Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Parent Node:
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Short digit (HP:0011927)help
..Starting node
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Brachydactyly (HP:0001156)help
Term ID: 1156
Name: Brachydactyly
Synonym: Brachydactyly syndrome; Short fingers or toes
Definition: Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Comments:
Reference: HP:0001156
Genes and Diseases:
 
       Child Nodes:
........expandType D brachydactyly (HP:0005627) help
........expandType B brachydactyly (HP:0005831) help
........expandType E brachydactyly (HP:0005863) help
........expandBrachytelomesophalangy (HP:0005872) help
........expandUnilateral brachydactyly (HP:0006008) help
........expandType A brachydactyly (HP:0009370) help
................... HP:0004220 Short middle phalanx of the 5th finger
................... HP:0009371 Type A1 brachydactyly
................... HP:0009372 Type A2 brachydactyly
................... HP:0031043 Type A4 brachydactyly
................... HP:0031044 Type A5 brachydactyly
........expandType C brachydactyly (HP:0009373) help

 Sister Nodes: 
..expandShort finger (HP:0009381) help
..expandShort toe (HP:0001831) 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:0001156HP:0001156Brachydactyly0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecansHP:0040284 - Very rare34
HP:0001156HP:0001156Brachydactyly0ACAN CL E G H176319ORPHA:435804Short stature-advanced bone age-early-onset osteoarthritis syndromeHP:0040282 - Frequent34
HP:0001156HP:0001156Brachydactyly0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0001156HP:0001156Brachydactyly0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type.34
HP:0001156HP:0001156Brachydactyly0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent63
HP:0001156HP:0001156Brachydactyly0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0001156HP:0001156Brachydactyly0ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4HP:0040284 - Very rare214
HP:0001156HP:0001156Brachydactyly0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0001156HP:0001156Brachydactyly0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0001156HP:0001156Brachydactyly0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040282 - Frequent6
HP:0001156HP:0001156Brachydactyly0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent5
HP:0001156HP:0001156Brachydactyly0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0001156HP:0001156Brachydactyly0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0001156HP:0001156Brachydactyly0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040284 - Very rare66
HP:0001156HP:0001156Brachydactyly0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0001156HP:0001156Brachydactyly0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0001156HP:0001156Brachydactyly0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0001156HP:0001156Brachydactyly0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0001156HP:0001156Brachydactyly0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0001156HP:0001156Brachydactyly0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 31
HP:0001156HP:0001156Brachydactyly0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent147
HP:0001156HP:0001156Brachydactyly0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0001156HP:0001156Brachydactyly0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0001156HP:0001156Brachydactyly0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0001156HP:0001156Brachydactyly0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0001156HP:0001156Brachydactyly0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 3.29
HP:0001156HP:0001156Brachydactyly0ATP6V1B2 CL E G H526854OMIM:124480Deafness, congenital, and onychodystrophy, autosomal dominant.5
HP:0001156HP:0001156Brachydactyly0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0001156HP:0001156Brachydactyly0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0001156HP:0001156Brachydactyly0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001156HP:0001156Brachydactyly0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0001156HP:0001156Brachydactyly0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0001156HP:0001156Brachydactyly0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001156HP:0001156Brachydactyly0BBIP1 CL E G H9248228093OMIM:615995Bardet-Biedl syndrome 18.1
HP:0001156HP:0001156Brachydactyly0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0001156HP:0001156Brachydactyly0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 4.87
HP:0001156HP:0001156Brachydactyly0BBS5 CL E G H129880970OMIM:615983Bardet-Biedl syndrome 525
HP:0001156HP:0001156Brachydactyly0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0001156HP:0001156Brachydactyly0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0001156HP:0001156Brachydactyly0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0001156HP:0001156Brachydactyly0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0001156HP:0001156Brachydactyly0BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0001156HP:0001156Brachydactyly0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 6.38
HP:0001156HP:0001156Brachydactyly0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0001156HP:0001156Brachydactyly0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent90
HP:0001156HP:0001156Brachydactyly0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0001156HP:0001156Brachydactyly0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0001156HP:0001156Brachydactyly0BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0001156HP:0001156Brachydactyly0BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0001156HP:0001156Brachydactyly0BMPR1B CL E G H6581077ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent90
HP:0001156HP:0001156Brachydactyly0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type.
HP:0001156HP:0001156Brachydactyly0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0001156HP:0001156Brachydactyly0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0001156HP:0001156Brachydactyly0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001156HP:0001156Brachydactyly0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0001156HP:0001156Brachydactyly0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001156HP:0001156Brachydactyly0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0001156HP:0001156Brachydactyly0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040283 - Occasional317
HP:0001156HP:0001156Brachydactyly0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0001156HP:0001156Brachydactyly0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0001156HP:0001156Brachydactyly0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0001156HP:0001156Brachydactyly0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndromeHP:0040284 - Very rare2
HP:0001156HP:0001156Brachydactyly0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040282 - Frequent7
HP:0001156HP:0001156Brachydactyly0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0001156HP:0001156Brachydactyly0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0001156HP:0001156Brachydactyly0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0001156HP:0001156Brachydactyly0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0001156HP:0001156Brachydactyly0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.1
HP:0001156HP:0001156Brachydactyly0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040281 - Very frequent165
HP:0001156HP:0001156Brachydactyly0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0001156HP:0001156Brachydactyly0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome.16
HP:0001156HP:0001156Brachydactyly0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0001156HP:0001156Brachydactyly0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0001156HP:0001156Brachydactyly0CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent5
HP:0001156HP:0001156Brachydactyly0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0001156HP:0001156Brachydactyly0COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent215
HP:0001156HP:0001156Brachydactyly0COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent222
HP:0001156HP:0001156Brachydactyly0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0001156HP:0001156Brachydactyly0COL2A1 CL E G H12802200OMIM:132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness.284
HP:0001156HP:0001156Brachydactyly0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040282 - Frequent284
