality of the epiphyses of the 5th finger ]
[ HP:0009392 ! Triangular epiphyses of the 5th finger ] is_a [ HP:0009378 ! Triangular shaped phalanges of the 5th finger ]
[ HP:0009393 ! Absent epiphyses of the 4th finger ] is_a [ HP:0009172 ! Abnormality of the phalanges of the 4th finger ]
[ HP:0009394 ! Bracket epiphyses of the 4th finger ] is_a [ HP:0004192 ! Bracket epiphyses of the 4th finger ]
[ HP:0009399 ! Ivory epiphyses of the 4th finger ] is_a [ HP:0009172 ! Abnormality of the phalanges of the 4th finger ]
[ HP:0009402 ! Stippling of the epiphyses of 4th finger ] is_a [ HP:0009419 ! Stippling of the epiphyses of 3rd finger ]
[ HP:0009404 ! Broad phalanges of the 4th finger ] is_a [ HP:0009174 ! Abnormality of the epiphyses of the 4th finger ]
[ HP:0009419 ! Stippling of the epiphyses of 3rd finger ] is_a [ HP:0009402 ! Stippling of the epiphyses of 4th finger ]
[ HP:0009470 ! Contracture of the metacarpophalangeal joint of the 3rd finger ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0009473 ! Joint contractures involving the joints of the hand ] is_a [ HP:0003121 ! Limb contractures ]
[ HP:0009512 ! Triangular epiphysis of the distal phalanx of the 2nd finger ] is_a [ HP:0009564 ! Triangular shaped distal phalanx of the 2nd finger ]
[ HP:0009531 ! Pseudoepiphysis of the proximal phalanx of the 2nd finger ] is_a [ HP:0009417 ! Pseudoepiphyses of the 3rd finger ]
[ HP:0009537 ! Joint contractures of the 2nd finger ] is_a [ HP:0009541 ! Abnormality of the phalanges of the 2nd finger ]
[ HP:0009539 ! Contracture of the metacarpophalangeal joint of the 2nd finger ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger ] is_a [ HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger ] entailed: [ HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger ] has_part [ HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger ]
[ HP:0009566 ! Hypoplastic/small distal phalanx of the 2nd finger ] is_a [ HP:0006132 ! Very short distal phalanges ]
[ HP:0009624 ! Contractures of the carpometacarpal joint of the thumb ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0009625 ! Contractures of the metacarpophalangeal joint of the thumb ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0009659 ! Aplasia of the phalanges of the thumb ] is_a [ HP:0006151 ! Thumb brachydactyly ] entailed: [ HP:0009659 ! Aplasia of the phalanges of the thumb ] has_part [ HP:0006151 ! Thumb brachydactyly ]
[ HP:0009660 ! Hypoplastic/small phalanges of the thumb ] is_a [ HP:0006151 ! Thumb brachydactyly ] entailed: [ HP:0009660 ! Hypoplastic/small phalanges of the thumb ] has_part [ HP:0006151 ! Thumb brachydactyly ]
[ HP:0009739 ! Hypoplastic antihelix ] is_a [ HP:0008589 ! Hypoplastic helices ]
[ HP:0009742 ! Stiff shoulders ] is_a [ HP:0003043 ! Abnormality of the shoulder ]
[ HP:0009759 ! Neck pterygia ] is_a [ HP:0000464 ! Neck abnormality ] entailed: [ HP:0009759 ! Neck pterygia ] has_part [ HP:0000464 ! Neck abnormality ]
[ HP:0009770 ! Curved phalanges of the hand ] is_a [ HP:0006487 ! Bowing of the long bones ]
[ HP:0009783 ! Biceps aplasia ] is_a [ HP:0003634 ! Generalized amyoplasia ]
[ HP:0009785 ! Triceps aplasia ] is_a [ HP:0003634 ! Generalized amyoplasia ]
[ HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh ] is_a [ HP:0001439 ! Abnormality of the thigh ]
[ HP:0009788 ! Quadriceps aplasia ] is_a [ HP:0003634 ! Generalized amyoplasia ]
[ HP:0010005 ! Partial duplication of the middle phalanges of the hand ] is_a [ HP:0010003 ! Partial duplication of the proximal phalanges of the hand ]
[ HP:0010016 ! Bracket epiphysis of the 1st metacarpal ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0010017 ! Cone-shaped epiphysis of the 1st metacarpal ] is_a [ HP:0006059 ! Cone-shaped metacarpal epiphyses ]
[ HP:0010018 ! Enlarged epiphysis of the 1st metacarpal ] is_a [ HP:0006134 ! Enlarged metacarpal epiphyses ]
[ HP:0010019 ! Fragmentation of the epiphysis of the 1st metacarpal ] is_a [ HP:0009189 ! Fragmentation of the metacarpal epiphyses ]
[ HP:0010020 ! Irregular epiphysis of the 1st metacarpal ] is_a [ HP:0009190 ! Irregular epiphyses of the metacarpals ]
[ HP:0010021 ! Ivory epiphysis of the 1st metacarpal ] is_a [ HP:0009191 ! Ivory epiphyses of the metacarpals ]
[ HP:0010023 ! Small epiphysis of the 1st metacarpal ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0010024 ! Stippling of the epiphysis of the 1st metacarpal ] is_a [ HP:0009195 ! Stippling of the epiphyses of the metacarpals ]
[ HP:0010025 ! Triangular epiphysis of the 1st metacarpal ] is_a [ HP:0009171 ! Triangular epiphyses of the metacarpals ]
[ HP:0010027 ! Broad 1st metacarpal ] is_a [ HP:0001230 ! Broad metacarpals ]
[ HP:0010030 ! Osteolytic defects of the 1st metacarpal ] is_a [ HP:0001504 ! Metacarpal osteolysis ]
[ HP:0010063 ! Patchy sclerosis of the phalanges of the hallux ] is_a [ HP:0010060 ! Bullet-shaped phalanges of the hallux ]
[ HP:0010069 ! Bullet-shaped 1st metatarsal ] is_a [ HP:0010205 ! Bullet-shaped proximal phalanges of the toes ]
[ HP:0010072 ! Patchy sclerosis of the 1st metatarsal ] is_a [ HP:0010205 ! Bullet-shaped proximal phalanges of the toes ]
[ HP:0010077 ! Broad distal phalanx of the hallux ] is_a [ HP:0010086 ! Broad proximal phalanx of the hallux ]
[ HP:0010078 ! Bullet-shaped distal phalanx of the hallux ] is_a [ HP:0010087 ! Bullet-shaped proximal phalanx of the hallux ]
[ HP:0010079 ! Curved distal phalanx of the hallux ] is_a [ HP:0010088 ! Curved proximal phalanx of the hallux ]
[ HP:0010080 ! Osteolytic defects of the distal phalanx of the hallux ] is_a [ HP:0010089 ! Osteolytic defects of the proximal phalanx of the hallux ]
[ HP:0010081 ! Patchy sclerosis of the distal phalanx of the hallux ] is_a [ HP:0010087 ! Bullet-shaped proximal phalanx of the hallux ]
[ HP:0010082 ! Symphalangism affecting the distal phalanx of the hallux ] is_a [ HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux ]
[ HP:0010083 ! Triangular shaped distal phalanx of the hallux ] is_a [ HP:0010092 ! Triangular shaped proximal phalanx of the hallux ]
[ HP:0010090 ! Patchy sclerosis of the proximal phalanx of the hallux ] is_a [ HP:0010087 ! Bullet-shaped proximal phalanx of the hallux ]
[ HP:0010097 ! Partial duplication of the distal phalanx of the hallux ] is_a [ HP:0010095 ! Partial duplication of the proximal phalanx of the hallux ]
[ HP:0010099 ! Partial duplication of the 1st metatarsal ] is_a [ HP:0010098 ! Complete duplication of the 1st metatarsal ]
[ HP:0010102 ! Aplasia of the distal phalanx of the hallux ] is_a [ HP:0010106 ! Aplasia of the proximal phalanx of the hallux ]
[ HP:0010107 ! Hypoplastic/small proximal phalanx of the hallux ] is_a [ HP:0003795 ! Short middle phalanges (feet) ]
[ HP:0010111 ! Hypoplastic/small phalanges of the hallux ] is_a [ HP:0001855 ! Short phalanges (feet) ]
[ HP:0010117 ! Fragmentation of the epiphyses of the hallux ] is_a [ HP:0010119 ! Ivory epiphyses of the hallux ]
[ HP:0010119 ! Ivory epiphyses of the hallux ] is_a [ HP:0010122 ! Stippling of the epiphyses of the hallux ]
[ HP:0010119 ! Ivory epiphyses of the hallux ] is_a [ HP:0010166 ! Fragmentation of the epiphyses of the toes ]
[ HP:0010131 ! Fragmentation of the epiphysis of the proximal phalanx of the hallux ] is_a [ HP:0010133 ! Ivory epiphysis of the proximal phalanx of the hallux ]
[ HP:0010133 ! Ivory epiphysis of the proximal phalanx of the hallux ] is_a [ HP:0010136 ! Stippling of the epiphysis of the proximal phalanx of the hallux ]
[ HP:0010142 ! Fragmentation of the epiphysis of the distal phalanx of the hallux ] is_a [ HP:0010144 ! Ivory epiphysis of the distal phalanx of the hallux ]
[ HP:0010144 ! Ivory epiphysis of the distal phalanx of the hallux ] is_a [ HP:0010147 ! Stippling of the epiphysis of the distal phalanx of the hallux ]
[ HP:0010149 ! Absent epiphysis of the 1st metatarsal ] is_a [ HP:0010054 ! Abnormality of the 1st metatarsal ]
[ HP:0010151 ! Cone-shaped epiphysis of the 1st metatarsal ] is_a [ HP:0010115 ! Cone-shaped epiphyses of the hallux ]
[ HP:0010153 ! Fragmentation of the epiphysis of the 1st metatarsal ] is_a [ HP:0010155 ! Ivory epiphysis of the 1st metatarsal ]
[ HP:0010155 ! Ivory epiphysis of the 1st metatarsal ] is_a [ HP:0010158 ! Stippling of the epiphysis of the 1st metatarsal ]
[ HP:0010160 ! Abnormality of the epiphyses of the toes ] is_a [ HP:0010631 ! Abnormality of the epiphyses of the feet ]
[ HP:0010162 ! Absent epiphyses of the toes ] is_a [ HP:0010161 ! Abnormality of the phalanges of the toes ]
[ HP:0010176 ! Curved phalanges of the toes ] is_a [ HP:0006487 ! Bowing of the long bones ]
[ HP:0010186 ! Broad distal phalanges of the toes ] is_a [ HP:0010174 ! Broad phalanges of the toes ]
[ HP:0010188 ! Curved distal phalanges of the toes ] is_a [ HP:0010176 ! Curved phalanges of the toes ]
[ HP:0010189 ! Osteolytic defects of the distal phalanges of the toes ] is_a [ HP:0010177 ! Osteolytic defects of the phalanges of the toes ]
[ HP:0010191 ! Symphalangism affecting the distal phalanges of the toes ] is_a [ HP:0010179 ! Symphalangism affecting the phalanges of the toes ]
[ HP:0010192 ! Triangular shaped distal phalanges of the toes ] is_a [ HP:0010180 ! Triangular shaped phalanges of the toes ]
[ HP:0010193 ! Partial/complete duplication of the distal phalanges of the toes ] is_a [ HP:0010181 ! Partial/complete duplication of the phalanges of the toes ]
[ HP:0010195 ! Broad middle phalanges of the toes ] is_a [ HP:0010174 ! Broad phalanges of the toes ]
[ HP:0010196 ! Bullet-shaped middle phalanges of the toes ] is_a [ HP:0010175 ! Bullet-shaped phalanges of the toes ]
[ HP:0010197 ! Curved middle phalanges of the toes ] is_a [ HP:0010176 ! Curved phalanges of the toes ]
[ HP:0010198 ! Osteolytic defects of the middle phalanges of the toes ] is_a [ HP:0010177 ! Osteolytic defects of the phalanges of the toes ]
[ HP:0010200 ! Symphalangism affecting the middle phalanges of the toes ] is_a [ HP:0010179 ! Symphalangism affecting the phalanges of the toes ]
[ HP:0010201 ! Triangular shaped middle phalanges of the toes ] is_a [ HP:0010180 ! Triangular shaped phalanges of the toes ]
[ HP:0010202 ! Partial/complete duplication of the middle phalanges of the toes ] is_a [ HP:0010181 ! Partial/complete duplication of the phalanges of the toes ]
[ HP:0010204 ! Broad proximal phalanges of the toes ] is_a [ HP:0010174 ! Broad phalanges of the toes ]
[ HP:0010205 ! Bullet-shaped proximal phalanges of the toes ] is_a [ HP:0010175 ! Bullet-shaped phalanges of the toes ]
[ HP:0010206 ! Curved proximal phalanges of the toes ] is_a [ HP:0010176 ! Curved phalanges of the toes ]
[ HP:0010207 ! Osteolytic defects of the proximal phalanges of the toes ] is_a [ HP:0010177 ! Osteolytic defects of the phalanges of the toes ]
[ HP:0010209 ! Symphalangism affecting the proximal phalanges of the toes ] is_a [ HP:0010179 ! Symphalangism affecting the phalanges of the toes ]
[ HP:0010210 ! Triangular shaped proximal phalanges of the toes ] is_a [ HP:0010180 ! Triangular shaped phalanges of the toes ]
[ HP:0010211 ! Partial/complete duplication of the proximal phalanges of the toes ] is_a [ HP:0010181 ! Partial/complete duplication of the phalanges of the toes ]
[ HP:0010220 ! Abnormality of the epiphysis of the 2nd metacarpal ] is_a [ HP:0003839 ! Abnormality involving the epiphyses of the upper limbs ]
[ HP:0010224 ! Abnormality of the epiphysis of the 4th metacarpal ] is_a [ HP:0003839 ! Abnormality involving the epiphyses of the upper limbs ]
[ HP:0010228 ! Absent epiphyses of the phalanges of the hand ] is_a [ HP:0010577 ! Absent epiphyses ]
[ HP:0010229 ! Bracket epiphyses of the phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0010231 ! Enlarged epiphyses of the phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0010231 ! Enlarged epiphyses of the phalanges of the hand ] is_a [ HP:0010580 ! Enlarged epiphyses ]
[ HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand ] is_a [ HP:0003841 ! Fragmented epiphyses of the upper limbs ]
[ HP:0010233 ! Irregular epiphyses of the phalanges of the hand ] is_a [ HP:0003842 ! Irregular epiphyses of the upper limbs ]
[ HP:0010233 ! Irregular epiphyses of the phalanges of the hand ] is_a [ HP:0004348 ! Abnormality of bone mineral density. ]
[ HP:0010234 ! Ivory epiphyses of the phalanges of the hand ] is_a [ HP:0006392 ! Increased density of long bones ]
[ HP:0010234 ! Ivory epiphyses of the phalanges of the hand ] is_a [ HP:0010583 ! Ivory epiphyses ]
[ HP:0010236 ! Small epiphyses of the phalanges of the hand ] is_a [ HP:0003844 ! Small epiphyses of the upper limbs ]
[ HP:0010236 ! Small epiphyses of the phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand ] is_a [ HP:0002658 ! Stippled epiphyses ]
[ HP:0010238 ! Triangular epiphyses of the phalanges of the hand ] is_a [ HP:0009774 ! Triangular shaped phalanges of the hand ]
[ HP:0010238 ! Triangular epiphyses of the phalanges of the hand ] is_a [ HP:0010587 ! Triangular epiphyses ]
[ HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand ] is_a [ HP:0009875 ! Triangular shaped distal phalanges of the hand ]
[ HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand ] is_a [ HP:0009850 ! Triangular shaped middle phalanges of the hand ]
[ HP:0010281 ! Cleft of the lower lip ] is_a [ HP:0000204 ! Cleft lip ]
[ HP:0010282 ! Thin lower lip ] is_a [ HP:0000213 ! Thin lips ]
[ HP:0010315 ! Aplasia/Hypoplasia of the diaphragm ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0010323 ! Abnormality of the epiphysis of the 2nd toe ] is_a [ HP:0010631 ! Abnormality of the epiphyses of the feet ]
[ HP:0010324 ! Abnormality of the phalanges of the 2nd toe ] is_a [ HP:0010161 ! Abnormality of the phalanges of the toes ]
[ HP:0010327 ! Joint contractures of the 2nd toe ] is_a [ HP:0001860 ! Toe contractures ]
[ HP:0010328 ! Polydactyly affecting the 2nd toe ] is_a [ HP:0010112 ! Central polydactyly (feet) ]
[ HP:0010329 ! Abnormality of the epiphysis of the 3rd toe ] is_a [ HP:0010631 ! Abnormality of the epiphyses of the feet ]
[ HP:0010330 ! Abnormality of the phalanges of the 3rd toe ] is_a [ HP:0010161 ! Abnormality of the phalanges of the toes ]
[ HP:0010333 ! Joint contractures of the 3rd toe ] is_a [ HP:0001860 ! Toe contractures ]
[ HP:0010334 ! Polydactyly affecting the 3rd toe ] is_a [ HP:0010112 ! Central polydactyly (feet) ]
[ HP:0010335 ! Abnormality of the epiphysis of the 4th toe ] is_a [ HP:0010631 ! Abnormality of the epiphyses of the feet ]
[ HP:0010336 ! Abnormality of the phalanges of the 4th toe ] is_a [ HP:0010161 ! Abnormality of the phalanges of the toes ]
[ HP:0010339 ! Joint contractures of the 4th toe ] is_a [ HP:0001860 ! Toe contractures ]
[ HP:0010340 ! Polydactyly affecting the 4th toe ] is_a [ HP:0010112 ! Central polydactyly (feet) ]
[ HP:0010341 ! Abnormality of the epiphysis of the 5th toe ] is_a [ HP:0010631 ! Abnormality of the epiphyses of the feet ]
[ HP:0010342 ! Abnormality of the phalanges of the 5th toe ] is_a [ HP:0010161 ! Abnormality of the phalanges of the toes ]
[ HP:0010345 ! Joint contractures of the 5th toe ] is_a [ HP:0001860 ! Toe contractures ]
[ HP:0010348 ! Broad phalanges of the 2nd toe ] is_a [ HP:0010174 ! Broad phalanges of the toes ]
[ HP:0010350 ! Curved phalanges of the 2nd toe ] is_a [ HP:0010176 ! Curved phalanges of the toes ]
[ HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe ] is_a [ HP:0010177 ! Osteolytic defects of the phalanges of the toes ]
[ HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe ] is_a [ HP:0010179 ! Symphalangism affecting the phalanges of the toes ]
[ HP:0010354 ! Triangular shaped phalanges of the 2nd toe ] is_a [ HP:0010180 ! Triangular shaped phalanges of the toes ]
[ HP:0010360 ! Broad phalanges of the 3rd toe ] is_a [ HP:0010174 ! Broad phalanges of the toes ]
[ HP:0010362 ! Curved phalanges of the 3rd toe ] is_a [ HP:0010176 ! Curved phalanges of the toes ]
[ HP:0010362 ! Curved phalanges of the 3rd toe ] is_a [ HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe ]
[ HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe ] is_a [ HP:0010177 ! Osteolytic defects of the phalanges of the toes ]
[ HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe ] is_a [ HP:0010179 ! Symphalangism affecting the phalanges of the toes ]
[ HP:0010366 ! Triangular shaped phalanges of the 3rd toe ] is_a [ HP:0010180 ! Triangular shaped phalanges of the toes ]
[ HP:0010366 ! Triangular shaped phalanges of the 3rd toe ] is_a [ HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe ]
[ HP:0010367 ! Partial/complete duplication of the phalanges of the 3rd toe ] is_a [ HP:0010181 ! Partial/complete duplication of the phalanges of the toes ]
[ HP:0010372 ! Broad phalanges of the 4th toe ] is_a [ HP:0010174 ! Broad phalanges of the toes ]
[ HP:0010373 ! Bullet-shaped phalanges of the 4th toe ] is_a [ HP:0010175 ! Bullet-shaped phalanges of the toes ]
[ HP:0010374 ! Curved phalanges of the 4th toe ] is_a [ HP:0010176 ! Curved phalanges of the toes ]
[ HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe ] is_a [ HP:0010177 ! Osteolytic defects of the phalanges of the toes ]
[ HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe ] is_a [ HP:0001770 ! Toe syndactyly ]
[ HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe ] is_a [ HP:0010179 ! Symphalangism affecting the phalanges of the toes ]
[ HP:0010378 ! Triangular shaped phalanges of the 4th toe ] is_a [ HP:0010180 ! Triangular shaped phalanges of the toes ]
[ HP:0010379 ! Partial/complete duplication of the phalanges of the 4th toe ] is_a [ HP:0010181 ! Partial/complete duplication of the phalanges of the toes ]
[ HP:0010384 ! Broad phalanges of the 5th toe ] is_a [ HP:0010174 ! Broad phalanges of the toes ]
[ HP:0010385 ! Bullet-shaped phalanges of the 5th toe ] is_a [ HP:0010175 ! Bullet-shaped phalanges of the toes ]
[ HP:0010386 ! Curved phalanges of the 5th toe ] is_a [ HP:0010176 ! Curved phalanges of the toes ]
[ HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe ] is_a [ HP:0010177 ! Osteolytic defects of the phalanges of the toes ]
[ HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe ] is_a [ HP:0001770 ! Toe syndactyly ]
[ HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe ] is_a [ HP:0010179 ! Symphalangism affecting the phalanges of the toes ]
[ HP:0010390 ! Triangular shaped phalanges of the 5th toe ] is_a [ HP:0010180 ! Triangular shaped phalanges of the toes ]
[ HP:0010391 ! Partial/complete duplication of the phalanges of the 5th toe ] is_a [ HP:0010181 ! Partial/complete duplication of the phalanges of the toes ]
[ HP:0010429 ! Complete duplication of the phalanges of the 2nd toe ] is_a [ HP:0010181 ! Partial/complete duplication of the phalanges of the toes ]
[ HP:0010432 ! Aplasia of the distal phalanx of the 2nd toe ] is_a [ HP:0010436 ! Aplasia of the proximal phalanx of the 2nd toe ]
[ HP:0010499 ! Patellar subluxation ] is_a [ HP:0002999 ! Dislocation of patella ]
[ HP:0010538 ! Small sella turcica ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0010618 ! Ovarian fibroma ] is_a HP:0000137 Abnormality of the ovaries
_:abnormal_distal_femoral_metaphysis is_a [ HP:0000944 ! Abnormality of the metaphyses ]
_:abnormal_proximal_femoral_metaphysis is_a [ HP:0000944 ! Abnormality of the metaphyses ]
_:broad_epiphyses_of_the_proximal_phalanges_of_the_hand is_a _:wide_epiphysis
_:broad_metacarpal_bone_epiphysis is_a _:wide_epiphysis
_:delayed_epiphysis_development is_a [ HP:0001263 ! Developmental retardation ]
_:distal_lower_limb_muscle is_a _:distal_limb_muscle
