Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limbs (HP:0040064)help
Parent Node:
expand
Abnormality of the upper limb (HP:0002817)help
..Starting node
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Duplication of bones involving the upper extremities (HP:0009142)help
Term ID: 9142
Name: Duplication of bones involving the upper extremities
Synonym: Duplication of bones involving the upper extremities
Definition:
Comments:
Reference: HP:0009142
Genes and Diseases:
 
       Child Nodes:
........expandDuplication of hand bones (HP:0004275) help
................... HP:0004232 Accessory carpal bones
................... HP:0009997 Duplication of phalanx of hand

 Sister Nodes: 
..expandAbnormal arm span (HP:0012769) help
..expandAbnormal forearm morphology (HP:0002973) help
..expandAbnormal upper limb bone morphology (HP:0040070) help
..expandAbnormal upper limb metaphysis morphology (HP:0009809) help
..expandAbnormality of the hand (HP:0001155) help
..expandAbnormality of the musculature of the upper limbs (HP:0001446) help
..expandAbnormality of the upper arm (HP:0001454) help
..expandAbnormality of upper limb epiphysis morphology (HP:0003839) help
..expandAbnormality of upper limb joint (HP:0009810) help
..expandAmniotic constriction rings of arms (HP:0010483) help
..expandAnomaly of the upper limb diaphyses (HP:0009808) help
..expandAplasia/hypoplasia involving bones of the upper limbs (HP:0006496) help
..expandAreflexia of upper limbs (HP:0012046) help
..expandBowing of the arm (HP:0006488) help
..expandDistal upper limb muscle weakness (HP:0008959) help
..expandEdema of the upper limbs (HP:0010742) help
..expandHypertrophy of the upper limb (HP:0010484) help
..expandHyporeflexia of upper limbs (HP:0012391) help
..expandUpper limb asymmetry (HP:0100560) 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:0009142HP:0009142Duplication of bones involving the upper extremities0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0009142HP:0009142Duplication of bones involving the upper extremities0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0009142HP:0009142Duplication of bones involving the upper extremities0AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 219
HP:0009142HP:0009142Duplication of bones involving the upper extremities0AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome19
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0009142HP:0009142Duplication of bones involving the upper extremities0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0009142HP:0009142Duplication of bones involving the upper extremities0B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0009142HP:0009142Duplication of bones involving the upper extremities0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0009142HP:0009142Duplication of bones involving the upper extremities0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndrome4
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0009142HP:0009142Duplication of bones involving the upper extremities0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0009142Duplication of bones involving the upper extremities0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defect247
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 311
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP120 CL E G H15324126690ORPHA:474Jeune syndrome7
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defect342
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0009142HP:0009142Duplication of bones involving the upper extremities0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndrome304
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndrome7
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0009142HP:0009142Duplication of bones involving the upper extremities0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009142HP:0009142Duplication of bones involving the upper extremities0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0009142HP:0009142Duplication of bones involving the upper extremities0FLNB CL E G H23173755ORPHA:503Larsen syndrome233
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe type52
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type52
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndrome270
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1270
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GLI3 CL E G H27374319OMIM:174700Polydactyly, preaxial IV270
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HEATR3 CL E G H5502726087OMIM:620072
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias11
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0009142HP:0009142Duplication of bones involving the upper extremities0HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT140 CL E G H974229077ORPHA:474Jeune syndrome148
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT172 CL E G H2616030391ORPHA:474Jeune syndrome48
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 265
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT80 CL E G H5756029262ORPHA:474Jeune syndrome65
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0009142HP:0009142Duplication of bones involving the upper extremities0INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0009142HP:0009142Duplication of bones involving the upper extremities0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0009142HP:0009142Duplication of bones involving the upper extremities0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0009142HP:0009142Duplication of bones involving the upper extremities0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0009142HP:0009142Duplication of bones involving the upper extremities0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009142HP:0009142Duplication of bones involving the upper extremities0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009142HP:0009142Duplication of bones involving the upper extremities0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndrome167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndrome106
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome106
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LMBR1 CL E G H6432713243ORPHA:93405Syndactyly type 4106
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0009142HP:0009142Duplication of bones involving the upper extremities0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndrome13
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome69
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndrome69
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0009142HP:0009142Duplication of bones involving the upper extremities0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0009142HP:0009142Duplication of bones involving the upper extremities0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0009142HP:0009142Duplication of bones involving the upper extremities0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0009142HP:0009142Duplication of bones involving the upper extremities0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0009142HP:0009142Duplication of bones involving the upper extremities0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome12
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndrome103
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0009142HP:0009142Duplication of bones involving the upper extremities0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0009142HP:0009142Duplication of bones involving the upper extremities0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndrome31
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0009142Duplication of bones involving the upper extremities0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SALL4 CL E G H5716715924ORPHA:2307IVIC syndrome86
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SCNM1 CL E G H7900523136OMIM:620107
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SHH CL E G H646910848ORPHA:93405Syndactyly type 467
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0009142HP:0009142Duplication of bones involving the upper extremities0SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 2476
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defect39
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defect45
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defect33
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defect82
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TTC21B CL E G H7980925660ORPHA:474Jeune syndrome132
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0009142HP:0009142Duplication of bones involving the upper extremities0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T2
HP:0009142HP:0009142Duplication of bones involving the upper extremities0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WDR19 CL E G H5772818340ORPHA:474Jeune syndrome95
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009142HP:0009142Duplication of bones involving the upper extremities0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A63
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defect49