HP:0001156HP:0001156Brachydactyly0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0001156HP:0001156Brachydactyly0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0001156HP:0001156Brachydactyly0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0001156HP:0001156Brachydactyly0COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndrome284
HP:0001156HP:0001156Brachydactyly0COL2A1 CL E G H12802200OMIM:619248VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED284
HP:0001156HP:0001156Brachydactyly0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0001156HP:0001156Brachydactyly0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040282 - Frequent89
HP:0001156HP:0001156Brachydactyly0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001156HP:0001156Brachydactyly0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0001156HP:0001156Brachydactyly0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001156HP:0001156Brachydactyly0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0001156HP:0001156Brachydactyly0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0001156HP:0001156Brachydactyly0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0001156HP:0001156Brachydactyly0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040281 - Very frequent39
HP:0001156HP:0001156Brachydactyly0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001156HP:0001156Brachydactyly0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040281 - Very frequent4
HP:0001156HP:0001156Brachydactyly0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0001156HP:0001156Brachydactyly0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0001156HP:0001156Brachydactyly0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0001156HP:0001156Brachydactyly0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0001156HP:0001156Brachydactyly0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0001156HP:0001156Brachydactyly0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent9
HP:0001156HP:0001156Brachydactyly0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 6.9
HP:0001156HP:0001156Brachydactyly0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent18
HP:0001156HP:0001156Brachydactyly0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0001156HP:0001156Brachydactyly0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0001156HP:0001156Brachydactyly0DPH2 CL E G H18023004OMIM:620062
HP:0001156HP:0001156Brachydactyly0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent14
HP:0001156HP:0001156Brachydactyly0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0001156HP:0001156Brachydactyly0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0001156HP:0001156Brachydactyly0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent5
HP:0001156HP:0001156Brachydactyly0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0001156HP:0001156Brachydactyly0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0001156HP:0001156Brachydactyly0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3.304
HP:0001156HP:0001156Brachydactyly0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040282 - Frequent304
HP:0001156HP:0001156Brachydactyly0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0001156HP:0001156Brachydactyly0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly.
HP:0001156HP:0001156Brachydactyly0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040282 - Frequent7
HP:0001156HP:0001156Brachydactyly0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0001156HP:0001156Brachydactyly0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly.
HP:0001156HP:0001156Brachydactyly0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0001156HP:0001156Brachydactyly0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0001156HP:0001156Brachydactyly0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome.223
HP:0001156HP:0001156Brachydactyly0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent4
HP:0001156HP:0001156Brachydactyly0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0001156HP:0001156Brachydactyly0ERF CL E G H20773444OMIM:617180Chitayat syndrome12
HP:0001156HP:0001156Brachydactyly0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0001156HP:0001156Brachydactyly0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0001156HP:0001156Brachydactyly0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0001156HP:0001156Brachydactyly0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0001156HP:0001156Brachydactyly0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0001156HP:0001156Brachydactyly0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional96
HP:0001156HP:0001156Brachydactyly0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0001156HP:0001156Brachydactyly0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0001156HP:0001156Brachydactyly0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0001156HP:0001156Brachydactyly0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0FAM20C CL E G H5697522140OMIM:259775Raine syndromeHP:0040283 - Occasional35
HP:0001156HP:0001156Brachydactyly0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent1361
HP:0001156HP:0001156Brachydactyly0FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent1361
HP:0001156HP:0001156Brachydactyly0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0001156HP:0001156Brachydactyly0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001156HP:0001156Brachydactyly0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001156HP:0001156Brachydactyly0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0001156HP:0001156Brachydactyly0FGF9 CL E G H22543687ORPHA:3237Multiple synostoses syndromeHP:0040281 - Very frequent75
HP:0001156HP:0001156Brachydactyly0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040283 - Occasional172
HP:0001156HP:0001156Brachydactyly0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0001156HP:0001156Brachydactyly0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0001156HP:0001156Brachydactyly0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0001156HP:0001156Brachydactyly0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA.145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690ORPHA:429HypochondroplasiaHP:0040281 - Very frequent145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0001156HP:0001156Brachydactyly0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0001156HP:0001156Brachydactyly0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0001156HP:0001156Brachydactyly0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0001156HP:0001156Brachydactyly0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0001156HP:0001156Brachydactyly0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0001156HP:0001156Brachydactyly0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0001156HP:0001156Brachydactyly0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0001156HP:0001156Brachydactyly0FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0001156HP:0001156Brachydactyly0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0001156HP:0001156Brachydactyly0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0001156HP:0001156Brachydactyly0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0001156HP:0001156Brachydactyly0GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent87
HP:0001156HP:0001156Brachydactyly0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent10
HP:0001156HP:0001156Brachydactyly0GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent37
HP:0001156HP:0001156Brachydactyly0GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent28
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson typeHP:0040281 - Very frequent52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, CHP:0040280 - Obligate52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C.52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:2639Fibular aplasia-complex brachydactyly syndromeHP:0040281 - Very frequent52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:3237Multiple synostoses syndromeHP:0040281 - Very frequent52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220OMIM:610017Multiple synostoses syndrome 2.52
HP:0001156HP:0001156Brachydactyly0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040282 - Frequent52
HP:0001156HP:0001156Brachydactyly0GDF6 CL E G H3922554221OMIM:617898Multiple synostoses syndrome 4HP:0040284 - Very rare64
HP:0001156HP:0001156Brachydactyly0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040282 - Frequent98
HP:0001156HP:0001156Brachydactyly0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional68
HP:0001156HP:0001156Brachydactyly0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0001156HP:0001156Brachydactyly0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0001156HP:0001156Brachydactyly0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001156HP:0001156Brachydactyly0GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent39