_:flared_rib is_a [ HP:0006487 ! Bowing of the long bones ]
_:irregular_distal_femoral_epiphysis is_a [ HP:0010582 ! Irregular epiphyses ]
_:prominent_coccyx is_a _:protruding_coccyx
_:small_distal_femoral_epiphysis is_a [ HP:0010585 ! Small epiphyses ]
_:thick_distal_phalanx is_a [ HP:0003100 ! Thin long bones ]
_:thin_clavicles is_a [ HP:0003100 ! Thin long bones ]
_:thin_metacarpal_bone is_a [ HP:0003100 ! Thin long bones ]
_:thin_proximal_phalanges is_a [ HP:0003100 ! Thin long bones ]
_:wide_proximal_femoral_epiphysis is_a _:wide_epiphysis
[ HP:0000138 ! Ovarian cysts ] is_a HP:0000137 Abnormality of the ovaries
[ HP:0000241 ! Deceleration of head growth ] is_a [ HP:0001507 ! Growth abnormality ]
[ HP:0000282 ! Facial edema ] is_a [ HP:0001999 ! Facial dysmorphism ]
[ HP:0000342 ! High, sloping forehead ] is_a [ HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton ]
[ HP:0000395 ! Prominent antihelix ] is_a [ HP:0009904 ! Prominent ear helix ]
[ HP:0000524 ! Conjunctival telangiectasia ] is_a _:face_telangiectases
[ HP:0000680 ! Delayed eruption of deciduous teeth ] is_a [ HP:0006481 ! Abnormality of deciduous teeth ]
[ HP:0000701 ! Loss of teeth ] is_a [ HP:0006483 ! Abnormal number of teeth ]
[ HP:0001043 ! Prominent scalp veins ] is_a [ HP:0001965 ! Abnormality of the scalp ]
[ HP:0001169 ! Broad hands ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0001182 ! Tapered fingers ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0001217 ! Clubbing ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0001220 ! Interphalangeal joint contractures ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0001233 ! 2-3 finger syndactyly ] is_a [ HP:0004100 ! Abnormality of the 2nd finger ]
[ HP:0001236 ! Mild syndactyly ] is_a [ HP:0003098 ! Minor hand anomalies ]
[ HP:0001500 ! Broad fingers ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0001688 ! Sinus bradycardia ] is_a [ HP:0000245 ! Abnormality of the sinuses ]
[ HP:0001766 ! Short feet ] is_a [ HP:0010611 ! Abnormal feet morphology ]
[ HP:0001769 ! Broad feet ] is_a [ HP:0010611 ! Abnormal feet morphology ]
[ HP:0001804 ! Hypoplastic fingernails ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0001855 ! Short phalanges (feet) ] is_a [ HP:0010161 ! Abnormality of the phalanges of the toes ]
[ HP:0002035 ! Rectal prolapse ] is_a [ HP:0001538 ! Protuberant abdomen ]
[ HP:0002293 ! Alopecia of scalp ] is_a [ HP:0001965 ! Abnormality of the scalp ]
[ HP:0002346 ! Head tremor ] is_a [ HP:0000234 ! Head abnormality ] entailed: [ HP:0002346 ! Head tremor ] has_part [ HP:0000234 ! Head abnormality ]
[ HP:0002378 ! Hand tremor ] is_a [ HP:0001155 ! Abnormality of the hand ]
[ HP:0002600 ! Hyporeflexia of lower limbs ] is_a [ HP:0002814 ! Abnormality of the lower limbs ]
[ HP:0002682 ! Broad skull ] is_a [ HP:0000240 ! Abnormality of skull size ]
[ HP:0002943 ! Thoracic scoliosis ] is_a [ HP:0000765 ! Abnormality of the thorax ]
[ HP:0002947 ! Cervical kyphosis ] is_a [ HP:0005905 ! Abnormal cervical curvature ]
[ HP:0003047 ! Metaphyseal flaring of long bones ] is_a [ HP:0006487 ! Bowing of the long bones ]
[ HP:0003065 ! Patellar hypoplasia ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0003427 ! Thenar muscle weakness ] is_a [ HP:0001324 ! Muscle weakness ]
[ HP:0003733 ! Thigh hypertrophy ] is_a [ HP:0003748 ! Amyotrophy of the thigh musculature ]
[ HP:0003748 ! Amyotrophy of the thigh musculature ] is_a [ HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh ]
[ HP:0003794 ! Open sutures ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0003795 ! Short middle phalanges (feet) ] is_a [ HP:0010183 ! Abnormality of the middle phalanges of the toes ]
[ HP:0003849 ! Flared metaphyses of the upper limbs ] is_a [ HP:0003850 ! Irregular metaphyses of the upper limbs ]
[ HP:0003849 ! Flared metaphyses of the upper limbs ] is_a [ HP:0003856 ! Wide/broad metaphyses of the upper limbs ]
[ HP:0003911 ! Flared humeral metaphyses ] is_a [ HP:0003925 ! Wide/broad humeral metaphysis ]
[ HP:0003987 ! Fractured ulna ] is_a [ HP:0003961 ! Fractured forearm bones ]
[ HP:0004014 ! Wide/broad radial epiphyseal plates ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0004018 ! Flared radial metaphyses ] is_a [ HP:0004019 ! Irregular radial metaphysis ]
[ HP:0004018 ! Flared radial metaphyses ] is_a [ HP:0004026 ! Wide/broad radial metaphysis ]
[ HP:0004047 ! Wide/broad ulnar metaphysis ] is_a [ HP:0003971 ! Wide/broad forearm bones ]
[ HP:0004095 ! Curved fingers ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004099 ! Finger overgrowth ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004153 ! Overgrowth of middle finger ] is_a [ HP:0004150 ! Abnormality of the 3rd finger ]
[ HP:0004196 ! Short phalanges of the ring finger ] is_a [ HP:0009172 ! Abnormality of the phalanges of the 4th finger ]
[ HP:0004230 ! Subluxation of the proximal interphalangeal joint of the little finger ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0004242 ! Wide/broad carpal bones ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004261 ! Wide/broad hamate bone ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004277 ! Fractured hand bones ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0004443 ! Lambdoidal craniosynostosis ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0004484 ! Craniofacial asymmetry ] is_a [ HP:0001999 ! Facial dysmorphism ]
[ HP:0004497 ! Hypoplastic nostrils ] is_a [ HP:0005288 ! Abnormality of the nares ]
[ HP:0004558 ! cervical platyspondyly ] is_a [ HP:0003319 ! Abnormality of the cervical spine ]
[ HP:0004563 ! increased spinal bone density ] is_a [ HP:0000925 ! Abnormality of the vertebral column ]
[ HP:0004575 ! fusion of midcervical facet joints ] is_a [ HP:0005262 ! Abnormality of the synovia ]
[ HP:0004629 ! small cervical vertebral bodies ] is_a [ HP:0003319 ! Abnormality of the cervical spine ]
[ HP:0004680 ! short first metatarsal ] is_a [ HP:0010054 ! Abnormality of the 1st metatarsal ]
[ HP:0004689 ! short fourth metatarsals ] is_a [ HP:0010012 ! Abnormality of the 4th metacarpal ]
[ HP:0004706 ! mild shortening of metatarsals ] is_a [ HP:0003098 ! Minor hand anomalies ]
[ HP:0004706 ! mild shortening of metatarsals ] is_a [ HP:0005077 ! slightly short long bones ]
[ HP:0004782 ! Hypotrichosis of the scalp ] is_a [ HP:0001965 ! Abnormality of the scalp ]
[ HP:0004953 ! Abdominal aortic aneurysm ] is_a [ HP:0001438 ! Abnormality of the abdomen ]
[ HP:0004986 ! Rudimentary to absent fibulae ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0005031 ! Achilles tendon contractures, mild ] is_a [ HP:0005053 ! mild joint contractures ]
[ HP:0005033 ! ulnar hypoplasia, distal ] is_a [ HP:0010600 ! Abnormality of the distal ulnar epiphysis ]
[ HP:0005450 ! Calvarial osteosclerosis ] is_a [ HP:0002683 ! Abnormality of the calvarium ]
[ HP:0005609 ! Gallbladder dysfunction ] is_a [ HP:0005264 ! Abnormality of the gallbladder ]
[ HP:0005619 ! Thoracolumbar kyphosis ] is_a [ HP:0003468 ! Abnormalities of the vertebrae ]
[ HP:0005625 ! Osteoporosis of vertebrae ] is_a [ HP:0003468 ! Abnormalities of the vertebrae ]
[ HP:0005628 ! Short fourth toe proximal phalanx ] is_a [ HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe ]
[ HP:0005641 ! Flattened cervical vertebral bodies ] is_a [ HP:0003319 ! Abnormality of the cervical spine ]
[ HP:0005649 ! Very short fifth finger middle phalanx ] is_a [ HP:0005052 ! very short long bones ]
[ HP:0005706 ! Short middle phalanx of fingers 2 and 5 ] is_a [ HP:0009597 ! Hypoplastic/small proximal phalanx of the 2nd finger ] entailed: [ HP:0005706 ! Short middle phalanx of fingers 2 and 5 ] has_part [ HP:0009597 ! Hypoplastic/small proximal phalanx of the 2nd finger ]
[ HP:0005715 ! Flattened knee epiphyses ] is_a [ HP:0006500 ! Abnormality involving the epiphyses of the lower limbs ]
[ HP:0005745 ! Congenital foot contractures ] is_a [ HP:0005750 ! Contractures of lower limbs ]
[ HP:0005797 ! Syndactyly of second to fourth fingers ] is_a [ HP:0004100 ! Abnormality of the 2nd finger ]
[ HP:0005811 ! Ulnar deviation of index fingers ] is_a [ HP:0004100 ! Abnormality of the 2nd finger ]
[ HP:0005825 ! Mixed sclerosis of humeral metaphyses ] is_a [ HP:0006506 ! Abnormality involving the metaphyses of the limbs ]
[ HP:0005879 ! Congenital finger flexion contractures ] is_a [ HP:0003121 ! Limb contractures ]
[ HP:0005879 ! Congenital finger flexion contractures ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0006026 ! Rounded epiphyses ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0006042 ! Y-shaped metacarpals ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0006053 ! Second finger clinodactyly ] is_a [ HP:0004100 ! Abnormality of the 2nd finger ]
[ HP:0006059 ! Cone-shaped metacarpal epiphyses ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0006073 ! Short, broad proximal phalanx of thumb ] is_a [ HP:0009650 ! Hypoplastic/small distal phalanx of the thumb ]
[ HP:0006082 ! Absent distal and middle phalanges ] is_a [ HP:0009881 ! Aplasia of the distal phalanges of the hand ]
[ HP:0006137 ! Finger and wrist contractures ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0006173 ! Contractures of the hands, mild ] is_a [ HP:0005053 ! mild joint contractures ]
[ HP:0006237 ! Prominent interphalangeal joints ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0006341 ! Persistence of deciduous teeth ] is_a [ HP:0006481 ! Abnormality of deciduous teeth ]
[ HP:0006356 ! Single maxillary central incisor ] is_a [ HP:0006483 ! Abnormal number of teeth ]
[ HP:0006412 ! Flat, irregular femoral epiphyses ] is_a [ HP:0004982 ! flat, irregular epiphyses ]
[ HP:0006442 ! Hypoplasia of proximal fibula ] is_a [ HP:0010594 ! Abnormality of the proximal fibular epiphysis ]
[ HP:0006443 ! Patellar aplasia ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0007129 ! Cerebellar medulloblastoma ] is_a [ HP:0001317 ! Abnormality of the cerebellum ]
[ HP:0007269 ! Spinal muscular atrophy ] is_a [ HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column ]
[ HP:0007351 ! Upper limb postural tremor ] is_a [ HP:0002817 ! Abnormality of the upper limbs ]
[ HP:0007385 ! Aplasia cutis congenita of scalp ] is_a [ HP:0001965 ! Abnormality of the scalp ]
[ HP:0007413 ! Forehead nevus flammeus ] is_a [ HP:0000290 ! Abnormality of the forehead ]
[ HP:0007754 ! Macular dystrophy ] is_a [ HP:0000556 ! Retinal dystrophy ]
[ HP:0008099 ! Hypoplastic or dysplastic toes ] is_a [ HP:0002652 ! Skeletal dysplasia ]
[ HP:0008124 ! Talipes calcaneovarus ] is_a [ HP:0008364 ! Abnormality of the calcaneus ]
[ HP:0008127 ! Bipartite calcaneus ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0008365 ! Abnormality of the talus bone ] is_a [ HP:0003549 ! Abnormality of connective tissue ]
[ HP:0008467 ! Thoracic hemivertebrae ] is_a [ HP:0000765 ! Abnormality of the thorax ]
[ HP:0008724 ! Hypoplastic ovary ] is_a HP:0000137 Abnormality of the ovaries
[ HP:0008732 ! Renal hypophosphatemia ] is_a [ HP:0000077 ! Abnormality of the kidneys ]
[ HP:0008774 ! Aplasia/Hypoplasia of the inner ear ] is_a [ HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system ]
[ HP:0008843 ! Hip osteoarthritis ] is_a [ HP:0003272 ! Abnormality of the hip ]
[ HP:0008944 ! Distal lower limb muscle weakness and atrophy ] is_a [ HP:0006940 ! Distal muscle weakness and atrophy ]
[ HP:0008944 ! Distal lower limb muscle weakness and atrophy ] is_a [ HP:0007340 ! Lower limb muscle weakness ] entailed: [ HP:0008944 ! Distal lower limb muscle weakness and atrophy ] has_part [ HP:0007340 ! Lower limb muscle weakness ]
[ HP:0008961 ! Proximal muscle weakness and wasting ] is_a [ HP:0003701 ! Proximal muscle weakness ] entailed: [ HP:0008961 ! Proximal muscle weakness and wasting ] has_part [ HP:0003701 ! Proximal muscle weakness ]
[ HP:0009007 ! Hypoplastic biceps ] is_a [ HP:0009004 ! Muscle hypoplasia ]
[ HP:0009009 ! Shoulder weakness and atrophy ] is_a [ HP:0009012 ! Muscle weakness and atrophy ]
[ HP:0009011 ! Hypoplasia of serratus anterior muscle ] is_a [ HP:0009004 ! Muscle hypoplasia ]
[ HP:0009044 ! Hypoplasia of deltoid muscle ] is_a [ HP:0009004 ! Muscle hypoplasia ]
[ HP:0009099 ! Median cleft palate ] is_a [ HP:0001367 ! Abnormality of the joints ]
[ HP:0009101 ! Submucous cleft lip ] is_a [ HP:0000159 ! Lip abnormality ]
[ HP:0009117 ! Aplasia/Hypoplasia of the maxilla ] is_a [ HP:0002692 ! Hypoplastic facial bones ] entailed: [ HP:0009117 ! Aplasia/Hypoplasia of the maxilla ] has_part [ HP:0002692 ! Hypoplastic facial bones ]
[ HP:0009118 ! Aplasia/Hypoplasia of the mandible ] is_a [ HP:0002692 ! Hypoplastic facial bones ] entailed: [ HP:0009118 ! Aplasia/Hypoplasia of the mandible ] has_part [ HP:0002692 ! Hypoplastic facial bones ]
[ HP:0009130 ! Amyotrophy involving the musculature of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009158 ! Enlarged epiphysis of the proximal phalanx of the 5th finger ] is_a [ HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand ]
[ HP:0009171 ! Triangular epiphyses of the metacarpals ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0009171 ! Triangular epiphyses of the metacarpals ] is_a [ HP:0010238 ! Triangular epiphyses of the phalanges of the hand ]
[ HP:0009189 ! Fragmentation of the metacarpal epiphyses ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0009204 ! Bracket epiphysis of the middle phalanx of the 5th finger ] is_a [ HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand ]
[ HP:0009246 ! Aplasia of the distal phalanx of the 5th finger ] is_a [ HP:0009162 ! Aplasia of the middle phalanx of the 5th finger ] entailed: [ HP:0009246 ! Aplasia of the distal phalanx of the 5th finger ] has_part [ HP:0009162 ! Aplasia of the middle phalanx of the 5th finger ]
[ HP:0009295 ! Hypoplastic/small middle phalanx of the 4th finger ] is_a [ HP:0006132 ! Very short distal phalanges ]
[ HP:0009374 ! Broad phalanges of the 5th finger ] is_a [ HP:0003904 ! Wide/broad epiphyses of the upper limbs ]
[ HP:0009404 ! Broad phalanges of the 4th finger ] is_a [ HP:0003904 ! Wide/broad epiphyses of the upper limbs ]
[ HP:0009439 ! Hypoplastic/small middle phalanx of the 3rd finger ] is_a [ HP:0006132 ! Very short distal phalanges ]
[ HP:0009473 ! Joint contractures involving the joints of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009565 ! Aplasia of the distal phalanx of the 2nd finger ] is_a [ HP:0009596 ! Aplasia of the proximal phalanx of the 2nd finger ] entailed: [ HP:0009565 ! Aplasia of the distal phalanx of the 2nd finger ] has_part [ HP:0009596 ! Aplasia of the proximal phalanx of the 2nd finger ]
[ HP:0009566 ! Hypoplastic/small distal phalanx of the 2nd finger ] is_a [ HP:0009597 ! Hypoplastic/small proximal phalanx of the 2nd finger ] entailed: [ HP:0009566 ! Hypoplastic/small distal phalanx of the 2nd finger ] has_part [ HP:0009597 ! Hypoplastic/small proximal phalanx of the 2nd finger ]
[ HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger ] is_a [ HP:0009596 ! Aplasia of the proximal phalanx of the 2nd finger ] entailed: [ HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger ] has_part [ HP:0009596 ! Aplasia of the proximal phalanx of the 2nd finger ]
[ HP:0009577 ! Hypoplastic/small middle phalanx of the 2nd finger ] is_a [ HP:0006132 ! Very short distal phalanges ]
[ HP:0009577 ! Hypoplastic/small middle phalanx of the 2nd finger ] is_a [ HP:0009597 ! Hypoplastic/small proximal phalanx of the 2nd finger ] entailed: [ HP:0009577 ! Hypoplastic/small middle phalanx of the 2nd finger ] has_part [ HP:0009597 ! Hypoplastic/small proximal phalanx of the 2nd finger ]
[ HP:0009611 ! bifid distal phalanx of the thumb ] is_a [ HP:0009606 ! duplicated distal phalanx of the thumb ]
[ HP:0009614 ! bifid proximal phalanx of the thumb ] is_a [ HP:0009608 ! duplicated proximal phalanx of the thumb ]
[ HP:0009616 ! bifid 1st metacarpal ] is_a [ HP:0009615 ! duplicated 1st metacarpal ]
[ HP:0009637 ! Aplasia of the proximal phalanx of the thumb ] is_a [ HP:0009664 ! Absent epiphysis of the proximal phalanx of the thumb ]
[ HP:0009649 ! Aplasia of the distal phalanx of the thumb ] is_a [ HP:0009675 ! Absent epiphysis of the distal phalanx of the thumb ]
[ HP:0009664 ! Absent epiphysis of the proximal phalanx of the thumb ] is_a [ HP:0009672 ! Small epiphysis of the proximal phalanx of the thumb ]
[ HP:0009675 ! Absent epiphysis of the distal phalanx of the thumb ] is_a [ HP:0009683 ! Small epiphysis of the distal phalanx of the thumb ]
[ HP:0009729 ! Cardiac rhabdomyoma ] is_a [ HP:0001627 ! Cardiac abnormality ]
[ HP:0009735 ! Spinal neurofibromas ] is_a [ HP:0000925 ! Abnormality of the vertebral column ]
[ HP:0009768 ! Broad phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009769 ! Bullet-shaped phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009770 ! Curved phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009774 ! Triangular shaped phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009803 ! Hypoplastic/small phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009884 ! Tapered distal phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009937 ! Facial hirsutism ] is_a [ HP:0000271 ! Abnormality of the face ]
[ HP:0009944 ! Partial duplication of the phalanges of the thumb ] is_a [ HP:0005922 ! Abnormal hand morphology ] entailed: [ HP:0009944 ! Partial duplication of the phalanges of the thumb ] has_part [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0009981 ! Partial duplication of the distal phalanx of the 4th finger ] is_a [ HP:0009978 ! Complete duplication of the distal phalanx of the 4th finger ]
[ HP:0010003 ! Partial duplication of the proximal phalanges of the hand ] is_a [ HP:0009834 ! Abnormality of the proximal phalanges of the hand ]
[ HP:0010015 ! Absent epiphysis of the 1st metacarpal ] is_a [ HP:0009194 ! Small epiphyses of the metacarpals ]
[ HP:0010015 ! Absent epiphysis of the 1st metacarpal ] is_a [ HP:0010023 ! Small epiphysis of the 1st metacarpal ]
[ HP:0010028 ! Bullet-shaped 1st metacarpal ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0010029 ! Curved 1st metacarpal ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0010033 ! Triangular shaped 1st metacarpal ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0010035 ! Aplasia of the 1st metacarpal ] is_a [ HP:0006500 ! Abnormality involving the epiphyses of the lower limbs ]
[ HP:0010035 ! Aplasia of the 1st metacarpal ] is_a [ HP:0009194 ! Small epiphyses of the metacarpals ]
[ HP:0010035 ! Aplasia of the 1st metacarpal ] is_a [ HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand ]
[ HP:0010035 ! Aplasia of the 1st metacarpal ] is_a [ HP:0010276 ! Small epiphyses of the proximal phalanges of the hand ]
[ HP:0010062 ! Osteolytic defects of the phalanges of the hallux ] is_a [ HP:0009134 ! Osteolysis involving bones of the feet ]
[ HP:0010064 ! Symphalangism affecting the phalanges of the hallux ] is_a [ HP:0004687 ! hallucal symphalangism ]
[ HP:0010086 ! Broad proximal phalanx of the hallux ] is_a [ HP:0010186 ! Broad distal phalanges of the toes ]
[ HP:0010088 ! Curved proximal phalanx of the hallux ] is_a [ HP:0010188 ! Curved distal phalanges of the toes ]
[ HP:0010089 ! Osteolytic defects of the proximal phalanx of the hallux ] is_a [ HP:0010189 ! Osteolytic defects of the distal phalanges of the toes ]
[ HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux ] is_a [ HP:0010191 ! Symphalangism affecting the distal phalanges of the toes ]
[ HP:0010092 ! Triangular shaped proximal phalanx of the hallux ] is_a [ HP:0010192 ! Triangular shaped distal phalanges of the toes ]