HP:0009142HP:0009142Duplication of bones involving the upper extremities0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0009142HP:0004275Duplication of hand bones1ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0009142HP:0004275Duplication of hand bones1ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0009142HP:0004275Duplication of hand bones1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0009142HP:0004275Duplication of hand bones1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0009142HP:0004275Duplication of hand bones1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0004275Duplication of hand bones1AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0009142HP:0004275Duplication of hand bones1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0009142HP:0004275Duplication of hand bones1AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 219
HP:0009142HP:0004275Duplication of hand bones1AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome19
HP:0009142HP:0004275Duplication of hand bones1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009142HP:0004275Duplication of hand bones1ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0009142HP:0004275Duplication of hand bones1ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0009142HP:0004275Duplication of hand bones1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0009142HP:0004275Duplication of hand bones1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009142HP:0004275Duplication of hand bones1ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0009142HP:0004275Duplication of hand bones1ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0009142HP:0004275Duplication of hand bones1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0009142HP:0004275Duplication of hand bones1B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0009142HP:0004275Duplication of hand bones1B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0009142HP:0004275Duplication of hand bones1B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0009142HP:0004275Duplication of hand bones1B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0009142HP:0004275Duplication of hand bones1B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009142HP:0004275Duplication of hand bones1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0004275Duplication of hand bones1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0009142HP:0004275Duplication of hand bones1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009142HP:0004275Duplication of hand bones1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0009142HP:0004275Duplication of hand bones1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0009142HP:0004275Duplication of hand bones1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0009142HP:0004275Duplication of hand bones1BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0009142HP:0004275Duplication of hand bones1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0009142HP:0004275Duplication of hand bones1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0009142HP:0004275Duplication of hand bones1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0009142HP:0004275Duplication of hand bones1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0009142HP:0004275Duplication of hand bones1BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0009142HP:0004275Duplication of hand bones1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009142HP:0004275Duplication of hand bones1BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndrome4
HP:0009142HP:0004275Duplication of hand bones1BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009142HP:0004275Duplication of hand bones1BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0009142HP:0004275Duplication of hand bones1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0004275Duplication of hand bones1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0009142HP:0004275Duplication of hand bones1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0004275Duplication of hand bones1CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0009142HP:0004275Duplication of hand bones1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0009142HP:0004275Duplication of hand bones1CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defect247
HP:0009142HP:0004275Duplication of hand bones1CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0009142HP:0004275Duplication of hand bones1CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0009142HP:0004275Duplication of hand bones1CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0009142HP:0004275Duplication of hand bones1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009142HP:0004275Duplication of hand bones1CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 311
HP:0009142HP:0004275Duplication of hand bones1CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11
HP:0009142HP:0004275Duplication of hand bones1CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009142HP:0004275Duplication of hand bones1CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009142HP:0004275Duplication of hand bones1CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0009142HP:0004275Duplication of hand bones1CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0009142HP:0004275Duplication of hand bones1CEP120 CL E G H15324126690ORPHA:474Jeune syndrome7
HP:0009142HP:0004275Duplication of hand bones1CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0009142HP:0004275Duplication of hand bones1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0009142HP:0004275Duplication of hand bones1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0004275Duplication of hand bones1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0009142HP:0004275Duplication of hand bones1CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defect342
HP:0009142HP:0004275Duplication of hand bones1CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0009142HP:0004275Duplication of hand bones1CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0009142HP:0004275Duplication of hand bones1CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0009142HP:0004275Duplication of hand bones1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0009142HP:0004275Duplication of hand bones1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0004275Duplication of hand bones1CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0009142HP:0004275Duplication of hand bones1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0009142HP:0004275Duplication of hand bones1CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0009142HP:0004275Duplication of hand bones1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0004275Duplication of hand bones1CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0009142HP:0004275Duplication of hand bones1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0009142HP:0004275Duplication of hand bones1CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0009142HP:0004275Duplication of hand bones1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0009142HP:0004275Duplication of hand bones1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009142HP:0004275Duplication of hand bones1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0009142HP:0004275Duplication of hand bones1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0009142HP:0004275Duplication of hand bones1CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0009142HP:0004275Duplication of hand bones1CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0009142HP:0004275Duplication of hand bones1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0004275Duplication of hand bones1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0004275Duplication of hand bones1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009142HP:0004275Duplication of hand bones1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0009142HP:0004275Duplication of hand bones1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0009142HP:0004275Duplication of hand bones1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009142HP:0004275Duplication of hand bones1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009142HP:0004275Duplication of hand bones1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009142HP:0004275Duplication of hand bones1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009142HP:0004275Duplication of hand bones1DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0009142HP:0004275Duplication of hand bones1DYNC2H1 CL E G H796592962ORPHA:474Jeune syndrome304
HP:0009142HP:0004275Duplication of hand bones1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0009142HP:0004275Duplication of hand bones1DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndrome
HP:0009142HP:0004275Duplication of hand bones1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0004275Duplication of hand bones1DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndrome
HP:0009142HP:0004275Duplication of hand bones1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0004275Duplication of hand bones1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0009142HP:0004275Duplication of hand bones1DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndrome7