HP:0001156HP:0001156Brachydactyly0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001156HP:0001156Brachydactyly0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional74
HP:0001156HP:0001156Brachydactyly0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional12
HP:0001156HP:0001156Brachydactyly0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392ORPHA:2762Progressive osseous heteroplasiaHP:0040283 - Occasional101
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392OMIM:603233Pseudohypoparathyroidism, type IBHP:0040283 - Occasional101
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0001156HP:0001156Brachydactyly0GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040282 - Frequent101
HP:0001156HP:0001156Brachydactyly0GNAS-AS1 CL E G H14977524872OMIM:603233Pseudohypoparathyroidism, type IBHP:0040283 - Occasional1
HP:0001156HP:0001156Brachydactyly0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001156HP:0001156Brachydactyly0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0001156HP:0001156Brachydactyly0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0001156HP:0001156Brachydactyly0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0001156HP:0001156Brachydactyly0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0001156HP:0001156Brachydactyly0HEATR3 CL E G H5502726087OMIM:620072
HP:0001156HP:0001156Brachydactyly0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0001156HP:0001156Brachydactyly0HNRNPR CL E G H102365047OMIM:620073
HP:0001156HP:0001156Brachydactyly0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0001156HP:0001156Brachydactyly0HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias.11
HP:0001156HP:0001156Brachydactyly0HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type E25
HP:0001156HP:0001156Brachydactyly0HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0001156HP:0001156Brachydactyly0HOXD13 CL E G H32395136OMIM:113300Brachydactyly, type E.25
HP:0001156HP:0001156Brachydactyly0HOXD13 CL E G H32395136OMIM:610713BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD25
HP:0001156HP:0001156Brachydactyly0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0001156HP:0001156Brachydactyly0HOXD13 CL E G H32395136OMIM:186300Syndactyly, type V.25
HP:0001156HP:0001156Brachydactyly0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0001156HP:0001156Brachydactyly0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0001156HP:0001156Brachydactyly0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0001156HP:0001156Brachydactyly0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001156HP:0001156Brachydactyly0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0001156HP:0001156Brachydactyly0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0001156HP:0001156Brachydactyly0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0001156HP:0001156Brachydactyly0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040282 - Frequent148
HP:0001156HP:0001156Brachydactyly0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040282 - Frequent48
HP:0001156HP:0001156Brachydactyly0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0001156HP:0001156Brachydactyly0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0001156HP:0001156Brachydactyly0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0001156HP:0001156Brachydactyly0IFT43 CL E G H11275229669OMIM:617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD1811
HP:0001156HP:0001156Brachydactyly0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0001156HP:0001156Brachydactyly0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0001156HP:0001156Brachydactyly0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0001156HP:0001156Brachydactyly0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0001156HP:0001156Brachydactyly0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040282 - Frequent65
HP:0001156HP:0001156Brachydactyly0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly.2
HP:0001156HP:0001156Brachydactyly0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0001156HP:0001156Brachydactyly0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia.44
HP:0001156HP:0001156Brachydactyly0IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44
HP:0001156HP:0001156Brachydactyly0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0001156HP:0001156Brachydactyly0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040281 - Very frequent18
HP:0001156HP:0001156Brachydactyly0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0001156HP:0001156Brachydactyly0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0001156HP:0001156Brachydactyly0JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent257
HP:0001156HP:0001156Brachydactyly0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0001156HP:0001156Brachydactyly0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040283 - Occasional34
HP:0001156HP:0001156Brachydactyly0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0001156HP:0001156Brachydactyly0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0001156HP:0001156Brachydactyly0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0001156HP:0001156Brachydactyly0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0001156HP:0001156Brachydactyly0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0001156HP:0001156Brachydactyly0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0001156HP:0001156Brachydactyly0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001156HP:0001156Brachydactyly0KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent40
HP:0001156HP:0001156Brachydactyly0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040283 - Occasional4
HP:0001156HP:0001156Brachydactyly0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0001156HP:0001156Brachydactyly0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0001156HP:0001156Brachydactyly0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0001156HP:0001156Brachydactyly0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0001156HP:0001156Brachydactyly0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0001156HP:0001156Brachydactyly0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0001156HP:0001156Brachydactyly0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001156HP:0001156Brachydactyly0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040283 - Occasional196
HP:0001156HP:0001156Brachydactyly0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040282 - Frequent196
HP:0001156HP:0001156Brachydactyly0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001156HP:0001156Brachydactyly0LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040281 - Very frequent70
HP:0001156HP:0001156Brachydactyly0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0001156HP:0001156Brachydactyly0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0001156HP:0001156Brachydactyly0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0001156HP:0001156Brachydactyly0LMNA CL E G H40006636OMIM:610140Heart-hand syndrome, Slovenian type.645
HP:0001156HP:0001156Brachydactyly0LMNA CL E G H40006636ORPHA:168796Heart-hand syndrome, Slovenian typeHP:0040283 - Occasional645
HP:0001156HP:0001156Brachydactyly0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0001156HP:0001156Brachydactyly0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001156HP:0001156Brachydactyly0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0001156HP:0001156Brachydactyly0LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent123
HP:0001156HP:0001156Brachydactyly0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3.123
HP:0001156HP:0001156Brachydactyly0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent12
HP:0001156HP:0001156Brachydactyly0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0001156HP:0001156Brachydactyly0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0001156HP:0001156Brachydactyly0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040283 - Occasional43
HP:0001156HP:0001156Brachydactyly0MACROH2A1 CL E G H95554740ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0001156HP:0001156Brachydactyly0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0001156HP:0001156Brachydactyly0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0001156HP:0001156Brachydactyly0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0001156HP:0001156Brachydactyly0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0001156HP:0001156Brachydactyly0MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndromeHP:0040281 - Very frequent11
HP:0001156HP:0001156Brachydactyly0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001156HP:0001156Brachydactyly0MBTPS1 CL E G H872015456OMIM:618392Spondyloepiphyseal dysplasia, Kondo-Fu type.
