Human Phenotype Ontology 
Grandparent Node:
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Abnormality of finger (HP:0001167)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
Parent Node:
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Abnormal 5th finger morphology (HP:0004207)help
Parent Node:
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Aplasia/Hypoplasia of fingers (HP:0006265)help
..Starting node
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Aplasia/Hypoplasia of the 5th finger (HP:0006262)help
Term ID: 6262
Name: Aplasia/Hypoplasia of the 5th finger
Synonym: Absent/small little finger; Absent/small pinkie finger; Absent/small pinky finger; Absent/underdeveloped little finger; Absent/underdeveloped pinkie finger; Absent/underdeveloped pinky finger
Definition: A small/hypoplastic or absent/aplastic 5th finger.
Comments:
Reference: HP:0006262
Genes and Diseases:
 
       Child Nodes:
........expandPartial-complete absence of 5th phalanges (HP:0006209) help
........expandShort 5th finger (HP:0009237) help
................... HP:0004220 Short middle phalanx of the 5th finger
................... HP:0004227 Short distal phalanx of the 5th finger
................... HP:0009226 Short proximal phalanx of the 5th finger
........expandAplasia of the 5th finger (HP:0009238) help
................... HP:0009162 Absent middle phalanx of 5th finger
................... HP:0009225 Aplasia of the proximal phalanx of the 5th finger
................... HP:0009246 Aplasia of the distal phalanx of the 5th finger

 Sister Nodes: 
..expandAplasia of the fingers (HP:0009380) help
..expandAplasia/Hypoplasia of the 2nd finger (HP:0006264) help
..expandAplasia/Hypoplasia of the 3rd finger (HP:0009318) help
..expandAplasia/Hypoplasia of the 4th finger (HP:0009272) help
..expandAplasia/Hypoplasia of the thumb (HP:0009601) help
..expandProportionate shortening of all digits (HP:0006165) help
..expandShort finger (HP:0009381) help
..expandSmall finger (HP:0030033) 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:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GJA1 CL E G H26974274OMIM:186100Syndactyly, type III68
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0HNRNPR CL E G H102365047OMIM:620073
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0MASP1 CL E G H56486901OMIM:2579203mc syndrome 121
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndrome
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome19
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0006262HP:0006262Aplasia/Hypoplasia of the 5th finger0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0006262HP:0006209Partial-complete absence of 5th phalanges1 CL E G H
HP:0006262HP:0009237Short 5th finger1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0006262HP:0009237Short 5th finger1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0006262HP:0009237Short 5th finger1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0006262HP:0009237Short 5th finger1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0006262HP:0009238Aplasia of the 5th finger1ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0006262HP:0009237Short 5th finger1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0006262HP:0009237Short 5th finger1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0006262HP:0009237Short 5th finger1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0006262HP:0009237Short 5th finger1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0006262HP:0009237Short 5th finger1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0006262HP:0009237Short 5th finger1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0006262HP:0009237Short 5th finger1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent114
HP:0006262HP:0009237Short 5th finger1CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0006262HP:0009237Short 5th finger1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0006262HP:0009237Short 5th finger1COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0006262HP:0009237Short 5th finger1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0006262HP:0009237Short 5th finger1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0006262HP:0009237Short 5th finger1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0006262HP:0009237Short 5th finger1EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies4
HP:0006262HP:0009237Short 5th finger1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0006262HP:0009237Short 5th finger1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0006262HP:0009237Short 5th finger1GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0006262HP:0009237Short 5th finger1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0006262HP:0009237Short 5th finger1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0006262HP:0009237Short 5th finger1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0006262HP:0009237Short 5th finger1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0006262HP:0009237Short 5th finger1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0006262HP:0009237Short 5th finger1GJA1 CL E G H26974274OMIM:186100Syndactyly, type III.68
HP:0006262HP:0009238Aplasia of the 5th finger1GJA1 CL E G H26974274OMIM:186100Syndactyly, type III68
HP:0006262HP:0009237Short 5th finger1GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040282 - Frequent101
HP:0006262HP:0009237Short 5th finger1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006262HP:0009237Short 5th finger1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0006262HP:0009237Short 5th finger1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent2
HP:0006262HP:0009237Short 5th finger1HNRNPR CL E G H102365047OMIM:620073
HP:0006262HP:0009237Short 5th finger1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0006262HP:0009237Short 5th finger1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0006262HP:0009237Short 5th finger1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0006262HP:0009238Aplasia of the 5th finger1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0006262HP:0009237Short 5th finger1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0006262HP:0009237Short 5th finger1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent9
HP:0006262HP:0009237Short 5th finger1KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent53
HP:0006262HP:0009237Short 5th finger1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0006262HP:0009237Short 5th finger1KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0006262HP:0009237Short 5th finger1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0006262HP:0009237Short 5th finger1KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent660
HP:0006262HP:0009237Short 5th finger1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0006262HP:0009237Short 5th finger1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0006262HP:0009237Short 5th finger1MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0006262HP:0009237Short 5th finger1MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0006262HP:0009237Short 5th finger1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0006262HP:0009237Short 5th finger1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0006262HP:0009237Short 5th finger1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0006262HP:0009237Short 5th finger1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2.143
HP:0006262HP:0009237Short 5th finger1PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0006262HP:0009237Short 5th finger1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006262HP:0009237Short 5th finger1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent3
HP:0006262HP:0009237Short 5th finger1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0006262HP:0009237Short 5th finger1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0006262HP:0009237Short 5th finger1PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0006262HP:0009237Short 5th finger1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0006262HP:0009237Short 5th finger1RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0006262HP:0009237Short 5th finger1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0006262HP:0009237Short 5th finger1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0006262HP:0009237Short 5th finger1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0006262HP:0009237Short 5th finger1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0006262HP:0009237Short 5th finger1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0006262HP:0009237Short 5th finger1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0006262HP:0009237Short 5th finger1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0006262HP:0009237Short 5th finger1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0006262HP:0009237Short 5th finger1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0006262HP:0009237Short 5th finger1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0006262HP:0009237Short 5th finger1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0006262HP:0009237Short 5th finger1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0006262HP:0009237Short 5th finger1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006262HP:0009237Short 5th finger1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0006262HP:0009237Short 5th finger1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0006262HP:0009237Short 5th finger1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0006262HP:0009238Aplasia of the 5th finger1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0006262HP:0009237Short 5th finger1TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0006262HP:0009237Short 5th finger1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0006262HP:0009237Short 5th finger1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0006262HP:0009225Aplasia of the proximal phalanx of the 5th finger2 CL E G H
HP:0006262HP:0009246Aplasia of the distal phalanx of the 5th finger2 CL E G H
HP:0006262HP:0004227Short distal phalanx of the 5th finger2ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0006262HP:0009162Absent middle phalanx of 5th finger2ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant5
HP:0006262HP:0004220Short middle phalanx of the 5th finger2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional13
HP:0006262HP:0004220Short middle phalanx of the 5th finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0006262HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional90
HP:0006262HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0006262HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0006262HP:0004227Short distal phalanx of the 5th finger2COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0006262HP:0004220Short middle phalanx of the 5th finger2DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040281 - Very frequent52
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional52
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0006262HP:0009162Absent middle phalanx of 5th finger2GJA1 CL E G H26974274OMIM:186100Syndactyly, type III.68
HP:0006262HP:0004220Short middle phalanx of the 5th finger2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006262HP:0004227Short distal phalanx of the 5th finger2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0006262HP:0004220Short middle phalanx of the 5th finger2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0006262HP:0004227Short distal phalanx of the 5th finger2HNRNPR CL E G H102365047OMIM:620073
HP:0006262HP:0004220Short middle phalanx of the 5th finger2HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0006262HP:0004220Short middle phalanx of the 5th finger2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0006262HP:0009162Absent middle phalanx of 5th finger2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0006262HP:0004220Short middle phalanx of the 5th finger2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0006262HP:0004227Short distal phalanx of the 5th finger2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0006262HP:0009226Short proximal phalanx of the 5th finger2KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0006262HP:0004220Short middle phalanx of the 5th finger2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0006262HP:0004220Short middle phalanx of the 5th finger2NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0006262HP:0004220Short middle phalanx of the 5th finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0006262HP:0004220Short middle phalanx of the 5th finger2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0006262HP:0004220Short middle phalanx of the 5th finger2RBBP8 CL E G H59329891OMIM:251255Jawad syndrome.68
HP:0006262HP:0004220Short middle phalanx of the 5th finger2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0006262HP:0004220Short middle phalanx of the 5th finger2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0006262HP:0004220Short middle phalanx of the 5th finger2RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0006262HP:0004227Short distal phalanx of the 5th finger2SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0006262HP:0004220Short middle phalanx of the 5th finger2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0006262HP:0004220Short middle phalanx of the 5th finger2TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0006262HP:0004220Short middle phalanx of the 5th finger2WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98