HP:0009142HP:0004275Duplication of hand bones1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0009142HP:0004275Duplication of hand bones1DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0009142HP:0004275Duplication of hand bones1EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0009142HP:0004275Duplication of hand bones1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009142HP:0004275Duplication of hand bones1EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0009142HP:0004275Duplication of hand bones1EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0009142HP:0004275Duplication of hand bones1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009142HP:0004275Duplication of hand bones1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009142HP:0004275Duplication of hand bones1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0009142HP:0004275Duplication of hand bones1EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0009142HP:0004275Duplication of hand bones1EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009142HP:0004275Duplication of hand bones1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009142HP:0004275Duplication of hand bones1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0009142HP:0004275Duplication of hand bones1EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0009142HP:0004275Duplication of hand bones1EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009142HP:0004275Duplication of hand bones1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0009142HP:0004275Duplication of hand bones1FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0009142HP:0004275Duplication of hand bones1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0009142HP:0004275Duplication of hand bones1FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0009142HP:0004275Duplication of hand bones1FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0009142HP:0004275Duplication of hand bones1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0009142HP:0004275Duplication of hand bones1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0004275Duplication of hand bones1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0009142HP:0004275Duplication of hand bones1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0004275Duplication of hand bones1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0004275Duplication of hand bones1FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0009142HP:0004275Duplication of hand bones1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0004275Duplication of hand bones1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0004275Duplication of hand bones1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0004275Duplication of hand bones1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0004275Duplication of hand bones1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0004275Duplication of hand bones1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0009142HP:0004275Duplication of hand bones1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0009142HP:0004275Duplication of hand bones1FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009142HP:0004275Duplication of hand bones1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0009142HP:0004275Duplication of hand bones1FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009142HP:0004275Duplication of hand bones1FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0009142HP:0004275Duplication of hand bones1FLNB CL E G H23173755ORPHA:503Larsen syndrome233
HP:0009142HP:0004275Duplication of hand bones1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0009142HP:0004275Duplication of hand bones1GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe type52
HP:0009142HP:0004275Duplication of hand bones1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0004275Duplication of hand bones1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009142HP:0004275Duplication of hand bones1GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type52
HP:0009142HP:0004275Duplication of hand bones1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009142HP:0004275Duplication of hand bones1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009142HP:0004275Duplication of hand bones1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009142HP:0004275Duplication of hand bones1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0009142HP:0004275Duplication of hand bones1GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I1
HP:0009142HP:0004275Duplication of hand bones1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0009142HP:0004275Duplication of hand bones1GLI3 CL E G H27374319ORPHA:36Acrocallosal syndrome270
HP:0009142HP:0004275Duplication of hand bones1GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0004275Duplication of hand bones1GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0004275Duplication of hand bones1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0009142HP:0004275Duplication of hand bones1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0009142HP:0004275Duplication of hand bones1GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1270
HP:0009142HP:0004275Duplication of hand bones1GLI3 CL E G H27374319OMIM:174700Polydactyly, preaxial IV270
HP:0009142HP:0004275Duplication of hand bones1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0009142HP:0004275Duplication of hand bones1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009142HP:0004275Duplication of hand bones1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0009142HP:0004275Duplication of hand bones1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009142HP:0004275Duplication of hand bones1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0009142HP:0004275Duplication of hand bones1HEATR3 CL E G H5502726087OMIM:620072
HP:0009142HP:0004275Duplication of hand bones1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0009142HP:0004275Duplication of hand bones1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0009142HP:0004275Duplication of hand bones1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009142HP:0004275Duplication of hand bones1HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias11
HP:0009142HP:0004275Duplication of hand bones1HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009142HP:0004275Duplication of hand bones1HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0009142HP:0004275Duplication of hand bones1HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0009142HP:0004275Duplication of hand bones1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0009142HP:0004275Duplication of hand bones1HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0009142HP:0004275Duplication of hand bones1IFT140 CL E G H974229077ORPHA:474Jeune syndrome148
HP:0009142HP:0004275Duplication of hand bones1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009142HP:0004275Duplication of hand bones1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0009142HP:0004275Duplication of hand bones1IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0009142HP:0004275Duplication of hand bones1IFT172 CL E G H2616030391ORPHA:474Jeune syndrome48
HP:0009142HP:0004275Duplication of hand bones1IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0009142HP:0004275Duplication of hand bones1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0004275Duplication of hand bones1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0009142HP:0004275Duplication of hand bones1IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 265
HP:0009142HP:0004275Duplication of hand bones1IFT80 CL E G H5756029262ORPHA:474Jeune syndrome65
HP:0009142HP:0004275Duplication of hand bones1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0009142HP:0004275Duplication of hand bones1INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0009142HP:0004275Duplication of hand bones1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0009142HP:0004275Duplication of hand bones1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0009142HP:0004275Duplication of hand bones1INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0009142HP:0004275Duplication of hand bones1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009142HP:0004275Duplication of hand bones1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009142HP:0004275Duplication of hand bones1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0009142HP:0004275Duplication of hand bones1KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0009142HP:0004275Duplication of hand bones1KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0009142HP:0004275Duplication of hand bones1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0009142HP:0004275Duplication of hand bones1KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0009142HP:0004275Duplication of hand bones1KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndrome167
HP:0009142HP:0004275Duplication of hand bones1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0004275Duplication of hand bones1KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0009142HP:0004275Duplication of hand bones1KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0009142HP:0004275Duplication of hand bones1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0009142HP:0004275Duplication of hand bones1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009142HP:0004275Duplication of hand bones1LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0009142HP:0004275Duplication of hand bones1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0004275Duplication of hand bones1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0004275Duplication of hand bones1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0009142HP:0004275Duplication of hand bones1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0009142HP:0004275Duplication of hand bones1LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndrome106