HP:0001156HP:0001156Brachydactyly0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional228
HP:0001156HP:0001156Brachydactyly0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040280 - Obligate13
HP:0001156HP:0001156Brachydactyly0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0001156HP:0001156Brachydactyly0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0001156HP:0001156Brachydactyly0MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0001156HP:0001156Brachydactyly0MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 2HP:0040282 - Frequent1
HP:0001156HP:0001156Brachydactyly0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0001156HP:0001156Brachydactyly0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0001156HP:0001156Brachydactyly0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 2.60
HP:0001156HP:0001156Brachydactyly0MSX2 CL E G H44887392OMIM:604757Craniosynostosis 2HP:0040283 - Occasional45
HP:0001156HP:0001156Brachydactyly0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0001156HP:0001156Brachydactyly0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0001156HP:0001156Brachydactyly0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0001156HP:0001156Brachydactyly0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0001156HP:0001156Brachydactyly0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0001156HP:0001156Brachydactyly0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001156HP:0001156Brachydactyly0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0001156HP:0001156Brachydactyly0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0001156HP:0001156Brachydactyly0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent3
HP:0001156HP:0001156Brachydactyly0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0001156HP:0001156Brachydactyly0NOG CL E G H92417866ORPHA:140908Brachydactyly type B222
HP:0001156HP:0001156Brachydactyly0NOG CL E G H92417866ORPHA:3237Multiple synostoses syndromeHP:0040281 - Very frequent22
HP:0001156HP:0001156Brachydactyly0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0001156HP:0001156Brachydactyly0NOG CL E G H92417866ORPHA:3250Proximal symphalangismHP:0040282 - Frequent22
HP:0001156HP:0001156Brachydactyly0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome.22
HP:0001156HP:0001156Brachydactyly0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent452
HP:0001156HP:0001156Brachydactyly0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452
HP:0001156HP:0001156Brachydactyly0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0001156HP:0001156Brachydactyly0NPR2 CL E G H48827944ORPHA:40Acromesomelic dysplasia, Maroteaux typeHP:0040282 - Frequent53
HP:0001156HP:0001156Brachydactyly0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040283 - Occasional102
HP:0001156HP:0001156Brachydactyly0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0001156HP:0001156Brachydactyly0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0001156HP:0001156Brachydactyly0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0001156HP:0001156Brachydactyly0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0001156HP:0001156Brachydactyly0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0001156HP:0001156Brachydactyly0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0001156HP:0001156Brachydactyly0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0001156HP:0001156Brachydactyly0PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes.20
HP:0001156HP:0001156Brachydactyly0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0001156HP:0001156Brachydactyly0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040281 - Very frequent531
HP:0001156HP:0001156Brachydactyly0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0001156HP:0001156Brachydactyly0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0001156HP:0001156Brachydactyly0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040281 - Very frequent11
HP:0001156HP:0001156Brachydactyly0PDE3A CL E G H51398778ORPHA:1276Brachydactyly-arterial hypertension syndromeHP:0040281 - Very frequent9
HP:0001156HP:0001156Brachydactyly0PDE3A CL E G H51398778OMIM:112410Hypertension and brachydactyly syndrome.9
HP:0001156HP:0001156Brachydactyly0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0001156HP:0001156Brachydactyly0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0001156HP:0001156Brachydactyly0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0001156HP:0001156Brachydactyly0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040281 - Very frequent113
HP:0001156HP:0001156Brachydactyly0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0001156HP:0001156Brachydactyly0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0001156HP:0001156Brachydactyly0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040284 - Very rare15
HP:0001156HP:0001156Brachydactyly0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0001156HP:0001156Brachydactyly0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0001156HP:0001156Brachydactyly0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001156HP:0001156Brachydactyly0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0001156HP:0001156Brachydactyly0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040283 - Occasional43
HP:0001156HP:0001156Brachydactyly0PITX1 CL E G H53079004ORPHA:1275Brachydactyly-elbow wrist dysplasia syndromeHP:0040281 - Very frequent8
HP:0001156HP:0001156Brachydactyly0PITX1 CL E G H53079004OMIM:186550Synostosis, carpal, with dysplastic elbow joints and brachydactyly.8
HP:0001156HP:0001156Brachydactyly0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0001156HP:0001156Brachydactyly0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0001156HP:0001156Brachydactyly0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0001156HP:0001156Brachydactyly0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0001156HP:0001156Brachydactyly0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 2.2
HP:0001156HP:0001156Brachydactyly0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0001156HP:0001156Brachydactyly0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0001156HP:0001156Brachydactyly0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001156HP:0001156Brachydactyly0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0001156HP:0001156Brachydactyly0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0001156HP:0001156Brachydactyly0PPP3CA CL E G H55309314OMIM:618265Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development.2
HP:0001156HP:0001156Brachydactyly0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0001156HP:0001156Brachydactyly0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0001156HP:0001156Brachydactyly0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0001156HP:0001156Brachydactyly0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0001156HP:0001156Brachydactyly0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0001156HP:0001156Brachydactyly0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0001156HP:0001156Brachydactyly0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0001156HP:0001156Brachydactyly0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040281 - Very frequent6