[ HP:0010095 ! Partial duplication of the proximal phalanx of the hallux ] is_a [ HP:0001853 ! Bifid terminal phalanges (feet) ]
[ HP:0010103 ! Hypoplastic/small distal phalanx of the hallux ] is_a [ HP:0003795 ! Short middle phalanges (feet) ]
[ HP:0010113 ! Absent epiphyses of the hallux ] is_a [ HP:0010121 ! Small epiphyses of the hallux ]
[ HP:0010127 ! Absent epiphysis of the proximal phalanx of the hallux ] is_a [ HP:0010135 ! Small epiphysis of the proximal phalanx of the hallux ]
[ HP:0010138 ! Absent epiphysis of the distal phalanx of the hallux ] is_a [ HP:0010146 ! Small epiphysis of the distal phalanx of the hallux ]
[ HP:0010149 ! Absent epiphysis of the 1st metatarsal ] is_a [ HP:0010157 ! Small epiphysis of the 1st metatarsal ]
[ HP:0010151 ! Cone-shaped epiphysis of the 1st metatarsal ] is_a [ HP:0010157 ! Small epiphysis of the 1st metatarsal ]
[ HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0010339 ! Joint contractures of the 4th toe ] is_a _:short_fourth_toe
[ HP:0010345 ! Joint contractures of the 5th toe ] is_a _:short_fifth_toe
[ HP:0010423 ! Partial duplication of the proximal phalanx of the 2nd toe ] is_a [ HP:0010429 ! Complete duplication of the phalanges of the 2nd toe ]
[ HP:0010425 ! Partial duplication of the distal phalanx of the 2nd toe ] is_a [ HP:0010429 ! Complete duplication of the phalanges of the 2nd toe ]
[ HP:0010427 ! Partial duplication of the middle phalanx of the 2nd toe ] is_a [ HP:0010429 ! Complete duplication of the phalanges of the 2nd toe ]
[ HP:0010463 ! Aplasia of the ovaries ] is_a HP:0000137 Abnormality of the ovaries
[ HP:0010487 ! Hypoplasia of the hypothenar eminence ] is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0010493 ! Increased length of metacarpals ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0010574 ! Abnormality of the epiphysis of the femoral head ] is_a [ HP:0006500 ! Abnormality involving the epiphyses of the lower limbs ]
[ HP:0010617 ! Cardiac fibroma ] is_a [ HP:0001627 ! Cardiac abnormality ]
_:face_telangiectases is_a [ HP:0000271 ! Abnormality of the face ]
_:flared_rib is_a [ HP:0000772 ! Abnormality of the ribs ]
_:irregular_distal_femoral_epiphysis is_a [ HP:0010590 ! Abnormality of the distal femoral epiphysis ]
_:sclerotic_metaphysis is_a [ HP:0000944 ! Abnormality of the metaphyses ]
_:small_distal_femoral_epiphysis is_a [ HP:0010590 ! Abnormality of the distal femoral epiphysis ]
_:thick_distal_phalanx is_a [ HP:0009832 ! Abnormality of the distal phalanges of the hand ]
_:thin_clavicles is_a [ HP:0000889 ! Abnormality of the clavicles ]
_:thin_metacarpal_bone is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
_:thin_proximal_phalanges is_a [ HP:0009834 ! Abnormality of the proximal phalanges of the hand ]
_:unossified_cervical_vertebra is_a [ HP:0003319 ! Abnormality of the cervical spine ]
[ HP:0000342 ! High, sloping forehead ] is_a [ HP:0002692 ! Hypoplastic facial bones ]
[ HP:0004018 ! Flared radial metaphyses ] is_a [ HP:0002986 ! Radial bowing ]
[ HP:0004018 ! Flared radial metaphyses ] is_a [ HP:0003047 ! Metaphyseal flaring of long bones ]
[ HP:0004018 ! Flared radial metaphyses ] is_a [ HP:0004348 ! Abnormality of bone mineral density. ]
[ HP:0004033 ! Curved olecranon ] is_a [ HP:0003844 ! Small epiphyses of the upper limbs ]
[ HP:0004034 ! Irregular olecranon ] is_a [ HP:0003844 ! Small epiphyses of the upper limbs ]
[ HP:0004037 ! Abnormality of the ulnar epiphyses ] is_a [ HP:0003844 ! Small epiphyses of the upper limbs ]
[ HP:0004192 ! Bracket epiphyses of the 4th finger ] is_a [ HP:0009394 ! Bracket epiphyses of the 4th finger ]
[ HP:0004680 ! short first metatarsal ] is_a [ HP:0001855 ! Short phalanges (feet) ]
[ HP:0005628 ! Short fourth toe proximal phalanx ] is_a _:short_fourth_toe
[ HP:0005706 ! Short middle phalanx of fingers 2 and 5 ] is_a [ HP:0006132 ! Very short distal phalanges ] entailed: [ HP:0005706 ! Short middle phalanx of fingers 2 and 5 ] has_part [ HP:0006132 ! Very short distal phalanges ]
[ HP:0005774 ! Absent middle phalanges of fingers 2 and 5 ] is_a [ HP:0009577 ! Hypoplastic/small middle phalanx of the 2nd finger ]
[ HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger ] is_a [ HP:0009226 ! Hypoplastic/small proximal phalanx of the 5th finger ] entailed: [ HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger ] has_part [ HP:0009226 ! Hypoplastic/small proximal phalanx of the 5th finger ]
[ HP:0009600 ! Joint contractures of the thumb ] is_a [ HP:0009660 ! Hypoplastic/small phalanges of the thumb ] entailed: [ HP:0009600 ! Joint contractures of the thumb ] has_part [ HP:0009660 ! Hypoplastic/small phalanges of the thumb ]
[ HP:0009616 ! bifid 1st metacarpal ] is_a [ HP:0005916 ! Abnormal metacarpal morphology ]
[ HP:0010063 ! Patchy sclerosis of the phalanges of the hallux ] is_a [ HP:0005610 ! Hypoplastic big toes ]
[ HP:0010089 ! Osteolytic defects of the proximal phalanx of the hallux ] is_a [ HP:0009816 ! Hypoplasia involving bones of the lower limbs ]
_:thick_distal_phalanx is_a [ HP:0005922 ! Abnormal hand morphology ]
_:thin_proximal_phalanges is_a [ HP:0005922 ! Abnormal hand morphology ]
[ HP:0005774 ! Absent middle phalanges of fingers 2 and 5 ] is_a [ HP:0009825 ! Aplasia involving bones of the extremities ]
[ HP:0009162 ! Aplasia of the middle phalanx of the 5th finger ] is_a [ HP:0009246 ! Aplasia of the distal phalanx of the 5th finger ] entailed: [ HP:0009162 ! Aplasia of the middle phalanx of the 5th finger ] has_part [ HP:0009246 ! Aplasia of the distal phalanx of the 5th finger ]
[ HP:0009225 ! Aplasia of the proximal phalanx of the 5th finger ] is_a [ HP:0003696 ! Absent epiphysis of the distal phalanx of the 5th finger ]
[ HP:0009225 ! Aplasia of the proximal phalanx of the 5th finger ] is_a [ HP:0009160 ! Absent epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009225 ! Aplasia of the proximal phalanx of the 5th finger ] is_a [ HP:0009203 ! Absent epiphysis of the middle phalanx of the 5th finger ]
[ HP:0009225 ! Aplasia of the proximal phalanx of the 5th finger ] is_a [ HP:0009418 ! Small epiphyses of the 3rd finger ]
[ HP:0000104 ! Renal agenesis ] equivalent_class [ HP:0004744 ! renal agenesis/hypoplasia ]
[ HP:0000340 ! Sloping forehead ] equivalent_class [ HP:0004480 ! Receding or small forehead ]
[ HP:0000350 ! Small forehead ] equivalent_class [ HP:0004480 ! Receding or small forehead ]
[ HP:0000908 ! Hypoplastic ribs ] equivalent_class [ HP:0006636 ! Hypoplastic or missing ribs ]
[ HP:0000911 ! Flat glenoid fossa ] equivalent_class [ HP:0006591 ! Flat or absent glenoid fossae ]
[ HP:0002997 ! Abnormality of the ulna ] equivalent_class [ HP:0006388 ! Hypoplastic/absent/deformed ulna ]
[ HP:0003022 ! Hypoplasia of the ulna ] equivalent_class [ HP:0005097 ! ulnar hypoplasia/aplasia ]
[ HP:0003022 ! Hypoplasia of the ulna ] equivalent_class [ HP:0006410 ! Absent-hypoplastic ulnae ]
[ HP:0003173 ! Hypoplastic pubic bones ] equivalent_class [ HP:0008841 ! Hypoplastic/aplastic pubic bones ]
[ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ] equivalent_class [ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ]
[ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ] equivalent_class [ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ]
[ HP:0004480 ! Receding or small forehead ] equivalent_class [ HP:0000340 ! Sloping forehead ]
[ HP:0004480 ! Receding or small forehead ] equivalent_class [ HP:0000350 ! Small forehead ]
[ HP:0004744 ! renal agenesis/hypoplasia ] equivalent_class [ HP:0000104 ! Renal agenesis ]
[ HP:0005097 ! ulnar hypoplasia/aplasia ] equivalent_class [ HP:0003022 ! Hypoplasia of the ulna ]
[ HP:0005349 ! Hypoplasia of the epiglottis ] equivalent_class [ HP:0008746 ! Bifid or hypoplastic epiglottis ]
[ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ] equivalent_class [ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ]
[ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ] equivalent_class [ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ]
[ HP:0006388 ! Hypoplastic/absent/deformed ulna ] equivalent_class [ HP:0002997 ! Abnormality of the ulna ]
[ HP:0006410 ! Absent-hypoplastic ulnae ] equivalent_class [ HP:0003022 ! Hypoplasia of the ulna ]
[ HP:0006591 ! Flat or absent glenoid fossae ] equivalent_class [ HP:0000911 ! Flat glenoid fossa ]
[ HP:0006636 ! Hypoplastic or missing ribs ] equivalent_class [ HP:0000908 ! Hypoplastic ribs ]
[ HP:0008746 ! Bifid or hypoplastic epiglottis ] equivalent_class [ HP:0005349 ! Hypoplasia of the epiglottis ]
[ HP:0008841 ! Hypoplastic/aplastic pubic bones ] equivalent_class [ HP:0003173 ! Hypoplastic pubic bones ]
[ HP:0000003 ! Multicystic kidney ] equivalent_class [ HP:0000113 ! Polycystic kidney ]
[ HP:0000013 ! Hypoplastic uterus ] equivalent_class [ HP:0001154 ! Rudimentary uterus ]
[ HP:0000038 ! Small penis ] equivalent_class [ HP:0000054 ! Micropenis ]
[ HP:0000054 ! Micropenis ] equivalent_class [ HP:0000038 ! Small penis ]
[ HP:0000061 ! Ambiguous genitalia, female ] equivalent_class [ HP:0008690 ! Ambiguous genitalia due to virilization ]
[ HP:0000088 ! Cystic kidney ] equivalent_class [ HP:0000107 ! Renal cysts ]
[ HP:0000107 ! Renal cysts ] equivalent_class [ HP:0000088 ! Cystic kidney ]
[ HP:0000113 ! Polycystic kidney ] equivalent_class [ HP:0000003 ! Multicystic kidney ]
[ HP:0000226 ! Small tongue ] equivalent_class [ HP:0010295 ! Aplasia/Hypoplasia of the tongue ]
[ HP:0000256 ! Macrocephaly ] equivalent_class [ HP:0004482 ! Relative macrocephaly ]
[ HP:0000272 ! Malar hypoplasia ] equivalent_class _:zygomatic_bone_hypoplasia
[ HP:0000315 ! Abnormality of the orbital region ] equivalent_class [ HP:0000478 ! Abnormality of the eyes ]
[ HP:0000316 ! Hypertelorism ] equivalent_class [ HP:0002001 ! Wide-set eyes ]
[ HP:0000340 ! Sloping forehead ] equivalent_class [ HP:0000350 ! Small forehead ]
[ HP:0000350 ! Small forehead ] equivalent_class [ HP:0000340 ! Sloping forehead ]
[ HP:0000353 ! Facial weakness, mild ] equivalent_class [ HP:0004670 ! Facial muscle weakness, mild-to-moderate ]
[ HP:0000376 ! Mondini malformation ] equivalent_class [ HP:0008586 ! Hypoplastic cochlea ]
[ HP:0000409 ! Small ears ] equivalent_class [ HP:0008772 ! Aplasia/Hypoplasia of the outer ear ]
[ HP:0000425 ! Flattened nasal bridge ] equivalent_class [ HP:0000431 ! Broad nasal bridge ]
[ HP:0000431 ! Broad nasal bridge ] equivalent_class [ HP:0000425 ! Flattened nasal bridge ]
[ HP:0000478 ! Abnormality of the eyes ] equivalent_class [ HP:0000315 ! Abnormality of the orbital region ]
[ HP:0000768 ! Pectus carinatum ] equivalent_class [ HP:0006639 ! Pectus carinatum, severe ]
[ HP:0000784 ! Underdeveloped breasts ] equivalent_class [ HP:0003187 ! Breast hypoplasia ]
[ HP:0000792 ! Kidney malformation ] equivalent_class [ HP:0008712 ! Renal malformation ]
[ HP:0000826 ! Precocious puberty ] equivalent_class [ HP:0001153 ! Septate vagina ]
[ HP:0000881 ! Absent ribs ] equivalent_class [ HP:0000921 ! Missing ribs ]
[ HP:0000894 ! Short clavicles ] equivalent_class _:straight_clavicles
[ HP:0000921 ! Missing ribs ] equivalent_class [ HP:0000881 ! Absent ribs ]
[ HP:0000929 ! Abnormality of the skull ] equivalent_class [ HP:0001362 ! Skull defect ]
[ HP:0000929 ! Abnormality of the skull ] equivalent_class [ HP:0002648 ! Abnormality of skull shape ]
[ HP:0000948 ! Metaphyseal dysplasia ] equivalent_class [ HP:0005636 ! Generalized metaphyseal skeletal dysplasia ]
[ HP:0000950 ! Broad short ribs ] equivalent_class [ HP:0006667 ! Broad, slightly short ribs ]
[ HP:0000980 ! Pallor ] equivalent_class [ HP:0007419 ! Pale pigmentation ]
[ HP:0001143 ! Small eyes ] equivalent_class [ HP:0008056 ! Aplasia/Hypoplasia affecting the eye ]
[ HP:0001153 ! Septate vagina ] equivalent_class [ HP:0000826 ! Precocious puberty ]
[ HP:0001154 ! Rudimentary uterus ] equivalent_class [ HP:0000013 ! Hypoplastic uterus ]
[ HP:0001202 ! Hypoplastic distal phalanges ] equivalent_class [ HP:0009882 ! Hypoplasia of the distal phalanges of the hand ]
[ HP:0001231 ! Abnormalities of the fingernails ] equivalent_class [ HP:0010623 ! Abnormality of the fingernails ]
[ HP:0001362 ! Skull defect ] equivalent_class [ HP:0000929 ! Abnormality of the skull ]
[ HP:0001362 ! Skull defect ] equivalent_class [ HP:0002648 ! Abnormality of skull shape ]
[ HP:0001385 ! Hip dysplasia ] equivalent_class [ HP:0008787 ! Congenital hip dysplasia ]
[ HP:0001460 ! Aplasia/Hypoplasia involving the musculature ] equivalent_class [ HP:0009034 ! Poorly developed skeletal musculature ]
[ HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs ] equivalent_class [ HP:0009016 ! Upper limb muscle hypoplasia ]
[ HP:0001473 ! Osteolysis involving metatarsal bones ] equivalent_class [ HP:0001842 ! Acroosteolysis (feet) ]
[ HP:0001509 ! Short stature ] equivalent_class [ HP:0004322 ! Decreased body height ]
[ HP:0001510 ! Growth retardation ] equivalent_class [ HP:0001514 ! Postnatal growth retardation ]
[ HP:0001514 ! Postnatal growth retardation ] equivalent_class [ HP:0001510 ! Growth retardation ]
[ HP:0001650 ! Aortic stenosis ] equivalent_class [ HP:0001680 ! Coarctation of aorta ]
[ HP:0001680 ! Coarctation of aorta ] equivalent_class [ HP:0001650 ! Aortic stenosis ]
[ HP:0001748 ! Polysplenia ] equivalent_class [ HP:0009799 ! Supernumerary spleens ]
[ HP:0001764 ! Small feet ] equivalent_class [ HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet ]
[ HP:0001842 ! Acroosteolysis (feet) ] equivalent_class [ HP:0001473 ! Osteolysis involving metatarsal bones ]
[ HP:0001961 ! Hypoplastic heart ] equivalent_class [ HP:0004383 ! Hypoplastic left heart ]
[ HP:0002001 ! Wide-set eyes ] equivalent_class [ HP:0000316 ! Hypertelorism ]
[ HP:0002043 ! Esophageal stricture ] equivalent_class [ HP:0010450 ! Esophageal stenosis ]
[ HP:0002283 ! Diffuse brain atrophy ] equivalent_class [ HP:0002506 ! Diffuse cerebral atrophy ]
[ HP:0002424 ! Frontal lobe hypoplasia ] equivalent_class [ HP:0007333 ! Hypoplastic frontal lobes ]
[ HP:0002506 ! Diffuse cerebral atrophy ] equivalent_class [ HP:0002283 ! Diffuse brain atrophy ]
[ HP:0002534 ! Limb weakness ] equivalent_class [ HP:0003690 ! Limb muscle weakness ]
[ HP:0002648 ! Abnormality of skull shape ] equivalent_class [ HP:0000929 ! Abnormality of the skull ]
[ HP:0002648 ! Abnormality of skull shape ] equivalent_class [ HP:0001362 ! Skull defect ]
[ HP:0002660 ! Increased fractures ] equivalent_class [ HP:0003084 ! Fractures of the long bones ]
[ HP:0002938 ! Lumbar hyperlordosis ] equivalent_class [ HP:0002941 ! Increased lumbar lordosis ]
[ HP:0002941 ! Increased lumbar lordosis ] equivalent_class [ HP:0002938 ! Lumbar hyperlordosis ]
[ HP:0002997 ! Abnormality of the ulna ] equivalent_class [ HP:0006495 ! Aplasia/Hypoplasia of the ulna ]
[ HP:0002998 ! Short ulna ] equivalent_class [ HP:0006444 ! Ulnae, relatively short ]
[ HP:0003015 ! Metaphyseal flaring ] equivalent_class _:splayed_metaphysis
[ HP:0003016 ! Widened metaphyses ] equivalent_class [ HP:0005074 ! Widened long bone metaphyses ]
[ HP:0003016 ! Widened metaphyses ] equivalent_class _:broad_metaphysis
[ HP:0003026 ! Short long bones ] equivalent_class [ HP:0006457 ! Long bone shortening ]
[ HP:0003084 ! Fractures of the long bones ] equivalent_class [ HP:0002660 ! Increased fractures ]
[ HP:0003094 ! Broad great toes ] equivalent_class [ HP:0010055 ! Broad hallux ]
[ HP:0003094 ! Broad great toes ] equivalent_class _:broad_first_toe
[ HP:0003187 ! Breast hypoplasia ] equivalent_class [ HP:0000784 ! Underdeveloped breasts ]
[ HP:0003370 ! Flat capital femoral epiphyses ] equivalent_class [ HP:0006393 ! Flat proximal femoral epiphyses ]
[ HP:0003373 ! Small pelvis ] equivalent_class [ HP:0009103 ! Aplasia/Hypoplasia involving the pelvis ]
[ HP:0003690 ! Limb muscle weakness ] equivalent_class [ HP:0002534 ! Limb weakness ]
[ HP:0003714 ! Lower leg atrophy ] equivalent_class [ HP:0003746 ! Amyotrophy involving the lower limbs ]
[ HP:0003746 ! Amyotrophy involving the lower limbs ] equivalent_class [ HP:0003714 ! Lower leg atrophy ]
[ HP:0003901 ! Stippled calcification of the humeral epiphyses ] equivalent_class [ HP:0008838 ! Stippled calcification proximal humeral epiphyses ]
[ HP:0003988 ! Long ulna ] equivalent_class [ HP:0006435 ! Disproportionately long ulnae ]
[ HP:0004054 ! Sclerosis of hand bones ] equivalent_class [ HP:0004055 ! Generalized sclerosis of hand bones ]
[ HP:0004055 ! Generalized sclerosis of hand bones ] equivalent_class [ HP:0004054 ! Sclerosis of hand bones ]
[ HP:0004144 ! Duplication of terminal index finger phalanx ] equivalent_class [ HP:0009950 ! Complete duplication of the distal phalanx of the 2nd finger ]
[ HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger ] equivalent_class [ HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger ]
[ HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger ] equivalent_class [ HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger ]
[ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ] equivalent_class [ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ]
[ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ] equivalent_class [ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ]
[ HP:0004288 ! Pseudoepiphyses of hand bones ] equivalent_class [ HP:0010235 ! Pseudoepiphyses of the phalanges of the hand ]
[ HP:0004322 ! Decreased body height ] equivalent_class [ HP:0001509 ! Short stature ]
[ HP:0004383 ! Hypoplastic left heart ] equivalent_class [ HP:0001961 ! Hypoplastic heart ]
[ HP:0004449 ! prominent ear lobules ] equivalent_class [ HP:0004456 ! Prominent ear lobes ]
[ HP:0004456 ! Prominent ear lobes ] equivalent_class [ HP:0004449 ! prominent ear lobules ]
[ HP:0004465 ! Malformation of auricle ] equivalent_class [ HP:0008562 ! Poorly formed pinnae ]
[ HP:0004482 ! Relative macrocephaly ] equivalent_class [ HP:0000256 ! Macrocephaly ]
[ HP:0004646 ! Nasal bone hypoplasia ] equivalent_class [ HP:0005281 ! Hypoplastic nasal bridge ]
[ HP:0004670 ! Facial muscle weakness, mild-to-moderate ] equivalent_class [ HP:0000353 ! Facial weakness, mild ]
[ HP:0004709 ! broad first metatarsal ] equivalent_class [ HP:0010068 ! Broad 1st metatarsal ]
[ HP:0004890 ! elevated pulmonary artery pressure ] equivalent_class [ HP:0004958 ! increased pulmonary artery pressure ]
[ HP:0004958 ! increased pulmonary artery pressure ] equivalent_class [ HP:0004890 ! elevated pulmonary artery pressure ]
[ HP:0004960 ! absent pulmonary artery ] equivalent_class [ HP:0008753 ! Absent/abnormal epiglottis ]
[ HP:0005062 ! Sclerotic, irregular metaphyses ] equivalent_class [ HP:0005078 ! Lucent/sclerotic metaphyseal irregularity ]
[ HP:0005074 ! Widened long bone metaphyses ] equivalent_class [ HP:0003016 ! Widened metaphyses ]
[ HP:0005074 ! Widened long bone metaphyses ] equivalent_class _:broad_metaphysis
[ HP:0005078 ! Lucent/sclerotic metaphyseal irregularity ] equivalent_class [ HP:0005062 ! Sclerotic, irregular metaphyses ]
[ HP:0005091 ! Asymmetric limb shortening ] equivalent_class [ HP:0005618 ! Asymmetric leg shortening ]
[ HP:0005097 ! ulnar hypoplasia/aplasia ] equivalent_class [ HP:0006410 ! Absent-hypoplastic ulnae ]
[ HP:0005281 ! Hypoplastic nasal bridge ] equivalent_class [ HP:0004646 ! Nasal bone hypoplasia ]
[ HP:0005618 ! Asymmetric leg shortening ] equivalent_class [ HP:0005091 ! Asymmetric limb shortening ]
[ HP:0005636 ! Generalized metaphyseal skeletal dysplasia ] equivalent_class [ HP:0000948 ! Metaphyseal dysplasia ]
[ HP:0005712 ! Corpus callosum atrophy ] equivalent_class [ HP:0007371 ! Atrophy/Degeneration of the corpus callosum ]
[ HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand ] equivalent_class [ HP:0005924 ! Abnormality of the epiphyses of the hand ]
[ HP:0005924 ! Abnormality of the epiphyses of the hand ] equivalent_class [ HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand ]
[ HP:0005935 ! Laryngeal hypoplasia ] equivalent_class [ HP:0008749 ! Hypoplastic larynx ]
[ HP:0006076 ! Short, broad distal phalanges, especially thumbs ] equivalent_class [ HP:0006199 ! Short, broad distal phalanges ]
[ HP:0006097 ! 3-4 finger syndactyly ] equivalent_class [ HP:0006133 ! Partial or complete syndactyly 3rd-4th fingers ]
[ HP:0006133 ! Partial or complete syndactyly 3rd-4th fingers ] equivalent_class [ HP:0006097 ! 3-4 finger syndactyly ]
[ HP:0006199 ! Short, broad distal phalanges ] equivalent_class [ HP:0006076 ! Short, broad distal phalanges, especially thumbs ]
[ HP:0006388 ! Hypoplastic/absent/deformed ulna ] equivalent_class [ HP:0006495 ! Aplasia/Hypoplasia of the ulna ]
[ HP:0006393 ! Flat proximal femoral epiphyses ] equivalent_class [ HP:0003370 ! Flat capital femoral epiphyses ]
[ HP:0006407 ! Small, irregular distal femoral epiphyses ] equivalent_class [ HP:0006456 ! Small, irregular proximal tibial epiphyses ]
[ HP:0006410 ! Absent-hypoplastic ulnae ] equivalent_class [ HP:0005097 ! ulnar hypoplasia/aplasia ]
[ HP:0006435 ! Disproportionately long ulnae ] equivalent_class [ HP:0003988 ! Long ulna ]
[ HP:0006444 ! Ulnae, relatively short ] equivalent_class [ HP:0002998 ! Short ulna ]
[ HP:0006456 ! Small, irregular proximal tibial epiphyses ] equivalent_class [ HP:0006407 ! Small, irregular distal femoral epiphyses ]
[ HP:0006457 ! Long bone shortening ] equivalent_class [ HP:0003026 ! Short long bones ]
[ HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet ] equivalent_class [ HP:0001764 ! Small feet ]
[ HP:0006495 ! Aplasia/Hypoplasia of the ulna ] equivalent_class [ HP:0002997 ! Abnormality of the ulna ]
[ HP:0006495 ! Aplasia/Hypoplasia of the ulna ] equivalent_class [ HP:0006388 ! Hypoplastic/absent/deformed ulna ]
[ HP:0006639 ! Pectus carinatum, severe ] equivalent_class [ HP:0000768 ! Pectus carinatum ]
[ HP:0006667 ! Broad, slightly short ribs ] equivalent_class [ HP:0000950 ! Broad short ribs ]
[ HP:0007210 ! Lower limb hypotrophy ] equivalent_class [ HP:0010496 ! Hypertrophy of the lower limb ]
[ HP:0007333 ! Hypoplastic frontal lobes ] equivalent_class [ HP:0002424 ! Frontal lobe hypoplasia ]
[ HP:0007371 ! Atrophy/Degeneration of the corpus callosum ] equivalent_class [ HP:0005712 ! Corpus callosum atrophy ]
[ HP:0007405 ! Telangiectases, random body distribution ] equivalent_class [ HP:0007489 ! Diffuse telangiectases ]
[ HP:0007419 ! Pale pigmentation ] equivalent_class [ HP:0000980 ! Pallor ]
[ HP:0007489 ! Diffuse telangiectases ] equivalent_class [ HP:0007405 ! Telangiectases, random body distribution ]
[ HP:0008056 ! Aplasia/Hypoplasia affecting the eye ] equivalent_class [ HP:0001143 ! Small eyes ]
[ HP:0008431 ! Underdeveloped vertebrae ] equivalent_class [ HP:0008515 ! Aplasia/Hypoplasia of the vertebrae ]
[ HP:0008515 ! Aplasia/Hypoplasia of the vertebrae ] equivalent_class [ HP:0008431 ! Underdeveloped vertebrae ]
[ HP:0008562 ! Poorly formed pinnae ] equivalent_class [ HP:0004465 ! Malformation of auricle ]
[ HP:0008586 ! Hypoplastic cochlea ] equivalent_class [ HP:0000376 ! Mondini malformation ]
[ HP:0008685 ! Ambiguous external genitalia at birth ] equivalent_class [ HP:0008693 ! Ambiguous external genitalia ]
[ HP:0008690 ! Ambiguous genitalia due to virilization ] equivalent_class [ HP:0000061 ! Ambiguous genitalia, female ]
[ HP:0008693 ! Ambiguous external genitalia ] equivalent_class [ HP:0008685 ! Ambiguous external genitalia at birth ]
[ HP:0008712 ! Renal malformation ] equivalent_class [ HP:0000792 ! Kidney malformation ]
[ HP:0008749 ! Hypoplastic larynx ] equivalent_class [ HP:0005935 ! Laryngeal hypoplasia ]
[ HP:0008753 ! Absent/abnormal epiglottis ] equivalent_class [ HP:0004960 ! absent pulmonary artery ]
[ HP:0008772 ! Aplasia/Hypoplasia of the outer ear ] equivalent_class [ HP:0000409 ! Small ears ]
[ HP:0008787 ! Congenital hip dysplasia ] equivalent_class [ HP:0001385 ! Hip dysplasia ]
[ HP:0008838 ! Stippled calcification proximal humeral epiphyses ] equivalent_class [ HP:0003901 ! Stippled calcification of the humeral epiphyses ]
[ HP:0008968 ! Muscle hypertrophy of the lower extremities ] equivalent_class [ HP:0009001 ! Lower limb muscle hypotrophy ]
[ HP:0008982 ! Peroneal atrophy ] equivalent_class [ HP:0009049 ! Peroneal muscle atrophy ]
[ HP:0009001 ! Lower limb muscle hypotrophy ] equivalent_class [ HP:0008968 ! Muscle hypertrophy of the lower extremities ]
[ HP:0009016 ! Upper limb muscle hypoplasia ] equivalent_class [ HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs ]
[ HP:0009034 ! Poorly developed skeletal musculature ] equivalent_class [ HP:0001460 ! Aplasia/Hypoplasia involving the musculature ]
[ HP:0009049 ! Peroneal muscle atrophy ] equivalent_class [ HP:0008982 ! Peroneal atrophy ]
[ HP:0009103 ! Aplasia/Hypoplasia involving the pelvis ] equivalent_class [ HP:0003373 ! Small pelvis ]
[ HP:0009143 ! Duplication of finger bones ] equivalent_class [ HP:0009998 ! Complete duplication of the phalanges of the hand ]
[ HP:0009157 ! Ivory epiphysis of the proximal phalanx of the 5th finger ] equivalent_class [ HP:0009209 ! Ivory epiphysis of the middle phalanx of the 5th finger ]
[ HP:0009175 ! Patchy sclerosis of the middle phalanx of the 5th finger ] equivalent_class [ HP:0009243 ! Patchy sclerosis of the distal phalanx of the 5th finger ]
[ HP:0009209 ! Ivory epiphysis of the middle phalanx of the 5th finger ] equivalent_class [ HP:0009157 ! Ivory epiphysis of the proximal phalanx of the 5th finger ]
[ HP:0009231 ! Patchy sclerosis of the proximal phalanx of the 5th finger ] equivalent_class [ HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger ]
[ HP:0009243 ! Patchy sclerosis of the distal phalanx of the 5th finger ] equivalent_class [ HP:0009175 ! Patchy sclerosis of the middle phalanx of the 5th finger ]
[ HP:0009304 ! Patchy sclerosis of the distal phalanx of the 4th finger ] equivalent_class [ HP:0009307 ! Patchy sclerosis of the middle phalanx of the 4th finger ]
[ HP:0009307 ! Patchy sclerosis of the middle phalanx of the 4th finger ] equivalent_class [ HP:0009304 ! Patchy sclerosis of the distal phalanx of the 4th finger ]
[ HP:0009322 ! Bracket epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009514 ! Bracket epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009324 ! Enlarged epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009516 ! Enlarged epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009325 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009517 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009326 ! Irregular epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009518 ! Irregular epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009327 ! Ivory epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009519 ! Ivory epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009329 ! Small epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009521 ! Small epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009330 ! Stippling of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009522 ! Stippling of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009331 ! Triangular epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009523 ! Triangular epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009347 ! Bracket epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009525 ! Bracket epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009350 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009528 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009351 ! Irregular epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009529 ! Irregular epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009352 ! Ivory epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009530 ! Ivory epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009355 ! Stippling of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009533 ! Stippling of the epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger ] equivalent_class [ HP:0009231 ! Patchy sclerosis of the proximal phalanx of the 5th finger ]
[ HP:0009382 ! Absent epiphyses of the 5th finger ] equivalent_class [ HP:0009410 ! Absent epiphyses of the 3rd finger ]
[ HP:0009410 ! Absent epiphyses of the 3rd finger ] equivalent_class [ HP:0009382 ! Absent epiphyses of the 5th finger ]
[ HP:0009425 ! Patchy sclerosis of the distal phalanx of the 3rd finger ] equivalent_class [ HP:0009434 ! Patchy sclerosis of the middle phalanx of the 3rd finger ]
[ HP:0009434 ! Patchy sclerosis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009425 ! Patchy sclerosis of the distal phalanx of the 3rd finger ]
[ HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger ] equivalent_class [ HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger ]
[ HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009514 ! Bracket epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009322 ! Bracket epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009516 ! Enlarged epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009324 ! Enlarged epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009517 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009325 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009518 ! Irregular epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009326 ! Irregular epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009519 ! Ivory epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009327 ! Ivory epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009521 ! Small epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009329 ! Small epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009522 ! Stippling of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009330 ! Stippling of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009523 ! Triangular epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009331 ! Triangular epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009525 ! Bracket epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009347 ! Bracket epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009528 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009350 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009529 ! Irregular epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009351 ! Irregular epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009530 ! Ivory epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009352 ! Ivory epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009533 ! Stippling of the epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009355 ! Stippling of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger ] equivalent_class [ HP:0009561 ! Osteolytic defects of the distal phalanx of the 2nd finger ]
[ HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger ] equivalent_class [ HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger ]
[ HP:0009561 ! Osteolytic defects of the distal phalanx of the 2nd finger ] equivalent_class [ HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger ]
[ HP:0009562 ! Patchy sclerosis of the distal phalanx of the 2nd finger ] equivalent_class [ HP:0009573 ! Patchy sclerosis of the middle phalanx of the 2nd finger ]
[ HP:0009573 ! Patchy sclerosis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009562 ! Patchy sclerosis of the distal phalanx of the 2nd finger ]
[ HP:0009630 ! Broad proximal phalanx of the thumb ] equivalent_class [ HP:0009642 ! Broad distal phalanx of the thumb ]
[ HP:0009642 ! Broad distal phalanx of the thumb ] equivalent_class [ HP:0009630 ! Broad proximal phalanx of the thumb ]
[ HP:0009661 ! Complete/partial duplication of phalanges of the thumb ] equivalent_class [ HP:0009942 ! Partial/complete duplication of phalanges of the thumb ]
[ HP:0009673 ! Stippling of the epiphysis of the proximal phalanx of the thumb ] equivalent_class [ HP:0009684 ! Stippling of the epiphysis of the distal phalanx of the thumb ]
[ HP:0009684 ! Stippling of the epiphysis of the distal phalanx of the thumb ] equivalent_class [ HP:0009673 ! Stippling of the epiphysis of the proximal phalanx of the thumb ]
[ HP:0009686 ! Absent epiphyses of the thumb ] equivalent_class [ HP:0009777 ! Aplasia of the thumb ]
[ HP:0009777 ! Aplasia of the thumb ] equivalent_class [ HP:0009686 ! Absent epiphyses of the thumb ]
[ HP:0009799 ! Supernumerary spleens ] equivalent_class [ HP:0001748 ! Polysplenia ]
[ HP:0009882 ! Hypoplasia of the distal phalanges of the hand ] equivalent_class [ HP:0001202 ! Hypoplastic distal phalanges ]
[ HP:0009942 ! Partial/complete duplication of phalanges of the thumb ] equivalent_class [ HP:0009661 ! Complete/partial duplication of phalanges of the thumb ]
[ HP:0009950 ! Complete duplication of the distal phalanx of the 2nd finger ] equivalent_class [ HP:0004144 ! Duplication of terminal index finger phalanx ]
[ HP:0009951 ! Partial duplication of the distal phalanx of the 2nd finger ] equivalent_class [ HP:0009995 ! Partial duplication of the middle phalanx of the 5th finger ]
[ HP:0009995 ! Partial duplication of the middle phalanx of the 5th finger ] equivalent_class [ HP:0009951 ! Partial duplication of the distal phalanx of the 2nd finger ]
[ HP:0009998 ! Complete duplication of the phalanges of the hand ] equivalent_class [ HP:0009143 ! Duplication of finger bones ]
[ HP:0010052 ! Abnormality of the proximal phalanx of the hallux ] equivalent_class [ HP:0010053 ! Abnormality of the distal phalanx of the hallux ]
[ HP:0010053 ! Abnormality of the distal phalanx of the hallux ] equivalent_class [ HP:0010052 ! Abnormality of the proximal phalanx of the hallux ]
[ HP:0010055 ! Broad hallux ] equivalent_class [ HP:0003094 ! Broad great toes ]
[ HP:0010055 ! Broad hallux ] equivalent_class _:broad_first_toe
[ HP:0010057 ! Abnormality of the phalanges of the hallux ] equivalent_class [ HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux ]
[ HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux ] equivalent_class [ HP:0010057 ! Abnormality of the phalanges of the hallux ]
[ HP:0010068 ! Broad 1st metatarsal ] equivalent_class [ HP:0004709 ! broad first metatarsal ]
[ HP:0010109 ! Hypoplastic/small hallux ] equivalent_class _:short_first_toe
[ HP:0010168 ! Ivory epiphyses of the toes ] equivalent_class [ HP:0010171 ! Stippling of the epiphyses of the toes ]
[ HP:0010171 ! Stippling of the epiphyses of the toes ] equivalent_class [ HP:0010168 ! Ivory epiphyses of the toes ]
[ HP:0010178 ! Patchy sclerosis of the phalanges of the toes ] equivalent_class [ HP:0010187 ! Bullet-shaped distal phalanges of the toes ]
[ HP:0010187 ! Bullet-shaped distal phalanges of the toes ] equivalent_class [ HP:0010178 ! Patchy sclerosis of the phalanges of the toes ]
[ HP:0010235 ! Pseudoepiphyses of the phalanges of the hand ] equivalent_class [ HP:0004288 ! Pseudoepiphyses of hand bones ]
[ HP:0010295 ! Aplasia/Hypoplasia of the tongue ] equivalent_class [ HP:0000226 ! Small tongue ]
[ HP:0010349 ! Bullet-shaped phalanges of the 2nd toe ] equivalent_class [ HP:0010361 ! Bullet-shaped phalanges of the 3rd toe ]
[ HP:0010361 ! Bullet-shaped phalanges of the 3rd toe ] equivalent_class [ HP:0010349 ! Bullet-shaped phalanges of the 2nd toe ]
[ HP:0010450 ! Esophageal stenosis ] equivalent_class [ HP:0002043 ! Esophageal stricture ]
[ HP:0010496 ! Hypertrophy of the lower limb ] equivalent_class [ HP:0007210 ! Lower limb hypotrophy ]
[ HP:0010623 ! Abnormality of the fingernails ] equivalent_class [ HP:0001231 ! Abnormalities of the fingernails ]
_:broad_first_toe equivalent_class [ HP:0003094 ! Broad great toes ]
_:broad_first_toe equivalent_class [ HP:0010055 ! Broad hallux ]
_:broad_metaphysis equivalent_class [ HP:0003016 ! Widened metaphyses ]
_:broad_metaphysis equivalent_class [ HP:0005074 ! Widened long bone metaphyses ]
_:proximal_limb_muscle equivalent_class _:proximal_lower_limb_muscle
_:proximal_lower_limb_muscle equivalent_class _:proximal_limb_muscle
_:short_first_toe equivalent_class [ HP:0010109 ! Hypoplastic/small hallux ]
_:splayed_metaphysis equivalent_class [ HP:0003015 ! Metaphyseal flaring ]
_:straight_clavicles equivalent_class [ HP:0000894 ! Short clavicles ]
_:zygomatic_bone_hypoplasia equivalent_class [ HP:0000272 ! Malar hypoplasia ]
[ HP:0000179 ! Prominent lower lip ] equivalent_class [ HP:0002712 ! Protruding lower lip ]
[ HP:0000953 ! Hyperpigmentation ] equivalent_class [ HP:0007527 ! Increased skin pigmentation ]
[ HP:0001165 ! Small hands ] equivalent_class [ HP:0004279 ! Hypoplastic hand ]
[ HP:0001371 ! Contractures ] equivalent_class [ HP:0001372 ! Joint contractures ]
[ HP:0001372 ! Joint contractures ] equivalent_class [ HP:0001371 ! Contractures ]
[ HP:0001410 ! Decreased liver function ] equivalent_class [ HP:0004393 ! Liver dysfunction ]
[ HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature ] equivalent_class [ HP:0008952 ! Shoulder muscle hypoplasia ]
[ HP:0001590 ! Small chest ] equivalent_class [ HP:0005257 ! Thoracic hypoplasia ]
[ HP:0001771 ! Achilles tendon contractures ] equivalent_class [ HP:0004711 ! Shortening of the achilles tendon ]
[ HP:0001857 ! Hypoplastic distal phalanges (feet) ] equivalent_class [ HP:0005735 ! Hypoplasia/agenesis of distal phalanges of toes ]
[ HP:0001861 ! Short, broad halluces ] equivalent_class [ HP:0008105 ! Short, broad first toe ]
[ HP:0002712 ! Protruding lower lip ] equivalent_class [ HP:0000179 ! Prominent lower lip ]
[ HP:0002860 ! Squamous cell carcinoma ] equivalent_class [ HP:0006739 ! Squamous cell carcinoma of the skin ]
[ HP:0002866 ! Hypoplastic iliac wings ] equivalent_class [ HP:0003169 ! Small iliac wings ]
[ HP:0003169 ! Small iliac wings ] equivalent_class [ HP:0002866 ! Hypoplastic iliac wings ]
[ HP:0003311 ! Hypoplastic odontoid process ] equivalent_class [ HP:0004613 ! Small odontoid process ]
[ HP:0004279 ! Hypoplastic hand ] equivalent_class [ HP:0001165 ! Small hands ]
[ HP:0004393 ! Liver dysfunction ] equivalent_class [ HP:0001410 ! Decreased liver function ]
[ HP:0004613 ! Small odontoid process ] equivalent_class [ HP:0003311 ! Hypoplastic odontoid process ]
[ HP:0004711 ! Shortening of the achilles tendon ] equivalent_class [ HP:0001771 ! Achilles tendon contractures ]
[ HP:0005257 ! Thoracic hypoplasia ] equivalent_class [ HP:0001590 ! Small chest ]
[ HP:0005735 ! Hypoplasia/agenesis of distal phalanges of toes ] equivalent_class [ HP:0001857 ! Hypoplastic distal phalanges (feet) ]
[ HP:0005740 ! Small iliac bodies ] equivalent_class [ HP:0008824 ! Hypoplastic iliac body ]
[ HP:0006029 ! Small, irregular carpal bones ] equivalent_class [ HP:0006072 ! Small, irregular carpals ]
[ HP:0006072 ! Small, irregular carpals ] equivalent_class [ HP:0006029 ! Small, irregular carpal bones ]
[ HP:0006429 ! Broad femoral neck ] equivalent_class [ HP:0008804 ! Broad femoral heads and necks ]
[ HP:0006739 ! Squamous cell carcinoma of the skin ] equivalent_class [ HP:0002860 ! Squamous cell carcinoma ]
[ HP:0007126 ! Proximal amyotrophy ] equivalent_class [ HP:0008956 ! Proximal lower limb muscle atrophy ]
[ HP:0007527 ! Increased skin pigmentation ] equivalent_class [ HP:0000953 ! Hyperpigmentation ]