HP:0009142HP:0004275Duplication of hand bones1LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome106
HP:0009142HP:0004275Duplication of hand bones1LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0004275Duplication of hand bones1LMBR1 CL E G H6432713243ORPHA:93405Syndactyly type 4106
HP:0009142HP:0004275Duplication of hand bones1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0009142HP:0004275Duplication of hand bones1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0009142HP:0004275Duplication of hand bones1MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0009142HP:0004275Duplication of hand bones1MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly2
HP:0009142HP:0004275Duplication of hand bones1MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0009142HP:0004275Duplication of hand bones1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0009142HP:0004275Duplication of hand bones1MEGF8 CL E G H19543233ORPHA:65759Carpenter syndrome13
HP:0009142HP:0004275Duplication of hand bones1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009142HP:0004275Duplication of hand bones1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0009142HP:0004275Duplication of hand bones1MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome69
HP:0009142HP:0004275Duplication of hand bones1MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndrome69
HP:0009142HP:0004275Duplication of hand bones1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0009142HP:0004275Duplication of hand bones1MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0009142HP:0004275Duplication of hand bones1MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0009142HP:0004275Duplication of hand bones1MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0009142HP:0004275Duplication of hand bones1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009142HP:0004275Duplication of hand bones1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009142HP:0004275Duplication of hand bones1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0009142HP:0004275Duplication of hand bones1NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0009142HP:0004275Duplication of hand bones1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0009142HP:0004275Duplication of hand bones1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0009142HP:0004275Duplication of hand bones1NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0009142HP:0004275Duplication of hand bones1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0009142HP:0004275Duplication of hand bones1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0009142HP:0004275Duplication of hand bones1NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0009142HP:0004275Duplication of hand bones1NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0009142HP:0004275Duplication of hand bones1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0009142HP:0004275Duplication of hand bones1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0009142HP:0004275Duplication of hand bones1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009142HP:0004275Duplication of hand bones1PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0004275Duplication of hand bones1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0009142HP:0004275Duplication of hand bones1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0009142HP:0004275Duplication of hand bones1PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0009142HP:0004275Duplication of hand bones1PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0009142HP:0004275Duplication of hand bones1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0009142HP:0004275Duplication of hand bones1PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0009142HP:0004275Duplication of hand bones1PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome12
HP:0009142HP:0004275Duplication of hand bones1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0009142HP:0004275Duplication of hand bones1PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndrome103
HP:0009142HP:0004275Duplication of hand bones1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0009142HP:0004275Duplication of hand bones1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0009142HP:0004275Duplication of hand bones1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0009142HP:0004275Duplication of hand bones1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0004275Duplication of hand bones1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0009142HP:0004275Duplication of hand bones1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009142HP:0004275Duplication of hand bones1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0009142HP:0004275Duplication of hand bones1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0009142HP:0004275Duplication of hand bones1PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0009142HP:0004275Duplication of hand bones1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009142HP:0004275Duplication of hand bones1RAB23 CL E G H5171514263ORPHA:65759Carpenter syndrome31
HP:0009142HP:0004275Duplication of hand bones1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0004275Duplication of hand bones1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009142HP:0004275Duplication of hand bones1RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0009142HP:0004275Duplication of hand bones1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0004275Duplication of hand bones1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009142HP:0004275Duplication of hand bones1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0009142HP:0004275Duplication of hand bones1RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0009142HP:0004275Duplication of hand bones1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0009142HP:0004275Duplication of hand bones1RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0009142HP:0004275Duplication of hand bones1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0009142HP:0004275Duplication of hand bones1RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0009142HP:0004275Duplication of hand bones1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0004275Duplication of hand bones1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0004275Duplication of hand bones1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0004275Duplication of hand bones1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0004275Duplication of hand bones1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0004275Duplication of hand bones1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0004275Duplication of hand bones1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0004275Duplication of hand bones1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0009142HP:0004275Duplication of hand bones1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0009142HP:0004275Duplication of hand bones1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0009142HP:0004275Duplication of hand bones1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0004275Duplication of hand bones1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0009142HP:0004275Duplication of hand bones1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0009142HP:0004275Duplication of hand bones1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0009142HP:0004275Duplication of hand bones1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0004275Duplication of hand bones1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0004275Duplication of hand bones1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0004275Duplication of hand bones1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0004275Duplication of hand bones1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0004275Duplication of hand bones1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0004275Duplication of hand bones1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0004275Duplication of hand bones1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0004275Duplication of hand bones1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009142HP:0004275Duplication of hand bones1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0009142HP:0004275Duplication of hand bones1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009142HP:0004275Duplication of hand bones1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0009142HP:0004275Duplication of hand bones1SALL4 CL E G H5716715924ORPHA:2307IVIC syndrome86
HP:0009142HP:0004275Duplication of hand bones1SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0009142HP:0004275Duplication of hand bones1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0009142HP:0004275Duplication of hand bones1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0004275Duplication of hand bones1SCNM1 CL E G H7900523136OMIM:620107
