Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Parent Node:
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Abnormal 5th finger phalanx morphology (HP:0004213)help
Parent Node:
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Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)help
..Starting node
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Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)help
Term ID: 9376
Name: Aplasia/Hypoplasia of the phalanges of the 5th finger
Synonym: Absent/small little finger bones; Absent/small pinkie finger bones; Absent/small pinky finger bones; Absent/underdeveloped pinky finger bones
Definition: Aplasia/Hypoplasia of the phalanges of the 5th finger.
Comments:
Reference: HP:0009376
Genes and Diseases:
 
       Child Nodes:
........expandAplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161) help
................... HP:0004220 Short middle phalanx of the 5th finger
................... HP:0009162 Absent middle phalanx of 5th finger
........expandAplasia/Hypoplasia of the proximal phalanx of the 5th finger (HP:0009192) help
................... HP:0009225 Aplasia of the proximal phalanx of the 5th finger
................... HP:0009226 Short proximal phalanx of the 5th finger
........expandAplasia/Hypoplasia of the distal phalanx of the 5th finger (HP:0009239) help
................... HP:0004227 Short distal phalanx of the 5th finger
................... HP:0009246 Aplasia of the distal phalanx of the 5th finger

 Sister Nodes: 
..expandAphalangy of the hands (HP:0005886) help
..expandAplasia of the phalanges of the hand (HP:0009802) help
..expandAplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835) help
..expandAplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843) help
..expandAplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552) help
..expandAplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447) help
..expandAplasia/Hypoplasia of the phalanges of the 4th finger (HP:0009408) help
..expandAplasia/Hypoplasia of the phalanges of the thumb (HP:0009658) help
..expandAplasia/Hypoplasia of the proximal phalanges of the hand (HP:0009851) help
..expandShort phalanx of finger (HP:0009803) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction4
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GJA1 CL E G H26974274OMIM:186100Syndactyly, type III68
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0HNRNPR CL E G H102365047OMIM:620073
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009376HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009376HP:0009239Aplasia/Hypoplasia of the distal phalanx of the 5th finger1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1BHLHA9 CL E G H72785735126OMIM:609432Syndactyly, mesoaxial synostotic, with phalangeal reduction.4
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0009376HP:0009239Aplasia/Hypoplasia of the distal phalanx of the 5th finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GJA1 CL E G H26974274OMIM:186100Syndactyly, type III68
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009376HP:0009239Aplasia/Hypoplasia of the distal phalanx of the 5th finger1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0009376HP:0009239Aplasia/Hypoplasia of the distal phalanx of the 5th finger1HNRNPR CL E G H102365047OMIM:620073
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009376HP:0009239Aplasia/Hypoplasia of the distal phalanx of the 5th finger1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0009376HP:0009192Aplasia/Hypoplasia of the proximal phalanx of the 5th finger1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0009376HP:0009239Aplasia/Hypoplasia of the distal phalanx of the 5th finger1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009376HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009376HP:0009246Aplasia of the distal phalanx of the 5th finger2 CL E G H
HP:0009376HP:0009225Aplasia of the proximal phalanx of the 5th finger2 CL E G H
HP:0009376HP:0004227Short distal phalanx of the 5th finger2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0009376HP:0009162Absent middle phalanx of 5th finger2ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0009376HP:0004220Short middle phalanx of the 5th finger2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional13
HP:0009376HP:0004220Short middle phalanx of the 5th finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0009376HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional90
HP:0009376HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0009376HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0009376HP:0004227Short distal phalanx of the 5th finger2COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0009376HP:0004220Short middle phalanx of the 5th finger2DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040281 - Very frequent52
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional52
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0009376HP:0009162Absent middle phalanx of 5th finger2GJA1 CL E G H26974274OMIM:186100Syndactyly, type III.68
HP:0009376HP:0004220Short middle phalanx of the 5th finger2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009376HP:0004220Short middle phalanx of the 5th finger2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0009376HP:0004227Short distal phalanx of the 5th finger2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0009376HP:0004227Short distal phalanx of the 5th finger2HNRNPR CL E G H102365047OMIM:620073
HP:0009376HP:0004220Short middle phalanx of the 5th finger2HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0009376HP:0004220Short middle phalanx of the 5th finger2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0009376HP:0009162Absent middle phalanx of 5th finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009376HP:0004220Short middle phalanx of the 5th finger2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0009376HP:0004227Short distal phalanx of the 5th finger2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0009376HP:0009226Short proximal phalanx of the 5th finger2KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0009376HP:0004220Short middle phalanx of the 5th finger2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0009376HP:0004220Short middle phalanx of the 5th finger2NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0009376HP:0004220Short middle phalanx of the 5th finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0009376HP:0004220Short middle phalanx of the 5th finger2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0009376HP:0004220Short middle phalanx of the 5th finger2RBBP8 CL E G H59329891OMIM:251255Jawad syndrome.68
HP:0009376HP:0004220Short middle phalanx of the 5th finger2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0009376HP:0004220Short middle phalanx of the 5th finger2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0009376HP:0004220Short middle phalanx of the 5th finger2RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0009376HP:0004227Short distal phalanx of the 5th finger2SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0009376HP:0004220Short middle phalanx of the 5th finger2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0009376HP:0004220Short middle phalanx of the 5th finger2TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0009376HP:0004220Short middle phalanx of the 5th finger2WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98


Genes (28) :ARID1B ATP6V1B2 BHLHA9 BMP2 BMPR1B COL2A1 DVL1 GATA1 GDF5 GJA1 GNB2 H19-ICR HNRNPR HOXD13 IFT140 IGF2 KIF15 MYCN NIN NOG PUF60 RBBP8 ROR2 RUNX2 SMARCB1 SRCAP TFAP2B WNT5A

Diseases (32) :OMIM:135900 OMIM:124480 OMIM:609432 ORPHA:93396 OMIM:112600 OMIM:616849 OMIM:271700 OMIM:180700 OMIM:190685 ORPHA:63442 OMIM:615072 OMIM:113100 OMIM:164200 OMIM:186100 OMIM:619503 OMIM:180860 OMIM:620073 ORPHA:93409 OMIM:186000 OMIM:266920 ORPHA:261323 ORPHA:391641 ORPHA:319675 OMIM:186500 ORPHA:508488 OMIM:251255 OMIM:268310 OMIM:119600 OMIM:156510 OMIM:614608 OMIM:136140 ORPHA:46627
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.