[ HP:0008105 ! Short, broad first toe ] equivalent_class [ HP:0001861 ! Short, broad halluces ]
[ HP:0008804 ! Broad femoral heads and necks ] equivalent_class [ HP:0006429 ! Broad femoral neck ]
[ HP:0008824 ! Hypoplastic iliac body ] equivalent_class [ HP:0005740 ! Small iliac bodies ]
[ HP:0008952 ! Shoulder muscle hypoplasia ] equivalent_class [ HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature ]
[ HP:0008956 ! Proximal lower limb muscle atrophy ] equivalent_class [ HP:0007126 ! Proximal amyotrophy ]
[ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ] equivalent_class [ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ]
[ HP:0009223 ! Stippling of the epiphysis of the middle phalanx of the 4th finger ] equivalent_class [ HP:0009259 ! Stippling of the epiphysis of the distal phalanx of the 4th finger ]
[ HP:0009223 ! Stippling of the epiphysis of the middle phalanx of the 4th finger ] equivalent_class [ HP:0009270 ! Stippling of the epiphysis of the proximal phalanx of the 4th finger ]
[ HP:0009259 ! Stippling of the epiphysis of the distal phalanx of the 4th finger ] equivalent_class [ HP:0009223 ! Stippling of the epiphysis of the middle phalanx of the 4th finger ]
[ HP:0009259 ! Stippling of the epiphysis of the distal phalanx of the 4th finger ] equivalent_class [ HP:0009270 ! Stippling of the epiphysis of the proximal phalanx of the 4th finger ]
[ HP:0009270 ! Stippling of the epiphysis of the proximal phalanx of the 4th finger ] equivalent_class [ HP:0009223 ! Stippling of the epiphysis of the middle phalanx of the 4th finger ]
[ HP:0009270 ! Stippling of the epiphysis of the proximal phalanx of the 4th finger ] equivalent_class [ HP:0009259 ! Stippling of the epiphysis of the distal phalanx of the 4th finger ]
[ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ] equivalent_class [ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ]
[ HP:0009402 ! Stippling of the epiphyses of 4th finger ] equivalent_class [ HP:0009419 ! Stippling of the epiphyses of 3rd finger ]
[ HP:0009419 ! Stippling of the epiphyses of 3rd finger ] equivalent_class [ HP:0009402 ! Stippling of the epiphyses of 4th finger ]
[ HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger ] equivalent_class [ HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger ]
[ HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger ]
[ HP:0009321 ! Absent epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009346 ! Absent epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009321 ! Absent epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009513 ! Absent epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009322 ! Bracket epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009347 ! Bracket epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009322 ! Bracket epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009525 ! Bracket epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009323 ! Cone-shaped epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009348 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009323 ! Cone-shaped epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009515 ! Cone-shaped epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009323 ! Cone-shaped epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009526 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009324 ! Enlarged epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009349 ! Enlarged epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009324 ! Enlarged epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009527 ! Enlarged epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009325 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009350 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009325 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009528 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009326 ! Irregular epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009351 ! Irregular epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009326 ! Irregular epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009529 ! Irregular epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009327 ! Ivory epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009352 ! Ivory epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009327 ! Ivory epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009530 ! Ivory epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009328 ! Pseudoepiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009353 ! Pseudoepiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009328 ! Pseudoepiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009520 ! Pseudoepiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009329 ! Small epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009354 ! Small epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009329 ! Small epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009532 ! Small epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009330 ! Stippling of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009355 ! Stippling of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009330 ! Stippling of the epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009533 ! Stippling of the epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009331 ! Triangular epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009356 ! Triangular epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009331 ! Triangular epiphysis of the middle phalanx of the 3rd finger ] equivalent_class [ HP:0009534 ! Triangular epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009346 ! Absent epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009321 ! Absent epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009346 ! Absent epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009513 ! Absent epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009347 ! Bracket epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009322 ! Bracket epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009347 ! Bracket epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009514 ! Bracket epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009348 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009323 ! Cone-shaped epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009348 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009515 ! Cone-shaped epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009348 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009526 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009349 ! Enlarged epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009324 ! Enlarged epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009349 ! Enlarged epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009516 ! Enlarged epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009349 ! Enlarged epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009527 ! Enlarged epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009350 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009325 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009350 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009517 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009351 ! Irregular epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009326 ! Irregular epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009351 ! Irregular epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009518 ! Irregular epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009352 ! Ivory epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009327 ! Ivory epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009352 ! Ivory epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009519 ! Ivory epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009353 ! Pseudoepiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009328 ! Pseudoepiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009353 ! Pseudoepiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009520 ! Pseudoepiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009354 ! Small epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009329 ! Small epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009354 ! Small epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009521 ! Small epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009354 ! Small epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009532 ! Small epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009355 ! Stippling of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009330 ! Stippling of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009355 ! Stippling of the epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009522 ! Stippling of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009356 ! Triangular epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009331 ! Triangular epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009356 ! Triangular epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009523 ! Triangular epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009356 ! Triangular epiphysis of the proximal phalanx of the 3rd finger ] equivalent_class [ HP:0009534 ! Triangular epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009513 ! Absent epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009321 ! Absent epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009513 ! Absent epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009346 ! Absent epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009514 ! Bracket epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009347 ! Bracket epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009514 ! Bracket epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009525 ! Bracket epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009515 ! Cone-shaped epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009323 ! Cone-shaped epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009515 ! Cone-shaped epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009348 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009515 ! Cone-shaped epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009526 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009516 ! Enlarged epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009349 ! Enlarged epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009516 ! Enlarged epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009527 ! Enlarged epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009517 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009350 ! Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009517 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009528 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009518 ! Irregular epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009351 ! Irregular epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009518 ! Irregular epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009529 ! Irregular epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009519 ! Ivory epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009352 ! Ivory epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009519 ! Ivory epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009530 ! Ivory epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009520 ! Pseudoepiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009328 ! Pseudoepiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009520 ! Pseudoepiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009353 ! Pseudoepiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009521 ! Small epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009354 ! Small epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009521 ! Small epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009532 ! Small epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009522 ! Stippling of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009355 ! Stippling of the epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009522 ! Stippling of the epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009533 ! Stippling of the epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009523 ! Triangular epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009356 ! Triangular epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009523 ! Triangular epiphysis of the middle phalanx of the 2nd finger ] equivalent_class [ HP:0009534 ! Triangular epiphysis of the proximal phalanx of the 2nd finger ]
[ HP:0009525 ! Bracket epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009322 ! Bracket epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009525 ! Bracket epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009514 ! Bracket epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009526 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009323 ! Cone-shaped epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009526 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009348 ! Cone-shaped epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009526 ! Cone-shaped epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009515 ! Cone-shaped epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009527 ! Enlarged epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009324 ! Enlarged epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009527 ! Enlarged epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009349 ! Enlarged epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009527 ! Enlarged epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009516 ! Enlarged epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009528 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009325 ! Fragmentation of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009528 ! Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009517 ! Fragmentation of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009529 ! Irregular epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009326 ! Irregular epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009529 ! Irregular epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009518 ! Irregular epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009530 ! Ivory epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009327 ! Ivory epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009530 ! Ivory epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009519 ! Ivory epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009532 ! Small epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009329 ! Small epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009532 ! Small epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009354 ! Small epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009532 ! Small epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009521 ! Small epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009533 ! Stippling of the epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009330 ! Stippling of the epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009533 ! Stippling of the epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009522 ! Stippling of the epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0009534 ! Triangular epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009331 ! Triangular epiphysis of the middle phalanx of the 3rd finger ]
[ HP:0009534 ! Triangular epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009356 ! Triangular epiphysis of the proximal phalanx of the 3rd finger ]
[ HP:0009534 ! Triangular epiphysis of the proximal phalanx of the 2nd finger ] equivalent_class [ HP:0009523 ! Triangular epiphysis of the middle phalanx of the 2nd finger ]
[ HP:0004192 ! Bracket epiphyses of the 4th finger ] equivalent_class [ HP:0009394 ! Bracket epiphyses of the 4th finger ]
[ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ] equivalent_class [ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ]
[ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ] equivalent_class [ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ]
[ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ] equivalent_class [ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ]
[ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ] equivalent_class [ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ]
[ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ] equivalent_class [ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ]
[ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ] equivalent_class [ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ]
[ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ] equivalent_class [ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ]
[ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ] equivalent_class [ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ]
[ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ] equivalent_class [ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ]
[ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ] equivalent_class [ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ]
[ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ] equivalent_class [ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ]
[ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ] equivalent_class [ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ]
[ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ] equivalent_class [ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ]
[ HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger ] equivalent_class [ HP:0009226 ! Hypoplastic/small proximal phalanx of the 5th finger ]
[ HP:0009226 ! Hypoplastic/small proximal phalanx of the 5th finger ] equivalent_class [ HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger ]
[ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ] equivalent_class [ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ]
[ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ] equivalent_class [ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ]
[ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ] equivalent_class [ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ]
[ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ] equivalent_class [ HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger ]
[ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ] equivalent_class [ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ]
[ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ] equivalent_class [ HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger ]
[ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ] equivalent_class [ HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger ]
[ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ] equivalent_class [ HP:0006171 ! Fifth digit middle or distal phalangeal hypoplasia ]
[ HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger ] equivalent_class [ HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger ]
[ HP:0009394 ! Bracket epiphyses of the 4th finger ] equivalent_class [ HP:0004192 ! Bracket epiphyses of the 4th finger ]
[ HP:0009162 ! Aplasia of the middle phalanx of the 5th finger ] equivalent_class [ HP:0009246 ! Aplasia of the distal phalanx of the 5th finger ]
[ HP:0009246 ! Aplasia of the distal phalanx of the 5th finger ] equivalent_class [ HP:0009162 ! Aplasia of the middle phalanx of the 5th finger ]