HP:0009142HP:0004275Duplication of hand bones1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0009142HP:0004275Duplication of hand bones1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0004275Duplication of hand bones1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0009142HP:0004275Duplication of hand bones1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0009142HP:0004275Duplication of hand bones1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0009142HP:0004275Duplication of hand bones1SHH CL E G H646910848ORPHA:93405Syndactyly type 467
HP:0009142HP:0004275Duplication of hand bones1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009142HP:0004275Duplication of hand bones1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0009142HP:0004275Duplication of hand bones1SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0009142HP:0004275Duplication of hand bones1SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0009142HP:0004275Duplication of hand bones1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0009142HP:0004275Duplication of hand bones1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009142HP:0004275Duplication of hand bones1SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0009142HP:0004275Duplication of hand bones1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0009142HP:0004275Duplication of hand bones1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0009142HP:0004275Duplication of hand bones1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009142HP:0004275Duplication of hand bones1TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009142HP:0004275Duplication of hand bones1TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0009142HP:0004275Duplication of hand bones1TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0009142HP:0004275Duplication of hand bones1TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0009142HP:0004275Duplication of hand bones1TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 2476
HP:0009142HP:0004275Duplication of hand bones1TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0009142HP:0004275Duplication of hand bones1TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0009142HP:0004275Duplication of hand bones1TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0009142HP:0004275Duplication of hand bones1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0009142HP:0004275Duplication of hand bones1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0009142HP:0004275Duplication of hand bones1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0009142HP:0004275Duplication of hand bones1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009142HP:0004275Duplication of hand bones1TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009142HP:0004275Duplication of hand bones1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0009142HP:0004275Duplication of hand bones1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0009142HP:0004275Duplication of hand bones1TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0009142HP:0004275Duplication of hand bones1TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0009142HP:0004275Duplication of hand bones1TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defect39
HP:0009142HP:0004275Duplication of hand bones1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0009142HP:0004275Duplication of hand bones1TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defect45
HP:0009142HP:0004275Duplication of hand bones1TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0009142HP:0004275Duplication of hand bones1TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0009142HP:0004275Duplication of hand bones1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0009142HP:0004275Duplication of hand bones1TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0009142HP:0004275Duplication of hand bones1TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defect33
HP:0009142HP:0004275Duplication of hand bones1TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0009142HP:0004275Duplication of hand bones1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0009142HP:0004275Duplication of hand bones1TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0009142HP:0004275Duplication of hand bones1TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defect82
HP:0009142HP:0004275Duplication of hand bones1TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0009142HP:0004275Duplication of hand bones1TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0009142HP:0004275Duplication of hand bones1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0009142HP:0004275Duplication of hand bones1TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0009142HP:0004275Duplication of hand bones1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0009142HP:0004275Duplication of hand bones1TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0009142HP:0004275Duplication of hand bones1TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0009142HP:0004275Duplication of hand bones1TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0009142HP:0004275Duplication of hand bones1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0009142HP:0004275Duplication of hand bones1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0009142HP:0004275Duplication of hand bones1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0004275Duplication of hand bones1TTC21B CL E G H7980925660ORPHA:474Jeune syndrome132
HP:0009142HP:0004275Duplication of hand bones1TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0009142HP:0004275Duplication of hand bones1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0004275Duplication of hand bones1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0009142HP:0004275Duplication of hand bones1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0009142HP:0004275Duplication of hand bones1UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T2
HP:0009142HP:0004275Duplication of hand bones1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0004275Duplication of hand bones1WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0009142HP:0004275Duplication of hand bones1WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0009142HP:0004275Duplication of hand bones1WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0009142HP:0004275Duplication of hand bones1WDR19 CL E G H5772818340ORPHA:474Jeune syndrome95
HP:0009142HP:0004275Duplication of hand bones1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0009142HP:0004275Duplication of hand bones1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0009142HP:0004275Duplication of hand bones1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009142HP:0004275Duplication of hand bones1WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009142HP:0004275Duplication of hand bones1ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0009142HP:0004275Duplication of hand bones1ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A63
HP:0009142HP:0004275Duplication of hand bones1ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defect49
HP:0009142HP:0004275Duplication of hand bones1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0009142HP:0009997Duplication of phalanx of hand2ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0009142HP:0009997Duplication of phalanx of hand2ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0009142HP:0009997Duplication of phalanx of hand2ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0009142HP:0009997Duplication of phalanx of hand2ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0009142HP:0009997Duplication of phalanx of hand2ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009997Duplication of phalanx of hand2AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0009142HP:0009997Duplication of phalanx of hand2AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0009142HP:0009997Duplication of phalanx of hand2AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 219
HP:0009142HP:0009997Duplication of phalanx of hand2AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome19