HP:0001156HP:0001156Brachydactyly0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0001156HP:0001156Brachydactyly0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040282 - Frequent665
HP:0001156HP:0001156Brachydactyly0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0001156HP:0001156Brachydactyly0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040282 - Frequent40
HP:0001156HP:0001156Brachydactyly0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0001156HP:0001156Brachydactyly0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0001156HP:0001156Brachydactyly0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0001156HP:0001156Brachydactyly0PTHLH CL E G H57449607ORPHA:93387Brachydactyly type E6
HP:0001156HP:0001156Brachydactyly0PTHLH CL E G H57449607OMIM:613382Brachydactyly, type E2.6
HP:0001156HP:0001156Brachydactyly0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040283 - Occasional291
HP:0001156HP:0001156Brachydactyly0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0001156HP:0001156Brachydactyly0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0001156HP:0001156Brachydactyly0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040280 - Obligate31
HP:0001156HP:0001156Brachydactyly0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001156HP:0001156Brachydactyly0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4HP:0040283 - Occasional25
HP:0001156HP:0001156Brachydactyly0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040283 - Occasional212
HP:0001156HP:0001156Brachydactyly0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0001156HP:0001156Brachydactyly0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0001156HP:0001156Brachydactyly0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040283 - Occasional3
HP:0001156HP:0001156Brachydactyly0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0001156HP:0001156Brachydactyly0RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0001156HP:0001156Brachydactyly0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent3
HP:0001156HP:0001156Brachydactyly0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001156HP:0001156Brachydactyly0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0001156HP:0001156Brachydactyly0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040282 - Frequent3
HP:0001156HP:0001156Brachydactyly0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0001156HP:0001156Brachydactyly0RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0001156HP:0001156Brachydactyly0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040283 - Occasional43
HP:0001156HP:0001156Brachydactyly0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040283 - Occasional39
HP:0001156HP:0001156Brachydactyly0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0001156HP:0001156Brachydactyly0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0001156HP:0001156Brachydactyly0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0001156HP:0001156Brachydactyly0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040283 - Occasional15
HP:0001156HP:0001156Brachydactyly0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0001156HP:0001156Brachydactyly0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0001156HP:0001156Brachydactyly0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome.15
HP:0001156HP:0001156Brachydactyly0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0001156HP:0001156Brachydactyly0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0001156HP:0001156Brachydactyly0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0001156HP:0001156Brachydactyly0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0001156HP:0001156Brachydactyly0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0001156HP:0001156Brachydactyly0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0001156HP:0001156Brachydactyly0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040283 - Occasional1
HP:0001156HP:0001156Brachydactyly0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0001156HP:0001156Brachydactyly0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0001156HP:0001156Brachydactyly0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0001156HP:0001156Brachydactyly0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0001156HP:0001156Brachydactyly0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0001156HP:0001156Brachydactyly0SCNM1 CL E G H7900523136OMIM:620107
HP:0001156HP:0001156Brachydactyly0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0001156HP:0001156Brachydactyly0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0001156HP:0001156Brachydactyly0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0001156HP:0001156Brachydactyly0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0001156HP:0001156Brachydactyly0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0001156HP:0001156Brachydactyly0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0001156HP:0001156Brachydactyly0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0001156HP:0001156Brachydactyly0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0001156HP:0001156Brachydactyly0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0001156HP:0001156Brachydactyly0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0001156HP:0001156Brachydactyly0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent67
HP:0001156HP:0001156Brachydactyly0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040282 - Frequent9
HP:0001156HP:0001156Brachydactyly0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0001156HP:0001156Brachydactyly0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0001156HP:0001156Brachydactyly0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0001156HP:0001156Brachydactyly0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0001156HP:0001156Brachydactyly0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0001156HP:0001156Brachydactyly0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040283 - Occasional255
HP:0001156HP:0001156Brachydactyly0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0001156HP:0001156Brachydactyly0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0001156HP:0001156Brachydactyly0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0001156HP:0001156Brachydactyly0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0001156HP:0001156Brachydactyly0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0001156HP:0001156Brachydactyly0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0001156HP:0001156Brachydactyly0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0001156HP:0001156Brachydactyly0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001156HP:0001156Brachydactyly0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0001156HP:0001156Brachydactyly0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 3.91