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/16

HP:0001660 ! truncus arteriosus

Should this be named “persistent truncus arteriosus”?

AFAIK, truncus arteriosus is a normal embryological entity. The pathological phenotype is the failure of the truncus arteriosus to divide.

(source: wikipedia)

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/2

bowel atresia

This bowel atresia term has atrial fibrillation or flutter as a parent. This should probably be removed. Also, there isn't a bowel atresia term, just this multiple small... term. Should bowel atresia be added as a term or as a synonym for another term?

Thanks,
Barbara

[Term]
id: HP:0004797
name: Multiple small bowel atresias
namespace: medical_genetics
xref: UMLS:C1857476
is_a: HP:0004749 ! Atrial fibrillation or flutter

Reported by: bjruef

Original Ticket: obo/human-phenotype-requests/48

dysharmonic bone age

need new parent term 'dysharmonic bone age' for 'dysharmonic delayed bone age'.
also add sibling, dysharmonic accelerated bone age'.

Reported by: mellybelly

Original Ticket: obo/human-phenotype-requests/6

apnea

HP has apneic episodes is_a apnea. This doesn't make sense.

no defs for either.

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/5

Gout (HP:0001997)

The is_a definition (see below) seems wrong, but I am no medical expert...

[Term]
id: HP:0001997
name: Gout
namespace: medical_genetics
xref: UMLS:C0018099
is_a: HP:0004368 ! Increased purine levels

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/45

Don't mix structure and function

Applying the functional abnormality ontology pattern to anatomical functions. Robert Hoehndorf et al. Journal of Biomedical Semantics, 2010.

We should not mix structure and function as in ABNORMALITY OF TEAR GLANDS OR TEAR PRODUCTION (HP:0000521)

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/24

dislocation

....is_a HP:0001367 ! Abnormality of the joints
.....is_a HP:0001373 ! Dislocations ***
......is_a HP:0002772 ! Joint dislocations
......is_a HP:0002827 ! Dislocated hips
......is_a HP:0005191 ! Congenital knee dislocation

merge HP:0002772 and HP:0001373 ?

also - change to singular form?

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/4

HP:0001279 - syncope

Currently under organ abnormality (An abnormality which occurs in any one or more organ or organ-system of the body.) > Abnormality of the cardiovascular system (Any abnormality of the heart or vasculature.)
There is no definition currently in the file for syncope, but I would have thought it would be a process (eg "Syncope is the medical term for fainting, a sudden, usually temporary, loss of consciousness generally caused by insufficient oxygen in the brain either through cerebral hypoxia or through hypotension, but possibly for other reasons. from http://en.wikipedia.org/wiki/Syncope\_%28medicine%29\)

There doesn't seem to be a distinction between continuants and occurrents in HPO, is that something planned? Would I still be correct by asserting syncope under processual entity and adding an xref to the HPO term?

Thanks,
Melanie

Reported by: mcourtot

Original Ticket: obo/human-phenotype-requests/14

Remove leading upper case on terms

..except for proper names, e.g. Parkinsons

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/9

erroneous HP:0004806 synonyms

Auditory synonyms should be removed.

[Term]
id: HP:0004806
name: chronic immune thrombocytopenia
namespace: medical_genetics
synonym: "Abnormal auditory brainstem responses" EXACT []
synonym: "Abnormal brain auditory evoked responses" EXACT []
synonym: "Abnormal brainstem auditory evoked potentials" EXACT []

Reported by: bjruef

Original Ticket: obo/human-phenotype-requests/49

absent *

hoehndorf suggests to replace absent by lacking

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/25

missing general terms

can we add more general terms like

fistula, pits, earpits, ...

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/26

term request (unilateral cleft lip)

I would like to have the term

unilateral cleft lip

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/29

ocular albinism

Can we have a text def for HP:0001107 ! Ocular albinism?

Should this be a subclass of albinism?

Is this actually a superclass of 4 OMIM disorders?
http://en.wikipedia.org/wiki/Oculocutaneous\_albinism

is the xp definition accurate?

id: HP:0001107
name: Ocular albinism
namespace: medical_genetics
xref: UMLS:C0078917
is_a: HP:0000525 ! Abnormality of the iris
is_a: HP:0001098 ! Abnormality of the fundus
intersection_of: PATO:0001558 ! lacking processual parts
intersection_of: OBO_REL:inheres_in FMA:54448 ! Eye
intersection_of: towards GO:0006582 ! melanin metabolic process

it says Eye but the graphs says ocular fundus and iris.

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/31

phenotype_annotation.omim.gz really up to date?

Hi,

Is http://www.human-phenotype-ontology.org/phenotype\_annotation.omim.gz
really up to date?
I see OMIM and gene maped entries in PhenExplorer, but not in the file
For example
[rstats:HPO] grep "HP:0002450" phenotype_annotation.omim
Exit 1

but it has OMIM links in PhenExplore
How do you provide gene mapping. I assumed that it is through OMIM. But I see entries with multiple genes via

Reported by: *anonymous

Original Ticket: obo/human-phenotype-requests/17

Splayed epiphyses and metaphyses

HP has "Splayed epiphyses and metaphyses"

but neither "splayed epiphyses" nor "splayed metaphyses"

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/7

wrong synonym in mental retardation

Hi,

severe mental retardation
is a synonym of
mental retardation, progressive. the annotations to this term have to be checked/changed before chaning this.

best regards,
sebastian

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/22

Spastic hemiplegia

The parent term should be Spasticity (HP:0001257)

Reported by: elodiepc

Original Ticket: obo/human-phenotype-requests/50

peripheral sensory neuropathy

..is_a HP:0000118 ! organ abnormality
…is_a HP:0000707 ! neurological abnormality
….is_a HP:0000759 ! abnormality of the peripheral nervous system
…..is_a HP:0001271 ! polyneuropathy
……is_a HP:0000763 ! sensory neuropathy
…….is_a HP:0003410 ! peripheral sensory neuropathy *

It’s hard to tell without definitions, but I would take the differentium of PSN to be that it inheres in the PNS. But this is already a given, as PSN is under HP:759

Perhaps PSN and SN should be merged?

according to wikipedia:

Neuropathy is a medical term describing disorders of the nerves of the peripheral nervous system (specifically excluding encephalopathy and myelopathy, which refer to the central nervous system.)¹ It is usually considered equivalent to peripheral neuropathy.

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/3

700 links suggested by reasoner using hp_xp_FMA

the first part of the report is inferred equivalent classes. Each of these should result in a merge in HP or a fix to HP_XP

The second part of the report is inferred is_a links. Each of these should result in a link being added to HP or a fix to HP_XP or a tracker item for FMA

(see attached)

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/12

Functional abnormality of the bladder

How to best define HP:0000009 (Functional abnormality of the bladder).

Currently:
A functional abnormality of the urinary bladder (FMA:15900).
Should this definition include the GO term for micturation (urination)
GO:0060073 ?

Reported by: *anonymous

Original Ticket: obo/human-phenotype-requests/44

term request (cat cry, cri du chat, cri de chat)

as phenotype trait, not as 5p syndrome

Reported by: svanvoor

Original Ticket: obo/human-phenotype-requests/38

logical definition mismatches

these are classes in which the logical definition uses a genus from HP that was no already declared a supertype. Some of these will be errors that need fixed in HP-XP but I believe the majority of them stem from major problems in HP. A typical example is a label like "Clinodactyly" being used in to mean something more specific that the label suggests (e.g. radial deviation of the fingers), and then introducing a term like "Fifth toe clinodactyly".

So we have a structure like this

......is_a HP:0001155 ! Abnormality of the hand
.......is_a HP:0001167 ! Abnormality of the fingers
........is_a HP:0004097 ! Deviated fingers
.........is_a HP:0009466 ! Radial deviation of fingers
..........is_a HP:0001157 ! Clinodactyly ***
.
.
.....is_a HP:0001760 ! Abnormality of the feet
.......is_a HP:0001780 ! Abnormality of the toes
........is_a HP:0001863 ! Clinodactyly (feet)
.........is_a HP:0001864 ! Fifth toe clinodactyly ***

This is madness!

HP should follow the norms of the other OBO ontologies and use generic labels for generic classes, and then introduce qualifiers on more specific classes. For example, this makes much more sense:

- Clinodactyly
-- Clinodactyly of feet
-- Clinodactyly of hands

Remember we can use the reasoner to do the entire classification automatically, but this won't work until we have sorted out all these inconsistencies

Here is the list:

HP:0003363-Abdominal situs inversus HP:0001696-Situs inversus
HP:0001256-Mental retardation, mild HP:0001263-Developmental retardation
HP:0003665-Amyotrophy of the musculature of the pelvis HP:0003202-Amyotrophy
HP:0006887-Mental retardation, progressive HP:0001263-Developmental retardation
HP:0006640-Multiple rib fractures HP:0002757-Recurrent fractures
HP:0003044-Shoulder contractures HP:0001371-Contractures
HP:0004588-lumbar platyspondyly, mild HP:0005787-Lumbar platyspondyly
HP:0008481-Mild odontoid hypoplasia HP:0004613-Small odontoid process
HP:0005719-Mild vertebral anomalies HP:0003312-Abnormal form of the vertebral bodies
HP:0003306-Spinal rigidity HP:0002063-Rigidity
HP:0005685-Severe skeletal dysplasia HP:0002656-Epiphyseal dysplasia
HP:0003273-Hip contractures HP:0001371-Contractures
HP:0009469-Contracture of the distal interphalangeal joint of the 3rd finger HP:0001371-Contractures
HP:0009470-Contracture of the metacarpophalangeal joint of the 3rd finger HP:0001371-Contractures
HP:0009471-Contracture of the proximal interphalangeal joint of the 3rd finger HP:0001371-Contractures
HP:0009424-Osteolytic defects of the distal phalanx of the 3rd finger HP:0002797-Osteolysis
HP:0006449-Distal radial epiphyseal osteolysis HP:0002797-Osteolysis
HP:0009303-Osteolytic defects of the distal phalanx of the 4th finger HP:0002797-Osteolysis
HP:0009242-Osteolytic defects of the distal phalanx of the 5th finger HP:0002797-Osteolysis
HP:0009268-Pseudoepiphysis of the proximal phalanx of the 4th finger HP:0010584-Pseudoepiphyses
HP:0004288-Pseudoepiphyses of hand bones HP:0010584-Pseudoepiphyses
HP:0010235-Pseudoepiphyses of the phalanges of the hand HP:0010584-Pseudoepiphyses
HP:0009495-Pseudoepiphyses of the 2nd finger HP:0010584-Pseudoepiphyses
HP:0009188-Pseudoepiphysis of the distal phalanx of the 5th finger HP:0010584-Pseudoepiphyses
HP:0009771-Osteolytic defects of the phalanges of the hand HP:0002797-Osteolysis
HP:0009839-Osteolytic defects of the distal phalanges of the hand HP:0002797-Osteolysis
HP:0009847-Osteolytic defects of the middle phalanges of the hand HP:0002797-Osteolysis
HP:0010169-Pseudoepiphyses of the toes HP:0010584-Pseudoepiphyses
HP:0009200-Pseudoepiphysis of the proximal phalanx of the 5th finger HP:0010584-Pseudoepiphyses
HP:0010275-Pseudoepiphyses of the proximal phalanges of the hand HP:0010584-Pseudoepiphyses
HP:0010253-Pseudoepiphyses of the distal phalanges of the hand HP:0010584-Pseudoepiphyses
HP:0009210-Pseudoepiphysis of the middle phalanx of the 5th finger HP:0010584-Pseudoepiphyses
HP:0009193-Pseudoepiphyses of the metacarpals HP:0010584-Pseudoepiphyses
HP:0009389-Pseudoepiphyses of the 5th finger HP:0010584-Pseudoepiphyses
HP:0009257-Pseudoepiphysis of the distal phalanx of the 4th finger HP:0010584-Pseudoepiphyses
HP:0009682-Pseudoepiphysis of the distal phalanx of the thumb HP:0010584-Pseudoepiphyses
HP:0009221-Pseudoepiphysis of the middle phalanx of the 4th finger HP:0010584-Pseudoepiphyses
HP:0009342-Pseudoepiphysis of the distal phalanx of the 3rd finger HP:0010584-Pseudoepiphyses
HP:0009328-Pseudoepiphysis of the middle phalanx of the 3rd finger HP:0010584-Pseudoepiphyses
HP:0009353-Pseudoepiphysis of the proximal phalanx of the 3rd finger HP:0010584-Pseudoepiphyses
HP:0009509-Pseudoepiphysis of the distal phalanx of the 2nd finger HP:0010584-Pseudoepiphyses
HP:0009531-Pseudoepiphysis of the proximal phalanx of the 2nd finger HP:0010584-Pseudoepiphyses
HP:0009520-Pseudoepiphysis of the middle phalanx of the 2nd finger HP:0010584-Pseudoepiphyses
HP:0010134-Pseudoepiphysis of the proximal phalanx of the hallux HP:0010584-Pseudoepiphyses
HP:0010145-Pseudoepiphysis of the distal phalanx of the hallux HP:0010584-Pseudoepiphyses
HP:0010333-Joint contractures of the 3rd toe HP:0001372-Joint contractures
HP:0006511-Laryngeal stridor HP:0010307-Stridor
HP:0006094-Finger joint hypermobility HP:0001382-Joint hypermobility
HP:0009184-Contracture of the distal interphalangeal joint of the 5th finger HP:0001371-Contractures
HP:0009185-Contracture of the proximal interphalangeal joint of the 5th finger HP:0001371-Contractures
HP:0009186-Contracture of the metacarpophalangeal joint of the 5th finger HP:0001371-Contractures
HP:0009275-Contracture of the distal interphalangeal joint of the 4th finger HP:0001371-Contractures
HP:0009276-Contracture of the proximal interphalangeal joint of the 4th finger HP:0001371-Contractures
HP:0009277-Contracture of the metacarpophalangeal joint of the 4th finger HP:0001371-Contractures
HP:0009697-Contractures of the distal interphalangeal joints of the fingers HP:0001371-Contractures
HP:0009538-Contracture of the distal interphalangeal joint of the 2nd finger HP:0001371-Contractures
HP:0009539-Contracture of the metacarpophalangeal joint of the 2nd finger HP:0001371-Contractures
HP:0009540-Contracture of the proximal interphalangeal joint of the 2nd finger HP:0001371-Contractures
HP:0010264-Pseudoepiphyses of the middle phalanges of the hand HP:0010584-Pseudoepiphyses
HP:0009572-Osteolytic defects of the middle phalanx of the 2nd finger HP:0002797-Osteolysis
HP:0009433-Osteolytic defects of the middle phalanx of the 3rd finger HP:0002797-Osteolysis
HP:0009297-Osteolytic defects of the middle phalanx of the 4th finger HP:0002797-Osteolysis
HP:0009170-Osteolytic defects of the middle phalanx of the 5th finger HP:0002797-Osteolysis
HP:0009584-Osteolytic defects of the proximal phalanx of the 2nd finger HP:0002797-Osteolysis
HP:0009453-Osteolytic defects of the proximal phalanx of the 3rd finger HP:0002797-Osteolysis
HP:0009312-Osteolytic defects of the proximal phalanx of the 4th finger HP:0002797-Osteolysis
HP:0009232-Symphalangism affecting the proximal phalanx of the 5th finger HP:0001159-Syndactyly
HP:0009230-Osteolytic defects of the proximal phalanx of the 5th finger HP:0002797-Osteolysis
HP:0009635-Symphalangism affecting the proximal phalanx of the thumb HP:0001159-Syndactyly
HP:0009654-Osteolytic defects of the phalanges of the thumb HP:0002797-Osteolysis
HP:0010209-Symphalangism affecting the proximal phalanges of the toes HP:0001159-Syndactyly
HP:0009178-Symphalangism affecting the middle phalanx of the 5th finger HP:0001159-Syndactyly
HP:0009244-Symphalangism affecting the distal phalanx of the 5th finger HP:0001159-Syndactyly
HP:0009305-Symphalangism affecting the distal phalanx of the 4th finger HP:0001159-Syndactyly
HP:0009308-Symphalangism affecting the middle phalanx of the 4th finger HP:0001159-Syndactyly
HP:0009314-Symphalangism affecting the proximal phalanx of the 4th finger HP:0001159-Syndactyly
HP:0009426-Symphalangism affecting the distal phalanx of the 3rd finger HP:0001159-Syndactyly
HP:0009435-Symphalangism affecting the middle phalanx of the 3rd finger HP:0001159-Syndactyly
HP:0009455-Symphalangism affecting the proximal phalanx of the 3rd finger HP:0001159-Syndactyly
HP:0009586-Symphalangism affecting the proximal phalanx of the 2nd finger HP:0001159-Syndactyly
HP:0009563-Symphalangism affecting the distal phalanx of the 2nd finger HP:0001159-Syndactyly
HP:0009574-Symphalangism affecting the middle phalanx of the 2nd finger HP:0001159-Syndactyly
HP:0009647-Symphalangism affecting the distal phalanx of the thumb HP:0001159-Syndactyly
HP:0010030-Osteolytic defects of the 1st metacarpal HP:0002797-Osteolysis
HP:0009633-Osteolytic defects of the proximal phalanx of the thumb HP:0002797-Osteolysis
HP:0009703-Synostosis involving the 1st metacarpal HP:0001159-Syndactyly
HP:0010073-Symphalangism affecting the 1st metatarsal HP:0001159-Syndactyly
HP:0010071-Osteolytic defects of the 1st metatarsal HP:0002797-Osteolysis
HP:0010082-Symphalangism affecting the distal phalanx of the hallux HP:0001159-Syndactyly
HP:0010080-Osteolytic defects of the distal phalanx of the hallux HP:0002797-Osteolysis
HP:0010200-Symphalangism affecting the middle phalanges of the toes HP:0001159-Syndactyly
HP:0010198-Osteolytic defects of the middle phalanges of the toes HP:0002797-Osteolysis
HP:0010091-Symphalangism affecting the proximal phalanx of the hallux HP:0001159-Syndactyly
HP:0010089-Osteolytic defects of the proximal phalanx of the hallux HP:0002797-Osteolysis
HP:0010179-Symphalangism affecting the phalanges of the toes HP:0001159-Syndactyly
HP:0010177-Osteolytic defects of the phalanges of the toes HP:0002797-Osteolysis
HP:0010207-Osteolytic defects of the proximal phalanges of the toes HP:0002797-Osteolysis
HP:0010191-Symphalangism affecting the distal phalanges of the toes HP:0001159-Syndactyly
HP:0010189-Osteolytic defects of the distal phalanges of the toes HP:0002797-Osteolysis
HP:0010353-Symphalangism affecting the phalanges of the 2nd toe HP:0001159-Syndactyly
HP:0010365-Symphalangism affecting the phalanges of the 3rd toe HP:0001159-Syndactyly
HP:0010377-Symphalangism affecting the phalanges of the 4th toe HP:0001159-Syndactyly
HP:0010389-Symphalangism affecting the phalanges of the 5th toe HP:0001159-Syndactyly
HP:0010401-Symphalangism affecting the proximal phalanx of the 2nd toe HP:0001159-Syndactyly
HP:0010399-Osteolytic defects of the proximal phalanx of the 2nd toe HP:0002797-Osteolysis
HP:0010410-Symphalangism affecting the middle phalanx of the 2nd toe HP:0001159-Syndactyly
HP:0010408-Osteolytic defects of the middle phalanx of the 2nd toe HP:0002797-Osteolysis
HP:0010419-Symphalangism affecting the distal phalanx of the 2nd toe HP:0001159-Syndactyly
HP:0010417-Osteolytic defects of the distal phalanx of the 2nd toe HP:0002797-Osteolysis
HP:0010351-Osteolytic defects of the phalanges of the 2nd toe HP:0002797-Osteolysis
HP:0010363-Osteolytic defects of the phalanges of the 3rd toe HP:0002797-Osteolysis
HP:0010339-Joint contractures of the 4th toe HP:0001372-Joint contractures
HP:0010375-Osteolytic defects of the phalanges of the 4th toe HP:0002797-Osteolysis
HP:0010387-Osteolytic defects of the phalanges of the 5th toe HP:0002797-Osteolysis
HP:0009443-Osteolytic defects of the phalanges of the 3rd finger HP:0002797-Osteolysis
HP:0009550-Osteolytic defects of the phalanges of the 2nd finger HP:0002797-Osteolysis
HP:0005879-Congenital finger flexion contractures HP:0002803-Congenital contractures
HP:0005745-Congenital foot contractures HP:0002803-Congenital contractures
HP:0009624-Contractures of the carpometacarpal joint of the thumb HP:0001371-Contractures
HP:0009625-Contractures of the metacarpophalangeal joint of the thumb HP:0001371-Contractures
HP:0009626-Contractures of the interphalangeal joint of the thumb HP:0001371-Contractures
HP:0010327-Joint contractures of the 2nd toe HP:0001372-Joint contractures
HP:0009473-Joint contractures involving the joints of the hand HP:0001371-Contractures
HP:0006173-Contractures of the hands, mild HP:0006096-Contractures of the hands
HP:0008366-Contractures involving the joints of the feet HP:0001371-Contractures
HP:0009699-Osteolytic defects of the hand bones HP:0002797-Osteolysis
HP:0004286-Patchy sclerosis of hand bones HP:0004054-Sclerosis of hand bones
HP:0000511-Vertical supranuclear gaze palsy HP:0000605-Supranuclear gaze palsy
HP:0000559-Corneal scarring HP:0000987-Scarring
HP:0000658-Eyelid apraxia HP:0002186-Apraxia
HP:0000794-IgA nephropathy HP:0000112-Nephropathy
HP:0000839-Pituitary dwarfism HP:0001516-Dwarfism
HP:0001220-Interphalangeal joint contractures HP:0001371-Contractures
HP:0001239-Wrist contractures HP:0001371-Contractures
HP:0001308-Tongue fasciculations HP:0002380-Fasciculations
HP:0001504-Metacarpal osteolysis HP:0002797-Osteolysis
HP:0000374-Sensorineural deafness HP:0000404-Deafness
HP:0001771-Achilles tendon contractures HP:0001371-Contractures
HP:0001860-Toe contractures HP:0001371-Contractures
HP:0001864-Fifth toe clinodactyly HP:0001157-Clinodactyly
HP:0004702-variable shortening 4th-5th metatarsals HP:0004704-short 4th and 5th metatarsals
HP:0002509-Limb hypertonia HP:0001276-Hypertonia
HP:0002978-Knee contractures HP:0001371-Contractures
HP:0002987-Elbow contractures HP:0001371-Contractures
HP:0003287-Abnormality of mitochondrial metabolism HP:0001427-Mitochondrial inheritance
HP:0004281-Irregular sclerosis of hand bones HP:0004054-Sclerosis of hand bones
HP:0004043-Lytic defects of ulnar metaphysis HP:0002797-Osteolysis
HP:0007376-Abnormality of the choroid plexus HP:0000610-Abnormality of the choroid
HP:0005031-Achilles tendon contractures, mild HP:0001371-Contractures
HP:0004712-Malrotation of the kidney HP:0002566-Intestinal malrotation
HP:0004719-enlarged, hyperechogenic kidneys HP:0002566-Intestinal malrotation
HP:0004788-intestinal lymphedema HP:0001004-Lymphedema
HP:0004953-Abdominal aortic aneurysm HP:0004942-Aortic aneurysms
HP:0004985-knee and ankle contractures HP:0001371-Contractures
HP:0009645-Osteolytic defects of the distal phalanx of the thumb HP:0002797-Osteolysis
HP:0005954-Pulmonary capillary hemangiomatosis HP:0007461-Hemangiomatosis
HP:0006137-Finger and wrist contractures HP:0001371-Contractures
HP:0006233-Osteoarthritis of the distal interphalangeal joint HP:0002758-Osteoarthritis
HP:0006466-Contractures of the ankles HP:0001371-Contractures
HP:0006463-Rickets of the lower limbs HP:0002748-Rickets
HP:0006612-Clavicle pseudoarthrosis HP:0005864-Pseudoarthrosis
HP:0006895-Lower limb hypertonia HP:0001276-Hypertonia
HP:0007521-Irregular hyperpigmentation of back HP:0007400-Irregular hyperpigmentation
HP:0007936-Restrictive external ophthalmoplegia HP:0007846-Restrictive ophthalmoplegia
HP:0006999-Cell loss and gliosis in the basal ganglia HP:0002171-Gliosis
HP:0008044-Extraocular muscle paralysis HP:0003470-Paralysis
HP:0008047-Abnormality of the vasculature of the eye HP:0002597-Abnormality of the vasculature
HP:0008054-Abnormality of the vasculature of the conjunctiva HP:0002597-Abnormality of the vasculature
HP:0008213-Pituitary gonadotropin deficiency HP:0008192-Gonadotropin deficiency
HP:0008367-Contractures involving the toes HP:0001371-Contractures
HP:0008451-Posterior vertebral hypoplasia HP:0008417-Vertebral hypoplasia
HP:0009024-Calf muscle hypertrophy HP:0003712-Muscle hypertrophy
HP:0008962-Hypoplastic calf muscles HP:0009004-Muscle hypoplasia
HP:0009099-Median cleft palate HP:0000175-Cleft palate
HP:0000631-Retinal arterial tortuosity HP:0005116-Arterial tortuosity
HP:0000665-Lens dislocation HP:0001373-Joint dislocation
HP:0000996-Facial capillary hemangioma HP:0000329-Facial hemangioma
HP:0001091-Central visual loss HP:0000572-Visual loss
HP:0001138-Optic neuropathy HP:0003407-Neuropathy
HP:0001858-Tarsal osteolysis HP:0002797-Osteolysis
HP:0006234-Osteolysis involving tarsal bones HP:0002797-Osteolysis
HP:0009139-Osteolysis involving bones of the lower limbs HP:0002797-Osteolysis
HP:0009134-Osteolysis involving bones of the feet HP:0002797-Osteolysis
HP:0001842-Acroosteolysis (feet) HP:0002797-Osteolysis
HP:0001473-Osteolysis involving metatarsal bones HP:0002797-Osteolysis
HP:0003042-Elbow dislocation HP:0001373-Joint dislocation
HP:0003049-Ulnar deviation of the wrist HP:0001193-Ulnar deviation of the hand or of fingers of the hand
HP:0003477-Axonal neuropathy HP:0003407-Neuropathy
HP:0003737-Mitochondrial myopathy HP:0003198-Myopathy
HP:0003940-Osteoarthritis of the elbow HP:0002758-Osteoarthritis
HP:0004196-Short phalanges of the ring finger HP:0009803-Hypoplastic/small phalanges of the hand
HP:0004197-Symphalangism of the 4th finger HP:0001159-Syndactyly
HP:0004213-Abnormality of the phalanges of the 5th finger HP:0005918-Abnormality of the phalanges of the hand
HP:0000222-Gingival hyperkeratosis HP:0000962-Hyperkeratosis
HP:0000297-Facial hypotonia HP:0001252-Muscular hypotonia
HP:0000317-Facial myokymia HP:0002411-Myokymia
HP:0000329-Facial hemangioma HP:0001028-Hemangiomas
HP:0001116-Macular coloboma HP:0000589-Coloboma
HP:0002219-Facial hypertrichosis HP:0000998-Hypertrichosis
HP:0002480-Hepatic encephalopathy HP:0001298-Encephalopathy
HP:0002625-Deep venous thrombosis HP:0004936-Venous thrombosis
HP:0002936-Distal sensory impairment HP:0003474-Sensory impairment
HP:0003497-Distal limb muscle weakness HP:0002460-Distal muscle weakness
HP:0003849-Flared metaphyses of the upper limbs HP:0000945-Flared irregular metaphyses
HP:0003850-Irregular metaphyses of the upper limbs HP:0003025-Irregular metaphyses
HP:0005190-Proximal finger joint hyperextensibility HP:0006158-Finger joint hyperextensibility
HP:0005337-Shallow orbital ridges HP:0000586-Shallow orbits
HP:0005824-Clinodactyly of second toes HP:0001157-Clinodactyly
HP:0005996-Redundant skin folds of neck HP:0007391-Redundant skin folds
HP:0006029-Small, irregular carpal bones HP:0006072-Small, irregular carpals
HP:0006096-Contractures of the hands HP:0001371-Contractures
HP:0006202-Osteolysis of scaphoids HP:0002797-Osteolysis
HP:0006931-Lipoma of corpus callosum HP:0001012-Lipomas
HP:0007345-Distal sensory and motor axonal neuropathy HP:0007002-Sensory and motor axonal neuropathy
HP:0008128-Flexion contractures of the toes HP:0001371-Contractures
HP:0008672-Calcium oxalate nephrolithiasis HP:0008725-Oxalate nephrolithiasis
HP:0002541-Knee and ankle clonus HP:0002169-Clonus
HP:0002943-Thoracic scoliosis HP:0002650-Scoliosis
HP:0004218-Symphalangism of the 5th finger HP:0001159-Syndactyly
HP:0004687-hallucal symphalangism HP:0001159-Syndactyly
HP:0010064-Symphalangism affecting the phalanges of the hallux HP:0001159-Syndactyly
HP:0010062-Osteolytic defects of the phalanges of the hallux HP:0002797-Osteolysis
HP:0004756-Ventricular tachycardia HP:0001649-Tachycardia
HP:0005659-Thoracic kyphoscoliosis HP:0002751-Kyphoscoliosis
HP:0006378-Osteolysis of patellae HP:0002797-Osteolysis
HP:0004195-Osteolytic defects of the phalanges of the 4th finger HP:0002797-Osteolysis
HP:0009183-Joint contractures of the 5th finger HP:0001372-Joint contractures
HP:0004216-Osteolytic defects of the phalanges of the 5th finger HP:0002797-Osteolysis
HP:0009237-Hypoplastic/small 5th finger HP:0009803-Hypoplastic/small phalanges of the hand
HP:0009274-Joint contractures of the 4th finger HP:0001372-Joint contractures
HP:0009316-Abnormality of the phalanges of the 3rd finger HP:0005918-Abnormality of the phalanges of the hand
HP:0009319-Joint contractures of the 3rd finger HP:0001372-Joint contractures
HP:0009417-Pseudoepiphyses of the 3rd finger HP:0010584-Pseudoepiphyses
HP:0010156-Pseudoepiphysis of the 1st metatarsal HP:0010584-Pseudoepiphyses
HP:0010120-Pseudoepiphyses of the hallux HP:0010584-Pseudoepiphyses
HP:0009693-Pseudoepiphyses of the thumb HP:0010584-Pseudoepiphyses
HP:0009671-Pseudoepiphysis of the proximal phalanx of the thumb HP:0010584-Pseudoepiphyses
HP:0009400-Pseudoepiphyses of the 4th finger HP:0010584-Pseudoepiphyses
HP:0009440-Broad phalanges of the 3rd finger HP:0001246-Broad phalanges
HP:0009445-Symphalangism of the 3rd finger HP:0001159-Syndactyly
HP:0010563-Camptodactyly (hands) HP:0001372-Joint contractures
HP:0009537-Joint contractures of the 2nd finger HP:0001372-Joint contractures
HP:0009541-Abnormality of the phalanges of the 2nd finger HP:0005918-Abnormality of the phalanges of the hand
HP:0009545-Symphalangism of the 2nd finger HP:0001159-Syndactyly
HP:0009547-Broad phalanges of the 2nd finger HP:0001246-Broad phalanges
HP:0009600-Joint contractures of the thumb HP:0001372-Joint contractures
HP:0009602-Abnormality of the phalanges of the thumb HP:0005918-Abnormality of the phalanges of the hand
HP:0009656-Symphalangism of the thumb HP:0001159-Syndactyly
HP:0010345-Joint contractures of the 5th toe HP:0001372-Joint contractures
HP:0009736-Tibial pseudoarthrosis HP:0005864-Pseudoarthrosis
HP:0009904-Prominent ear helix HP:0000412-Prominent ears

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/15

term request (cyanotic episode, as part of: cyanosis)

cyanotic episodes

Reported by: svanvoor

Original Ticket: obo/human-phenotype-requests/39

vertical clivus

need new term as child of 'abnormality of the skull'

Reported by: mellybelly

Original Ticket: obo/human-phenotype-requests/8

MP-HP inversions

there are 12 inversions between HP and MP, based on synonym matching. Consider either changing synonyms or the isa hierarchy

Cols:

A
B
XA
XB

Criteria:

A has best match by synonyms to XA
B has best match by synonyms to XB
A SubClassOf B
XA HasSubClass XB