HP:0009142HP:0009997Duplication of phalanx of hand2ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009142HP:0009997Duplication of phalanx of hand2ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0009142HP:0009997Duplication of phalanx of hand2ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0009142HP:0009997Duplication of phalanx of hand2ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009142HP:0009997Duplication of phalanx of hand2ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0009142HP:0009997Duplication of phalanx of hand2ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0009142HP:0009997Duplication of phalanx of hand2B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0009142HP:0009997Duplication of phalanx of hand2B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0009142HP:0009997Duplication of phalanx of hand2B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0009142HP:0009997Duplication of phalanx of hand2B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009142HP:0009997Duplication of phalanx of hand2BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0009142HP:0009997Duplication of phalanx of hand2BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009142HP:0009997Duplication of phalanx of hand2BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0009142HP:0009997Duplication of phalanx of hand2BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0009142HP:0009997Duplication of phalanx of hand2BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0009142HP:0009997Duplication of phalanx of hand2BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0009142HP:0009997Duplication of phalanx of hand2BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0009142HP:0009997Duplication of phalanx of hand2BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0009142HP:0009997Duplication of phalanx of hand2BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0009142HP:0009997Duplication of phalanx of hand2BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0009142HP:0009997Duplication of phalanx of hand2BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0009142HP:0009997Duplication of phalanx of hand2BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009142HP:0009997Duplication of phalanx of hand2BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndrome4
HP:0009142HP:0009997Duplication of phalanx of hand2BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0009142HP:0009997Duplication of phalanx of hand2BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0009142HP:0009997Duplication of phalanx of hand2BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0009997Duplication of phalanx of hand2C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0009142HP:0009997Duplication of phalanx of hand2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0009997Duplication of phalanx of hand2CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0009142HP:0009997Duplication of phalanx of hand2CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defect247
HP:0009142HP:0009997Duplication of phalanx of hand2CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0009142HP:0009997Duplication of phalanx of hand2CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0009142HP:0009997Duplication of phalanx of hand2CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0009142HP:0009997Duplication of phalanx of hand2CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009142HP:0009997Duplication of phalanx of hand2CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 311
HP:0009142HP:0009997Duplication of phalanx of hand2CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11
HP:0009142HP:0009997Duplication of phalanx of hand2CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009142HP:0009997Duplication of phalanx of hand2CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0009142HP:0009997Duplication of phalanx of hand2CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0009142HP:0009997Duplication of phalanx of hand2CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0009142HP:0009997Duplication of phalanx of hand2CEP120 CL E G H15324126690ORPHA:474Jeune syndrome7
HP:0009142HP:0009997Duplication of phalanx of hand2CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0009142HP:0009997Duplication of phalanx of hand2CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0009142HP:0009997Duplication of phalanx of hand2CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0009142HP:0009997Duplication of phalanx of hand2CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defect342
HP:0009142HP:0009997Duplication of phalanx of hand2CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0009142HP:0009997Duplication of phalanx of hand2CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0009142HP:0009997Duplication of phalanx of hand2CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0009142HP:0009997Duplication of phalanx of hand2CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0009142HP:0009997Duplication of phalanx of hand2CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0009142HP:0009997Duplication of phalanx of hand2CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0009142HP:0009997Duplication of phalanx of hand2CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0009142HP:0009997Duplication of phalanx of hand2CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009997Duplication of phalanx of hand2CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0009142HP:0009997Duplication of phalanx of hand2COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0009142HP:0009997Duplication of phalanx of hand2CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0009142HP:0009997Duplication of phalanx of hand2CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009142HP:0009997Duplication of phalanx of hand2CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0009142HP:0009997Duplication of phalanx of hand2CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0009142HP:0009997Duplication of phalanx of hand2CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0009142HP:0009997Duplication of phalanx of hand2DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0009142HP:0009997Duplication of phalanx of hand2DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0009142HP:0009997Duplication of phalanx of hand2DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009142HP:0009997Duplication of phalanx of hand2DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009142HP:0009997Duplication of phalanx of hand2DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0009142HP:0009997Duplication of phalanx of hand2DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2H1 CL E G H796592962ORPHA:474Jeune syndrome304
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndrome7
HP:0009142HP:0009997Duplication of phalanx of hand2DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0009142HP:0009997Duplication of phalanx of hand2DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0009142HP:0009997Duplication of phalanx of hand2EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0009142HP:0009997Duplication of phalanx of hand2EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0009142HP:0009997Duplication of phalanx of hand2EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0009142HP:0009997Duplication of phalanx of hand2EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0009142HP:0009997Duplication of phalanx of hand2ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009142HP:0009997Duplication of phalanx of hand2EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009142HP:0009997Duplication of phalanx of hand2EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0009142HP:0009997Duplication of phalanx of hand2EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0009142HP:0009997Duplication of phalanx of hand2EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009142HP:0009997Duplication of phalanx of hand2EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009142HP:0009997Duplication of phalanx of hand2EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0009142HP:0009997Duplication of phalanx of hand2EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0009142HP:0009997Duplication of phalanx of hand2EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009142HP:0009997Duplication of phalanx of hand2EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0009142HP:0009997Duplication of phalanx of hand2FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0009142HP:0009997Duplication of phalanx of hand2FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0009142HP:0009997Duplication of phalanx of hand2FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0009142HP:0009997Duplication of phalanx of hand2FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0009142HP:0009997Duplication of phalanx of hand2FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0009142HP:0009997Duplication of phalanx of hand2FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009997Duplication of phalanx of hand2FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0009142HP:0009997Duplication of phalanx of hand2FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0009997Duplication of phalanx of hand2FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0009997Duplication of phalanx of hand2FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0009142HP:0009997Duplication of phalanx of hand2FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0009997Duplication of phalanx of hand2FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0009997Duplication of phalanx of hand2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009997Duplication of phalanx of hand2FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0009997Duplication of phalanx of hand2FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0009997Duplication of phalanx of hand2FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0009142HP:0009997Duplication of phalanx of hand2FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0009142HP:0004232Accessory carpal bones2FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0009142HP:0009997Duplication of phalanx of hand2FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009142HP:0004232Accessory carpal bones2FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040282 - Frequent233