HP:0001156HP:0001156Brachydactyly0SMG9 CL E G H5600625763OMIM:6199952
HP:0001156HP:0001156Brachydactyly0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001156HP:0001156Brachydactyly0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0001156HP:0001156Brachydactyly0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0001156HP:0001156Brachydactyly0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040283 - Occasional315
HP:0001156HP:0001156Brachydactyly0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040283 - Occasional30
HP:0001156HP:0001156Brachydactyly0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0001156HP:0001156Brachydactyly0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0001156HP:0001156Brachydactyly0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0001156HP:0001156Brachydactyly0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0001156HP:0001156Brachydactyly0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040283 - Occasional
HP:0001156HP:0001156Brachydactyly0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0001156HP:0001156Brachydactyly0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0001156HP:0001156Brachydactyly0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0001156HP:0001156Brachydactyly0STX16 CL E G H867511431OMIM:603233Pseudohypoparathyroidism, type IBHP:0040283 - Occasional86
HP:0001156HP:0001156Brachydactyly0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0001156HP:0001156Brachydactyly0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040282 - Frequent124
HP:0001156HP:0001156Brachydactyly0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001156HP:0001156Brachydactyly0TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent32
HP:0001156HP:0001156Brachydactyly0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040280 - Obligate5
HP:0001156HP:0001156Brachydactyly0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040283 - Occasional28
HP:0001156HP:0001156Brachydactyly0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 3HP:0040283 - Occasional28
HP:0001156HP:0001156Brachydactyly0TCF12 CL E G H693811623ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional28
HP:0001156HP:0001156Brachydactyly0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0001156HP:0001156Brachydactyly0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0001156HP:0001156Brachydactyly0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040282 - Frequent12
HP:0001156HP:0001156Brachydactyly0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0001156HP:0001156Brachydactyly0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2.253
HP:0001156HP:0001156Brachydactyly0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0001156HP:0001156Brachydactyly0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0001156HP:0001156Brachydactyly0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0001156HP:0001156Brachydactyly0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0001156HP:0001156Brachydactyly0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040282 - Frequent
HP:0001156HP:0001156Brachydactyly0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0001156HP:0001156Brachydactyly0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0001156HP:0001156Brachydactyly0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0001156HP:0001156Brachydactyly0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional171
HP:0001156HP:0001156Brachydactyly0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0001156HP:0001156Brachydactyly0TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial214
HP:0001156HP:0001156Brachydactyly0TRPV4 CL E G H5934118083ORPHA:85169Familial digital arthropathy-brachydactylyHP:0040281 - Very frequent214
HP:0001156HP:0001156Brachydactyly0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0001156HP:0001156Brachydactyly0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040282 - Frequent214
HP:0001156HP:0001156Brachydactyly0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040282 - Frequent132
HP:0001156HP:0001156Brachydactyly0TTC21B CL E G H7980925660OMIM:613819Short-Rib thoracic dysplasia 4 with or without polydactyly.132
HP:0001156HP:0001156Brachydactyly0TWIST1 CL E G H729112428ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional18
HP:0001156HP:0001156Brachydactyly0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0001156HP:0001156Brachydactyly0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0001156HP:0001156Brachydactyly0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0001156HP:0001156Brachydactyly0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001156HP:0001156Brachydactyly0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional33
HP:0001156HP:0001156Brachydactyly0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001156HP:0001156Brachydactyly0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0001156HP:0001156Brachydactyly0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0001156HP:0001156Brachydactyly0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0001156HP:0001156Brachydactyly0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040282 - Frequent95
HP:0001156HP:0001156Brachydactyly0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0001156HP:0001156Brachydactyly0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0001156HP:0001156Brachydactyly0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0001156HP:0001156Brachydactyly0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0001156HP:0001156Brachydactyly0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0001156HP:0001156Brachydactyly0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040281 - Very frequent98
HP:0001156HP:0001156Brachydactyly0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0001156HP:0001156Brachydactyly0YY1AP1 CL E G H5524930935OMIM:602531Grange syndrome.5
HP:0001156HP:0001156Brachydactyly0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040283 - Occasional10
HP:0001156HP:0001156Brachydactyly0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent31
HP:0001156HP:0001156Brachydactyly0ZIC1 CL E G H754512872ORPHA:35099Isolated brachycephalyHP:0040283 - Occasional5
HP:0001156HP:0001156Brachydactyly0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001156HP:0006008Unilateral brachydactyly1 CL E G H
HP:0001156HP:0009370Type A brachydactyly1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0001156HP:0009370Type A brachydactyly1BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A213
HP:0001156HP:0009370Type A brachydactyly1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0001156HP:0009373Type C brachydactyly1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040281 - Very frequent90