HP:0001682-Subaortic stenosis HP:0001650-Aortic stenosis MP:0010448-heart left ventricle outflow tract stenosis MP:0006117-aortic valve stenosis
HP:0002414-Spina bifida HP:0010301-Spinal dysraphism MP:0000929-open neural tube MP:0003054-spina bifida
HP:0002634-Arteriosclerosis HP:0002621-Atherosclerosis MP:0003991-arteriosclerosis MP:0005338-atherosclerotic lesions
HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level
HP:0003468-Abnormality of the vertebrae HP:0000925-Abnormality of the vertebral column MP:0000137-abnormal vertebrae morphology MP:0000141-abnormal vertebral body morphology
HP:0004398-Peptic ulcer HP:0002592-Gastric ulcer MP:0003301-peptic ulcer MP:0003282-gastric ulcer
MP:0000141-abnormal vertebral body morphology MP:0000137-abnormal vertebrae morphology HP:0000925-Abnormality of the vertebral column HP:0003468-Abnormality of the vertebrae
MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA
MP:0003054-spina bifida MP:0000929-open neural tube HP:0010301-Spinal dysraphism HP:0002414-Spina bifida
MP:0003282-gastric ulcer MP:0003301-peptic ulcer HP:0002592-Gastric ulcer HP:0004398-Peptic ulcer
MP:0005338-atherosclerotic lesions MP:0003991-arteriosclerosis HP:0002621-Atherosclerosis HP:0002634-Arteriosclerosis
MP:0006117-aortic valve stenosis MP:0010448-heart left ventricle outflow tract stenosis HP:0001650-Aortic stenosis HP:0001682-Subaortic stenosis

Here is the full report showing the nornalized synonym label that is matched:

x HP:0001682-Subaortic stenosis HP:0001650-Aortic stenosis MP:0010448-heart left ventricle outflow tract stenosis MP:0006117-aortic valve stenosis stenosisubaort abnormaorticstenosivalv
x HP:0001682-Subaortic stenosis HP:0001650-Aortic stenosis MP:0010448-heart left ventricle outflow tract stenosis MP:0006117-aortic valve stenosis stenosisubaort aorticstenosi
x HP:0001682-Subaortic stenosis HP:0001650-Aortic stenosis MP:0010448-heart left ventricle outflow tract stenosis MP:0006117-aortic valve stenosis stenosisubaort aorticstenosivalv
x HP:0002414-Spina bifida HP:0010301-Spinal dysraphism MP:0000929-open neural tube MP:0003054-spina bifida bifidadefectneuralspinatube dysraphspinal
x HP:0002414-Spina bifida HP:0010301-Spinal dysraphism MP:0000929-open neural tube MP:0003054-spina bifida bifidaspina dysraphspinal
x HP:0002634-Arteriosclerosis HP:0002621-Atherosclerosis MP:0003991-arteriosclerosis MP:0005338-atherosclerotic lesions abnormarteriosclerosivasculatur atherosclerosi
x HP:0002634-Arteriosclerosis HP:0002621-Atherosclerosis MP:0003991-arteriosclerosis MP:0005338-atherosclerotic lesions arteriosclerosi atherosclerosi
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulin abnormconcentrhypogammaglobulinemiaimmunoglobulin
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulin abnormconcentrhypogammaglobulinemiaimmunoglobulinserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulin abnormhypogammaglobulinemiaimmunoglobulinlevel
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulin abnormhypogammaglobulinemiaimmunoglobulinlevelserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulin hypogammaglobulinemia
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulinserum abnormconcentrhypogammaglobulinemiaimmunoglobulin
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulinserum abnormconcentrhypogammaglobulinemiaimmunoglobulinserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulinserum abnormhypogammaglobulinemiaimmunoglobulinlevel
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulinserum abnormhypogammaglobulinemiaimmunoglobulinlevelserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormconcentrdecreasimmunoglobulinserum hypogammaglobulinemia
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevel abnormconcentrhypogammaglobulinemiaimmunoglobulin
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevel abnormconcentrhypogammaglobulinemiaimmunoglobulinserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevel abnormhypogammaglobulinemiaimmunoglobulinlevel
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevel abnormhypogammaglobulinemiaimmunoglobulinlevelserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevel hypogammaglobulinemia
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevelserum abnormconcentrhypogammaglobulinemiaimmunoglobulin
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevelserum abnormconcentrhypogammaglobulinemiaimmunoglobulinserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevelserum abnormhypogammaglobulinemiaimmunoglobulinlevel
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevelserum abnormhypogammaglobulinemiaimmunoglobulinlevelserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level abnormdecreasimmunoglobulinlevelserum hypogammaglobulinemia
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level decreasimmunoglobulinlevel abnormconcentrhypogammaglobulinemiaimmunoglobulin
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level decreasimmunoglobulinlevel abnormconcentrhypogammaglobulinemiaimmunoglobulinserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level decreasimmunoglobulinlevel abnormhypogammaglobulinemiaimmunoglobulinlevel
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level decreasimmunoglobulinlevel abnormhypogammaglobulinemiaimmunoglobulinlevelserum
x HP:0002720-Decreased IgA HP:0004313-Hypogammaglobulinemia MP:0002460-decreased immunoglobulin level MP:0001805-decreased IgG level decreasimmunoglobulinlevel hypogammaglobulinemia
x HP:0003468-Abnormality of the vertebrae HP:0000925-Abnormality of the vertebral column MP:0000137-abnormal vertebrae morphology MP:0000141-abnormal vertebral body morphology abnormcolumnvertebrvertebra abnormbodivertebr
x HP:0003468-Abnormality of the vertebrae HP:0000925-Abnormality of the vertebral column MP:0000137-abnormal vertebrae morphology MP:0000141-abnormal vertebral body morphology abnormvertebra abnormbodivertebr
x HP:0004398-Peptic ulcer HP:0002592-Gastric ulcer MP:0003301-peptic ulcer MP:0003282-gastric ulcer pepticulcer abnormgastricstomachulcer
x HP:0004398-Peptic ulcer HP:0002592-Gastric ulcer MP:0003301-peptic ulcer MP:0003282-gastric ulcer pepticulcer gastriculcer
x MP:0000141-abnormal vertebral body morphology MP:0000137-abnormal vertebrae morphology HP:0000925-Abnormality of the vertebral column HP:0003468-Abnormality of the vertebrae abnormbodivertebr abnormcolumnvertebrvertebra
x MP:0000141-abnormal vertebral body morphology MP:0000137-abnormal vertebrae morphology HP:0000925-Abnormality of the vertebral column HP:0003468-Abnormality of the vertebrae abnormbodivertebr abnormvertebra
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulin abnormconcentrdecreasimmunoglobulin
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulin abnormconcentrdecreasimmunoglobulinserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulin abnormdecreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulin abnormdecreasimmunoglobulinlevelserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulin decreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulinserum abnormconcentrdecreasimmunoglobulin
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulinserum abnormconcentrdecreasimmunoglobulinserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulinserum abnormdecreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulinserum abnormdecreasimmunoglobulinlevelserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormconcentrhypogammaglobulinemiaimmunoglobulinserum decreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevel abnormconcentrdecreasimmunoglobulin
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevel abnormconcentrdecreasimmunoglobulinserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevel abnormdecreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevel abnormdecreasimmunoglobulinlevelserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevel decreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevelserum abnormconcentrdecreasimmunoglobulin
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevelserum abnormconcentrdecreasimmunoglobulinserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevelserum abnormdecreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevelserum abnormdecreasimmunoglobulinlevelserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA abnormhypogammaglobulinemiaimmunoglobulinlevelserum decreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA hypogammaglobulinemia abnormconcentrdecreasimmunoglobulin
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA hypogammaglobulinemia abnormconcentrdecreasimmunoglobulinserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA hypogammaglobulinemia abnormdecreasimmunoglobulinlevel
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA hypogammaglobulinemia abnormdecreasimmunoglobulinlevelserum
x MP:0001805-decreased IgG level MP:0002460-decreased immunoglobulin level HP:0004313-Hypogammaglobulinemia HP:0002720-Decreased IgA hypogammaglobulinemia decreasimmunoglobulinlevel
x MP:0003054-spina bifida MP:0000929-open neural tube HP:0010301-Spinal dysraphism HP:0002414-Spina bifida dysraphspinal bifidadefectneuralspinatube
x MP:0003054-spina bifida MP:0000929-open neural tube HP:0010301-Spinal dysraphism HP:0002414-Spina bifida dysraphspinal bifidaspina
x MP:0003282-gastric ulcer MP:0003301-peptic ulcer HP:0002592-Gastric ulcer HP:0004398-Peptic ulcer abnormgastricstomachulcer pepticulcer
x MP:0003282-gastric ulcer MP:0003301-peptic ulcer HP:0002592-Gastric ulcer HP:0004398-Peptic ulcer gastriculcer pepticulcer
x MP:0005338-atherosclerotic lesions MP:0003991-arteriosclerosis HP:0002621-Atherosclerosis HP:0002634-Arteriosclerosis atherosclerosi abnormarteriosclerosivasculatur
x MP:0005338-atherosclerotic lesions MP:0003991-arteriosclerosis HP:0002621-Atherosclerosis HP:0002634-Arteriosclerosis atherosclerosi arteriosclerosi
x MP:0006117-aortic valve stenosis MP:0010448-heart left ventricle outflow tract stenosis HP:0001650-Aortic stenosis HP:0001682-Subaortic stenosis abnormaorticstenosivalv stenosisubaort
x MP:0006117-aortic valve stenosis MP:0010448-heart left ventricle outflow tract stenosis HP:0001650-Aortic stenosis HP:0001682-Subaortic stenosis aorticstenosi stenosisubaort
x MP:0006117-aortic valve stenosis MP:0010448-heart left ventricle outflow tract stenosis HP:0001650-Aortic stenosis HP:0001682-Subaortic stenosis aorticstenosivalv stenosisubaort

Reported by: *anonymous

Original Ticket: obo/human-phenotype-requests/47

add def for HP:0000482 ! Microcornea

currently undefined.

googling suggests "abnormally thin and flat cornea"

currently we have:

. is_a HP:0001120 ! Abnormality of corneal size or shape
.. is_a HP:0000482 ! Microcornea ***

What do you think of adding

. is_a HP:0001120 ! Abnormality of corneal size or shape
.. is_a HP:new ! Abnormality of corneal size
... is_a HP:new ! small corneal size
.... is_a HP:0000482 ! Microcornea ***
.. is_a HP:new ! Abnormality of corneal shape
... is_a HP:new ! flat cornea
.... is_a HP:0000482 ! Microcornea ***

note:

don't close this tracker item until HP-XP is fixed

currently we have

[Term]
id: HP:0000482 ! microcornea
intersection_of: PATO:0000587 ! decreased size
intersection_of: inheres_in FMA:58238 ! cornea

this is wrong!

easier to define when we have the correct endophenotypes

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/10

syns: HP:0005978 ! Noninsulin-dependent diabetes mellitus

should this not have as synonym (or even primary label) type II diabetes?

also adult DM

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/32

use of term "especially"

can these be obsoleted or replaced by more precise terms?

HP:0001079 ! Telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips)
HP:0002114 ! Pulmonary arteriovenous malformation (PAVM), especially lower lobes
HP:0004597 ! congenital spinal stenosis due to short pedicles, especially lumbar
HP:0005048 ! fusion of carpal bones, especially capitate and hamate
HP:0005071 ! Dumbbell widening of long bone metaphyses, especially femurs and humeri
HP:0005087 ! Bowing of long bones, especially lower limb
HP:0005391 ! Increased susceptibility to certain bacterial infections, especially neisseria meningitidis
HP:0005869 ! Osteomyelitis, especially of the mandible
HP:0006076 ! Short, broad distal phalanges, especially thumbs
HP:0006414 ! Tibial bowing, especially at ankle
HP:0006534 ! Emphysema especially at bases
HP:0006835 ! Cerebral cortical atrophy, especially frontal lobes
HP:0007171 ! Neurogenic muscle atrophy, especially in the lower limbs
HP:0007444 ! Hemangiomata, especially thorax and upper abdomen
HP:0008958 ! Distal amyotrophy, especially of the hands and feet

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/18

duplicate xp defs

results of:
obo-check-xps.pl human-phenotype-ontology_xp.obo

also includes unreferenced anon classes, which should be removed

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/20

findings

HP:0010809 ! Broad uvula [DEF: "Increased width of the uvula (FMA:55022) (subjective finding)."]
HP:0010810 ! Long uvula [DEF: "Increased length of the uvula (FMA:55022)."]

why is broad uvula a subjective finding, and long uvula is not?

Can we get rid of this qualifier?

also, the following make use of the string 'finding' in the synonym, name or def. Can we get rid of this string and have HPO be an ontology of phenotypes that exist in reality independent of findings?

HP:0002921 ! Abnormal CSF findings
HP:0003114 ! Abnormal cardiological findings
HP:0003117 ! Abnormal endocrinological laboratory findings
HP:0003129 ! Abnormal neurological laboratory findings
HP:0003135 ! Abnormal hematological laboratory findings
HP:0003340 ! Abnormal dermatological laboratory findings
HP:0003346 ! Abnormal immunological laboratory finding
HP:0003355 ! Aminoaciduria
HP:0003380 ! Decreased number of myelinated fibers
HP:0003445 ! EMG: neuropathic changes
HP:0003555 ! Muscle fiber splitting
HP:0004234 ! Bone-in-a-bone appearance of carpal bones
HP:0007359 ! Partial seizures
HP:0008127 ! Bipartite calcaneus
HP:0009704 ! Chronic CSF lymphocytosis
HP:0009780 ! Iliac horns
HP:0010512 ! Adrenal calcification
HP:0010809 ! Broad uvula

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/33

term request (chondritis of pinna)

chondritis of pinna, or auricular inflammation - where to map?

Reported by: svanvoor

Original Ticket: obo/human-phenotype-requests/36

term request

i would like to have the term:
auricular deformities

or is there already a synonym for that in the HPO?

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/27

HP:0004012 ! Fused radial epiphyseal plates - text def req'd

We'd like to define this in HP-XP, but we need a text definition to check it against.

As a first attempt at a logic def:

[Term]
id: HP:0004012 ! Fused radial epiphyseal plates
intersection_of: PATO:0000642 ! fused with
intersection_of: OBO_REL:inheres_in FMA:33770 ! Epiphysis of radius

But this is problematic on a number of levels:

* fused with what?

* is epiphysis and epiphyseal plate synonymous? FMA, MA and Wikipedia all don't think so.

So maybe this is better:

[Term]
id: HP:0004012 ! Fused radial epiphyseal plates
intersection_of: PATO:0000642 ! fused with
intersection_of: OBO_REL:inheres_in FMA:34354 ! Epiphyseal plate of radius

unfortunately there is no link between Epiphyseal plate and epiphysis in FMA, so we can't recapitulate the HP hierarchy from HP-XP and FMA...

http://www.berkeleybop.org/obo/HP:0004012

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/11

Hypoplastic scapulae

HP is inverted w.r.t MP:

is_a HP:0000882 ! Hypoplastic scapulae ***

•     is_a HP:0000906 ! Short scapulae *** 
  

is_a MP:0004343 ! small scapula ***

•    is_a MP:0004344 ! scapular bone hypoplasia *** 
  

MP is correct

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/19

are these synonyms

are these synonyms?
branchial (cyst/fistula/sinus) == lateral cervical (cyst/fistula/sinus)

Reported by: drseb

Original Ticket: obo/human-phenotype-requests/28

Definition for HP:0008251 Congenital goiter

If goiter is defined as follows:
[Term]
id: HP:0000853 ! Goiter
intersection_of: PATO:0000586 ! increased size
intersection_of: inheres_in FMA:9603 ! thyroid gland
how should "congenital goiter" be defined? Should we use terms from the onset subontology of the HPO?

Reported by: *anonymous

Original Ticket: obo/human-phenotype-requests/35

term request (dizziness)

dizziness

Reported by: svanvoor

Original Ticket: obo/human-phenotype-requests/41

error: Senile plaques is_a Alzheimer disease

....is_a HP:0002011 ! Abnormality of the central nervous system [DEF: "An abnormality of the central nervous system (FMA:55675)."]
.....is_a HP:0002511 ! Alzheimer disease ***
......is_a HP:0007213 ! Late-onset form of familial Alzheimer disease
......is_a HP:0100256 ! Senile plaques [DEF: "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain."]

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/21

Incorrect definition of HP:0000841 ! Hyperactive renin-angio

The following definition is incorrect, because the PATO term PATO:0000760 refers to "increased behavioural activity" (synonym "hyperactive"), which is a different use of the word "hyperactive". Please consider whether "hyperactive" should be deleted as a synonym for "increased behavioural activity" and change the following definition.

[Term]
id: HP:0000841 ! Hyperactive renin-angiotensin system
intersection_of: PATO:0000760 ! hyperactive
intersection_of: inheres_in FMA:74787 ! Renin-angiotensin system

Reported by: *anonymous

Original Ticket: obo/human-phenotype-requests/34

cortical irregularity

+/ HP:0000001 ! All
++is_a HP:0000118 ! Organ abnormality [DEF: "An abnormality which occurs in any one or more organ or organ-system of the body."]
+++is_a HP:0000924 ! Abnormality of the musculoskeletal system [DEF: "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue."]
++++is_a HP:0002813 ! Abnormality of the extremities [DEF: "Any abnormality of the arms or legs."]
+++++is_a HP:0002817 ! Abnormality of the upper limbs
++++++is_a HP:0001454 ! Abnormality of the upper arm
+++++++is_a HP:0003063 ! Abnormality of the humerus [DEF: "An abnormality of the humerus (i.e., upper arm bone)."]
++++++++is_a HP:0010629 ! Abnormality of the cortex of the humerus [DEF: "Any abnormality affecting the cortex of the humerus."]
+++++++++is_a HP:0003867 ! Cortical irregularity (humeral) ***
++++is_a HP:0003103 ! Abnormality of cortical bone [DEF: "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones."]
+++++is_a HP:0005731 ! Cortical irregularity *** [DEF: "An abnormal irregularity of cortical bone."]

should HP:0003867 be added as a subtype of HP:0005731 ?

Can "iiregularity" be defined e.g. in PATO

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/13

HP:0003280 \"Coxa plana\" has no definition.

HP:0003280 "Coxa plana" has no definition.

Reported by: pnrobinson

Original Ticket: obo/human-phenotype-requests/43

osteolysis / osteolytic defects

HP has:

HP:0002797 ! Osteolysis ***
HP:0004348 ! Abnormality of bone mineral density
--------HP:0010737 ! Osteolytic defects of bones ***

ie there is no relation between osteolytic defects of bones and osteolysis - this seems wrong.

also, can you add a definition for osteolysis?

this definition isn't much use:

HP:0010737 ! Osteolytic defects of bones *** [DEF: "Osteolytic defects affecting the bones."]

The genus isn't defined anywhere.

Also, are there non-bone osteolytic defects?

Reported by: cmungall

Original Ticket: obo/human-phenotype-requests/30

Ectopic thyroid

Can this be defined using mislocalised (PATO:0000628) thyroid gland (FMA:9603)? I mean, is this abnormality an abnormality of the canonical thyroid gland as referred to by FMA:9603?

Reported by: pnrobinson

Original Ticket: obo/human-phenotype-requests/46

term request (cystic fibrosis)

cystic fibrosis

Reported by: svanvoor

Original Ticket: obo/human-phenotype-requests/40