HP:0009142HP:0004232Accessory carpal bones2FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0009142HP:0009997Duplication of phalanx of hand2GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0009142HP:0009997Duplication of phalanx of hand2GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe type52
HP:0009142HP:0009997Duplication of phalanx of hand2GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0009997Duplication of phalanx of hand2GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009142HP:0009997Duplication of phalanx of hand2GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type52
HP:0009142HP:0009997Duplication of phalanx of hand2GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0009142HP:0009997Duplication of phalanx of hand2GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009142HP:0009997Duplication of phalanx of hand2GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009142HP:0009997Duplication of phalanx of hand2GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I1
HP:0009142HP:0009997Duplication of phalanx of hand2GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0009142HP:0009997Duplication of phalanx of hand2GLI3 CL E G H27374319ORPHA:36Acrocallosal syndrome270
HP:0009142HP:0009997Duplication of phalanx of hand2GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0009997Duplication of phalanx of hand2GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0009997Duplication of phalanx of hand2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0009142HP:0009997Duplication of phalanx of hand2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0009142HP:0009997Duplication of phalanx of hand2GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1270
HP:0009142HP:0009997Duplication of phalanx of hand2GLI3 CL E G H27374319OMIM:174700Polydactyly, preaxial IV270
HP:0009142HP:0009997Duplication of phalanx of hand2GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0009142HP:0009997Duplication of phalanx of hand2GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009142HP:0009997Duplication of phalanx of hand2GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0009142HP:0009997Duplication of phalanx of hand2GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0009142HP:0009997Duplication of phalanx of hand2HEATR3 CL E G H5502726087OMIM:620072
HP:0009142HP:0009997Duplication of phalanx of hand2HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0009142HP:0009997Duplication of phalanx of hand2HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0009142HP:0009997Duplication of phalanx of hand2HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009142HP:0009997Duplication of phalanx of hand2HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias11
HP:0009142HP:0009997Duplication of phalanx of hand2HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009142HP:0009997Duplication of phalanx of hand2HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0009142HP:0009997Duplication of phalanx of hand2HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0009142HP:0009997Duplication of phalanx of hand2HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0009142HP:0009997Duplication of phalanx of hand2HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0009142HP:0009997Duplication of phalanx of hand2IFT140 CL E G H974229077ORPHA:474Jeune syndrome148
HP:0009142HP:0009997Duplication of phalanx of hand2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009142HP:0009997Duplication of phalanx of hand2IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0009142HP:0009997Duplication of phalanx of hand2IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0009142HP:0009997Duplication of phalanx of hand2IFT172 CL E G H2616030391ORPHA:474Jeune syndrome48
HP:0009142HP:0009997Duplication of phalanx of hand2IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0009142HP:0009997Duplication of phalanx of hand2IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0009997Duplication of phalanx of hand2IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0009142HP:0009997Duplication of phalanx of hand2IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 265
HP:0009142HP:0009997Duplication of phalanx of hand2IFT80 CL E G H5756029262ORPHA:474Jeune syndrome65
HP:0009142HP:0009997Duplication of phalanx of hand2IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0009142HP:0009997Duplication of phalanx of hand2INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0009142HP:0009997Duplication of phalanx of hand2INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0009142HP:0009997Duplication of phalanx of hand2INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0009142HP:0009997Duplication of phalanx of hand2INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0009142HP:0009997Duplication of phalanx of hand2INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009142HP:0009997Duplication of phalanx of hand2IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0009142HP:0009997Duplication of phalanx of hand2JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0009142HP:0009997Duplication of phalanx of hand2KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0009142HP:0009997Duplication of phalanx of hand2KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0009142HP:0009997Duplication of phalanx of hand2KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndrome167
HP:0009142HP:0009997Duplication of phalanx of hand2KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0009997Duplication of phalanx of hand2KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0009142HP:0009997Duplication of phalanx of hand2KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0009142HP:0009997Duplication of phalanx of hand2KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0009142HP:0009997Duplication of phalanx of hand2LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009142HP:0009997Duplication of phalanx of hand2LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0009142HP:0009997Duplication of phalanx of hand2LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0009142HP:0009997Duplication of phalanx of hand2LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0009142HP:0009997Duplication of phalanx of hand2LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndrome106
HP:0009142HP:0009997Duplication of phalanx of hand2LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome106
HP:0009142HP:0009997Duplication of phalanx of hand2LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0009997Duplication of phalanx of hand2LMBR1 CL E G H6432713243ORPHA:93405Syndactyly type 4106
HP:0009142HP:0009997Duplication of phalanx of hand2LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0009142HP:0009997Duplication of phalanx of hand2LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0009142HP:0009997Duplication of phalanx of hand2MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0009142HP:0009997Duplication of phalanx of hand2MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly2
HP:0009142HP:0009997Duplication of phalanx of hand2MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0009142HP:0009997Duplication of phalanx of hand2MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0009142HP:0009997Duplication of phalanx of hand2MEGF8 CL E G H19543233ORPHA:65759Carpenter syndrome13
HP:0009142HP:0009997Duplication of phalanx of hand2MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009142HP:0009997Duplication of phalanx of hand2MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0009142HP:0009997Duplication of phalanx of hand2MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndrome69
HP:0009142HP:0009997Duplication of phalanx of hand2MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome69
HP:0009142HP:0009997Duplication of phalanx of hand2MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0009142HP:0009997Duplication of phalanx of hand2MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0009142HP:0009997Duplication of phalanx of hand2MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0009142HP:0009997Duplication of phalanx of hand2MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0009142HP:0009997Duplication of phalanx of hand2MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009142HP:0009997Duplication of phalanx of hand2NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009142HP:0009997Duplication of phalanx of hand2NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0009142HP:0009997Duplication of phalanx of hand2NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0009142HP:0009997Duplication of phalanx of hand2NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0009142HP:0009997Duplication of phalanx of hand2NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0009142HP:0009997Duplication of phalanx of hand2NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0009142HP:0009997Duplication of phalanx of hand2NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0009142HP:0009997Duplication of phalanx of hand2NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0009142HP:0009997Duplication of phalanx of hand2NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0009142HP:0009997Duplication of phalanx of hand2OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0009142HP:0009997Duplication of phalanx of hand2OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0009142HP:0009997Duplication of phalanx of hand2OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009142HP:0009997Duplication of phalanx of hand2PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0009997Duplication of phalanx of hand2PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0009142HP:0009997Duplication of phalanx of hand2PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0009142HP:0009997Duplication of phalanx of hand2PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0009142HP:0009997Duplication of phalanx of hand2PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0009142HP:0009997Duplication of phalanx of hand2PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0009142HP:0009997Duplication of phalanx of hand2PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome162