HP:0001156HP:0009370Type A brachydactyly1BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0001156HP:0009370Type A brachydactyly1BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A290
HP:0001156HP:0005863Type E brachydactyly1COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndromeHP:0040282 - Frequent284
HP:0001156HP:0009370Type A brachydactyly1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0001156HP:0009370Type A brachydactyly1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0001156HP:0009370Type A brachydactyly1GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0001156HP:0009370Type A brachydactyly1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0001156HP:0009373Type C brachydactyly1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040281 - Very frequent52
HP:0001156HP:0009370Type A brachydactyly1GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0001156HP:0009370Type A brachydactyly1GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A252
HP:0001156HP:0009370Type A brachydactyly1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0001156HP:0009370Type A brachydactyly1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0001156HP:0009370Type A brachydactyly1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001156HP:0009370Type A brachydactyly1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0001156HP:0005863Type E brachydactyly1HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type EHP:0040281 - Very frequent25
HP:0001156HP:0005627Type D brachydactyly1HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D.25
HP:0001156HP:0005863Type E brachydactyly1HOXD13 CL E G H32395136OMIM:113300Brachydactyly, type E.25
HP:0001156HP:0009370Type A brachydactyly1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0001156HP:0009370Type A brachydactyly1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0001156HP:0009370Type A brachydactyly1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0001156HP:0009370Type A brachydactyly1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0001156HP:0009370Type A brachydactyly1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0001156HP:0005831Type B brachydactyly1NOG CL E G H92417866ORPHA:140908Brachydactyly type B2HP:0040281 - Very frequent22
HP:0001156HP:0009370Type A brachydactyly1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0001156HP:0009370Type A brachydactyly1PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0001156HP:0005863Type E brachydactyly1PTHLH CL E G H57449607ORPHA:93387Brachydactyly type EHP:0040281 - Very frequent6
HP:0001156HP:0009370Type A brachydactyly1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0001156HP:0009370Type A brachydactyly1RBBP8 CL E G H59329891OMIM:251255Jawad syndrome68
HP:0001156HP:0005831Type B brachydactyly1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1.120
HP:0001156HP:0009370Type A brachydactyly1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0001156HP:0009370Type A brachydactyly1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0001156HP:0009370Type A brachydactyly1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0001156HP:0009370Type A brachydactyly1SCNM1 CL E G H7900523136OMIM:620107
HP:0001156HP:0009370Type A brachydactyly1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0001156HP:0009370Type A brachydactyly1TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0001156HP:0005872Brachytelomesophalangy1TRPV4 CL E G H5934118083OMIM:606835Digital arthropathy-brachydactyly, familial.214
HP:0001156HP:0009370Type A brachydactyly1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0001156HP:0031044Type A5 brachydactyly2 CL E G H
HP:0001156HP:0031043Type A4 brachydactyly2 CL E G H
HP:0001156HP:0009372Type A2 brachydactyly2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040281 - Very frequent13
HP:0001156HP:0004220Short middle phalanx of the 5th finger2BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional13
HP:0001156HP:0004220Short middle phalanx of the 5th finger2BMP2 CL E G H6501069OMIM:112600Brachydactyly, type A2.13
HP:0001156HP:0009372Type A2 brachydactyly2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040281 - Very frequent90
HP:0001156HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional90
HP:0001156HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077OMIM:616849BRACHYDACTYLY, TYPE A1, D; BDA1D90
HP:0001156HP:0004220Short middle phalanx of the 5th finger2BMPR1B CL E G H6581077OMIM:112600Brachydactyly, type A2.90
HP:0001156HP:0004220Short middle phalanx of the 5th finger2DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040281 - Very frequent52
HP:0001156HP:0009372Type A2 brachydactyly2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040281 - Very frequent52
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional52
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:615072Brachydactyly, type A1, C52
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:112600Brachydactyly, type A2.52
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0001156HP:0004220Short middle phalanx of the 5th finger2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001156HP:0004220Short middle phalanx of the 5th finger2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0001156HP:0004220Short middle phalanx of the 5th finger2HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0001156HP:0004220Short middle phalanx of the 5th finger2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0001156HP:0004220Short middle phalanx of the 5th finger2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0001156HP:0004220Short middle phalanx of the 5th finger2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0001156HP:0004220Short middle phalanx of the 5th finger2NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0001156HP:0004220Short middle phalanx of the 5th finger2NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0001156HP:0009371Type A1 brachydactyly2PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0001156HP:0004220Short middle phalanx of the 5th finger2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0001156HP:0004220Short middle phalanx of the 5th finger2RBBP8 CL E G H59329891OMIM:251255Jawad syndrome.68
HP:0001156HP:0004220Short middle phalanx of the 5th finger2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0001156HP:0004220Short middle phalanx of the 5th finger2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0001156HP:0004220Short middle phalanx of the 5th finger2RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0001156HP:0004220Short middle phalanx of the 5th finger2SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0001156HP:0004220Short middle phalanx of the 5th finger2TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0001156HP:0004220Short middle phalanx of the 5th finger2WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98