Genes (60) :ARID1A ARID1B ARID2 ATP6V1B2 BMP2 BMPR1B CDKN1C CNOT2 COL2A1 COX4I1 CUL7 DPF2 DVL1 EIF4A3 FGD1 GATA1 GDF5 GJA1 GNAS GNB2 H19-ICR HMGA2 HNRNPR HOXA13 HOXD13 IFT140 IGF2 KDM6A KIF15 KMT2D MAPK8IP3 MASP1 MEIS2 MYCN NIN NOG OBSL1 PIK3C2A PKDCC PLAG1 PUF60 RAC1 RBBP8 ROR2 RUNX2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC3 SOX11 SOX4 SRCAP TBC1D24 TBX3 TFAP2B WNT5A WNT7A ZMYM2

Diseases (58) :ORPHA:1465 OMIM:135900 OMIM:124480 ORPHA:79500 ORPHA:93396 OMIM:112600 OMIM:616849 ORPHA:397590 OMIM:618608 OMIM:271700 OMIM:619060 OMIM:273750 OMIM:180700 OMIM:268305 OMIM:305400 OMIM:190685 ORPHA:63442 OMIM:615072 OMIM:113100 OMIM:164200 OMIM:186100 ORPHA:79445 OMIM:619503 OMIM:180860 OMIM:620073 OMIM:140000 ORPHA:93409 OMIM:186000 OMIM:266920 ORPHA:2322 OMIM:147920 OMIM:300867 ORPHA:261323 OMIM:618443 OMIM:257920 OMIM:600987 ORPHA:391641 ORPHA:319675 OMIM:186500 OMIM:612921 ORPHA:557003 OMIM:618821 ORPHA:508488 ORPHA:508498 OMIM:615583 ORPHA:500159 OMIM:251255 OMIM:268310 OMIM:119600 OMIM:156510 OMIM:614608 OMIM:610759 OMIM:136140 OMIM:220500 OMIM:181450 ORPHA:46627 OMIM:228930 OMIM:619522
 

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