Genes (364) :ACAN ADAMTS10 ADAMTS17 ADNP AFF4 AHSG AIFM1 AKT1 ALG6 ALG8 ALX1 ALX3 ANTXR2 APC2 ARHGAP31 ARID1A ARID2 ARL6 ATP6V1B2 ATP7A ATRX B3GLCT BAP1 BBIP1 BBS1 BBS4 BBS5 BBS9 BGN BHLHA9 BMP2 BMP4 BMPR1B BPNT2 BRAF C12ORF57 CAMK2G CANT1 CASZ1 CBL CCDC22 CCDC28B CCDC32 CDH11 CEP120 CEP55 CHD7 CHN1 CHRNA7 CHST11 CHST3 CHSY1 CILK1 CITED2 COL11A1 COL11A2 COL2A1 COMP CPLANE1 CRIPT CSGALNACT1 CSNK2A1 CSPP1 CTSK CUL4B CWC27 DBH DCPS DEAF1 DHCR7 DLL4 DOCK6 DONSON DPF2 DPH2 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EFNB1 EHMT1 EOGT EPB41L1 ERF ESCO2 EVC EVC2 EXOSC2 EXT1 EXTL3 FAM111A FAM149B1 FAM20C FBN1 FBXO28 FBXW11 FGD1 FGF9 FGFR1 FGFR2 FGFR3 FLII FLNA FLNB FLT4 FTO FZD2 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF5 GDF6 GHR GJA1 GJA5 GJA8 GJB3 GJB4 GLI3 GNAS GNAS-AS1 GNB2 GPC4 GPX4 GRB10 H19-ICR HDAC4 HEATR3 HHAT HNRNPR HOXA13 HOXD13 HRAS HSPG2 HUWE1 IARS2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT80 IFT81 IGF2 IHH INPP5K INPPL1 IQSEC2 ITGB6 JAG1 KAT6A KAT6B KCNAB2 KCNJ2 KCNK4 KDM1A KDM5C KDM6A KDR KDSR KIAA0586 KIAA0753 KIF15 KIF7 KLF13 KLLN KRAS LBR LIFR LIG4 LMNA LONP1 LSS LTBP1 LTBP2 LTBP3 LUZP1 LZTFL1 LZTR1 MACROH2A1 MAF MAFB MAGEL2 MAP2K1 MAP3K7 MARS1 MBTPS1 MED12 MEGF8 MGAT2 MIR140 MIR17HG MKKS MMP23B MRAS MRPS16 MSX2 MYCN MYMK MYMX MYSM1 NBAS NEK1 NEPRO NIN NKX2-5 NKX2-6 NLRP3 NOG NOTCH1 NOTCH2 NPR2 NRAS NSUN2 NXN OFD1 PAH PAPSS2 PAX3 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDPN PGM3 PIGK PIGN PIGS PIK3CA PIK3R1 PITX1 PLCB3 PLXND1 PNPLA6 POC1A POGZ POMP POP1 POR PORCN PPM1D PPP1CB PPP3CA PRDM16 PRKACB PRKAR1A PRKAR1B PRKCZ PRMT7 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTHLH PTPN11 PUF60 RAB23 RAD21 RAF1 RAI1 RASA2 RB1 RBBP8 RBPJ RDH11 RERE REV3L RHOA RIN2 RIT1 RLIM RMRP RNU4ATAC ROR2 RPS6KA3 RRAS RRAS2 RSPRY1 RUNX2 SALL4 SCNM1 SCUBE3 SDHB SDHC SDHD SEC23B SEMA3E SH3PXD2B SHOC2 SHOX SIK3 SIL1 SIN3A SKI SLC26A2 SLC2A1 SLC35C1 SLC35D1 SLURP1 SMAD4 SMARCA2 SMARCD2 SMC1A SMC3 SMG9 SNRPN SNX14 SOS1 SOS2 SPART SPECC1L SPEN SPRED2 SRCAP STAMBP STX16 SUFU TASP1 TBX1 TBX15 TBX22 TCF12 TCTN3 TELO2 TFAP2B TGFBR2 TLK2 TMEM216 TMEM67 TNNT3 TONSL TOPORS TRIO TRIP11 TRPS1 TRPV4 TTC21B TWIST1 TWIST2 UBE4B UPF3B USF3 WAC WASHC5 WDR19 WDR35 WNT4 WNT5A YY1AP1 ZDHHC9 ZFPM2 ZIC1 ZMIZ1

Diseases (394) :OMIM:165800 ORPHA:435804 ORPHA:171866 OMIM:612813 ORPHA:3449 OMIM:277600 OMIM:613195 ORPHA:404448 OMIM:616368 ORPHA:444077 ORPHA:2850 OMIM:300232 ORPHA:201 ORPHA:79320 ORPHA:79325 ORPHA:306542 OMIM:136760 ORPHA:391474 ORPHA:2176 OMIM:617169 ORPHA:974 OMIM:100300 OMIM:614607 OMIM:617808 OMIM:209900 OMIM:600151 OMIM:124480 ORPHA:198 ORPHA:847 OMIM:309580 ORPHA:709 OMIM:261540 OMIM:619762 OMIM:615995 OMIM:615982 OMIM:615983 OMIM:615986 OMIM:300106 ORPHA:3329 ORPHA:93396 OMIM:112600 OMIM:607932 OMIM:609441 ORPHA:2098 ORPHA:93384 OMIM:616849 ORPHA:2639 OMIM:614078 OMIM:163950 ORPHA:1777 OMIM:218340 OMIM:618522 OMIM:251450 ORPHA:1606 ORPHA:648 ORPHA:7 OMIM:619123 OMIM:211380 ORPHA:474 OMIM:236500 ORPHA:138 ORPHA:233 OMIM:612001 OMIM:618167 ORPHA:263463 OMIM:143095 OMIM:605282 ORPHA:363417 OMIM:612651 ORPHA:3303 ORPHA:440354 ORPHA:2021 ORPHA:1427 OMIM:132450 ORPHA:166011 OMIM:151210 OMIM:184250 OMIM:271700 ORPHA:1856 OMIM:619248 OMIM:177170 ORPHA:750 ORPHA:2754 OMIM:277170 OMIM:615789 OMIM:618870 OMIM:617062 ORPHA:397715 OMIM:265800 ORPHA:763 OMIM:300354 ORPHA:166035 OMIM:250410 OMIM:223360 OMIM:616459 ORPHA:819 ORPHA:818 OMIM:616589 OMIM:617604 OMIM:618027 OMIM:620062 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:223800 OMIM:613091 OMIM:615503 OMIM:615633 OMIM:617088 OMIM:617405 ORPHA:1520 OMIM:304110 OMIM:610253 OMIM:614257 OMIM:617180 ORPHA:3103 OMIM:268300 OMIM:193530 OMIM:617763 ORPHA:502 OMIM:617425 ORPHA:508533 OMIM:602361 OMIM:259775 ORPHA:969 OMIM:608328 OMIM:619777 OMIM:618914 OMIM:305400 ORPHA:3237 ORPHA:2645 OMIM:614592 ORPHA:313855 ORPHA:794 OMIM:101400 OMIM:100800 ORPHA:15 ORPHA:93262 OMIM:146000 ORPHA:429 ORPHA:35099 OMIM:602849 ORPHA:1860 ORPHA:93274 OMIM:187601 OMIM:300244 ORPHA:88630 ORPHA:1190 OMIM:108720 ORPHA:503 OMIM:272460 OMIM:612938 OMIM:190685 ORPHA:968 ORPHA:63442 OMIM:615072 OMIM:113100 OMIM:228900 OMIM:610017 ORPHA:3250 OMIM:617898 ORPHA:633 ORPHA:317 ORPHA:2710 OMIM:164200 OMIM:612474 ORPHA:672 ORPHA:2762 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 OMIM:612463 ORPHA:79445 OMIM:619503 OMIM:301026 OMIM:250220 ORPHA:96182 OMIM:180860 ORPHA:1001 OMIM:620072 OMIM:600092 OMIM:620073 OMIM:140000 OMIM:176305 ORPHA:93387 OMIM:113200 OMIM:113300 OMIM:610713 ORPHA:93409 OMIM:186300 OMIM:186000 ORPHA:79414 OMIM:309590 OMIM:616007 ORPHA:1515 OMIM:218330 OMIM:615630 OMIM:614099 OMIM:617866 OMIM:617102 OMIM:617927 OMIM:611263 OMIM:617895 OMIM:607778 OMIM:112500 ORPHA:559 ORPHA:2746 OMIM:616268 ORPHA:457193 OMIM:606170 OMIM:170390 OMIM:618381 ORPHA:477993 OMIM:300534 OMIM:300867 OMIM:619479 ORPHA:261323 OMIM:200990 ORPHA:3339 OMIM:215140 ORPHA:1426 OMIM:618019 OMIM:601559 ORPHA:235 OMIM:610140 ORPHA:168796 ORPHA:1458 OMIM:619451 OMIM:614819 OMIM:617809 OMIM:615994 ORPHA:1275 OMIM:601088 OMIM:615547 OMIM:157800 ORPHA:3238 OMIM:619692 OMIM:618392 ORPHA:776 ORPHA:65759 OMIM:614976 ORPHA:79329 OMIM:618618 ORPHA:391646 ORPHA:2473 OMIM:610498 OMIM:604757 ORPHA:391641 ORPHA:1358 ORPHA:508542 OMIM:614800 OMIM:263520 OMIM:618853 ORPHA:319675 ORPHA:1451 ORPHA:140908 OMIM:186500 OMIM:186570 OMIM:616028 ORPHA:955 ORPHA:40 ORPHA:1507 OMIM:618529 OMIM:311200 ORPHA:2750 ORPHA:2209 OMIM:612847 OMIM:148820 ORPHA:2637 OMIM:210720 OMIM:608940 ORPHA:85167 ORPHA:1276 OMIM:112410 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:601812 ORPHA:443811 OMIM:618879 ORPHA:280633 OMIM:618143 ORPHA:3163 OMIM:186550 OMIM:618961 ORPHA:570 ORPHA:2377 OMIM:614813 OMIM:616364 OMIM:618048 OMIM:617396 ORPHA:95699 OMIM:305600 OMIM:617450 ORPHA:2701 OMIM:618265 OMIM:619143 OMIM:101800 OMIM:619680 OMIM:617157 ORPHA:464288 OMIM:109400 ORPHA:377 ORPHA:2658 OMIM:600002 OMIM:613382 ORPHA:508488 OMIM:201000 OMIM:614701 OMIM:182290 ORPHA:1587 OMIM:251255 ORPHA:436245 OMIM:618727 OMIM:613075 ORPHA:217335 OMIM:300978 OMIM:607095 OMIM:226960 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:113000 OMIM:268310 ORPHA:192 ORPHA:457395 OMIM:119600 ORPHA:1452 OMIM:156510 OMIM:620107 OMIM:619184 ORPHA:137834 ORPHA:240 OMIM:618162 ORPHA:94065 OMIM:613406 ORPHA:56304 OMIM:226900 ORPHA:93307 ORPHA:168577 OMIM:266265 OMIM:269250 OMIM:248300 OMIM:139210 ORPHA:2588 OMIM:601358 ORPHA:3051 OMIM:617475 OMIM:300590 OMIM:610759 OMIM:619995 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:275900 ORPHA:1519 OMIM:619312 ORPHA:2044 OMIM:136140 OMIM:614261 OMIM:618950 ORPHA:93333 ORPHA:921 OMIM:615314 OMIM:258860 ORPHA:488642 ORPHA:46627 OMIM:610168 OMIM:618050 OMIM:602152 OMIM:618435 ORPHA:93357 OMIM:617061 OMIM:184260 OMIM:190351 OMIM:606835 ORPHA:85169 OMIM:156530 ORPHA:93314 OMIM:613819 OMIM:209885 ORPHA:466950 OMIM:614376 OMIM:613610 OMIM:614091 ORPHA:247768 OMIM:602531 OMIM:618659
 

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