HP:0009142HP:0009997Duplication of phalanx of hand2PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome12
HP:0009142HP:0009997Duplication of phalanx of hand2PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0009142HP:0009997Duplication of phalanx of hand2PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndrome103
HP:0009142HP:0009997Duplication of phalanx of hand2PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0009142HP:0009997Duplication of phalanx of hand2PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0009142HP:0009997Duplication of phalanx of hand2POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0009142HP:0009997Duplication of phalanx of hand2PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0009997Duplication of phalanx of hand2PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009142HP:0009997Duplication of phalanx of hand2PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0009142HP:0009997Duplication of phalanx of hand2PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0009142HP:0009997Duplication of phalanx of hand2PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0009142HP:0009997Duplication of phalanx of hand2RAB23 CL E G H5171514263ORPHA:65759Carpenter syndrome31
HP:0009142HP:0009997Duplication of phalanx of hand2RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0009997Duplication of phalanx of hand2RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0009142HP:0009997Duplication of phalanx of hand2RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0009142HP:0009997Duplication of phalanx of hand2RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0009997Duplication of phalanx of hand2ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0009142HP:0009997Duplication of phalanx of hand2RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0009142HP:0009997Duplication of phalanx of hand2RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0009142HP:0009997Duplication of phalanx of hand2RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0009142HP:0009997Duplication of phalanx of hand2RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0009142HP:0009997Duplication of phalanx of hand2RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0009142HP:0009997Duplication of phalanx of hand2RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0009142HP:0009997Duplication of phalanx of hand2RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009997Duplication of phalanx of hand2RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009997Duplication of phalanx of hand2RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009997Duplication of phalanx of hand2RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009997Duplication of phalanx of hand2RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009997Duplication of phalanx of hand2RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009997Duplication of phalanx of hand2RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009997Duplication of phalanx of hand2RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0009142HP:0009997Duplication of phalanx of hand2RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0009142HP:0009997Duplication of phalanx of hand2RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0009142HP:0009997Duplication of phalanx of hand2RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009997Duplication of phalanx of hand2RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0009142HP:0009997Duplication of phalanx of hand2RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0009142HP:0009997Duplication of phalanx of hand2RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0009142HP:0009997Duplication of phalanx of hand2RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009997Duplication of phalanx of hand2RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009997Duplication of phalanx of hand2RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0009997Duplication of phalanx of hand2RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009997Duplication of phalanx of hand2RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009997Duplication of phalanx of hand2RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009997Duplication of phalanx of hand2RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0009997Duplication of phalanx of hand2RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009142HP:0009997Duplication of phalanx of hand2SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0009142HP:0009997Duplication of phalanx of hand2SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009142HP:0009997Duplication of phalanx of hand2SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0009142HP:0009997Duplication of phalanx of hand2SALL4 CL E G H5716715924ORPHA:2307IVIC syndrome86
HP:0009142HP:0009997Duplication of phalanx of hand2SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0009142HP:0009997Duplication of phalanx of hand2SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0009142HP:0009997Duplication of phalanx of hand2SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2SCNM1 CL E G H7900523136OMIM:620107
HP:0009142HP:0009997Duplication of phalanx of hand2SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0009142HP:0009997Duplication of phalanx of hand2SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0009142HP:0009997Duplication of phalanx of hand2SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0009142HP:0009997Duplication of phalanx of hand2SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2SHH CL E G H646910848ORPHA:93405Syndactyly type 467
HP:0009142HP:0009997Duplication of phalanx of hand2SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009142HP:0009997Duplication of phalanx of hand2SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0009142HP:0009997Duplication of phalanx of hand2SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0009142HP:0009997Duplication of phalanx of hand2SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0009142HP:0009997Duplication of phalanx of hand2SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0009142HP:0009997Duplication of phalanx of hand2SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009142HP:0009997Duplication of phalanx of hand2SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0009142HP:0009997Duplication of phalanx of hand2TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0009142HP:0009997Duplication of phalanx of hand2TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009142HP:0009997Duplication of phalanx of hand2TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0009142HP:0009997Duplication of phalanx of hand2TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 2476
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0009142HP:0009997Duplication of phalanx of hand2TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0009142HP:0009997Duplication of phalanx of hand2TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0009142HP:0009997Duplication of phalanx of hand2TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009142HP:0009997Duplication of phalanx of hand2TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0009142HP:0009997Duplication of phalanx of hand2TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0009142HP:0009997Duplication of phalanx of hand2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defect39
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defect45
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defect33
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defect82
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0009142HP:0009997Duplication of phalanx of hand2TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0009142HP:0009997Duplication of phalanx of hand2TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0009142HP:0009997Duplication of phalanx of hand2TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0009142HP:0009997Duplication of phalanx of hand2TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009997Duplication of phalanx of hand2TTC21B CL E G H7980925660ORPHA:474Jeune syndrome132
HP:0009142HP:0009997Duplication of phalanx of hand2TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0009142HP:0009997Duplication of phalanx of hand2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009997Duplication of phalanx of hand2TXNDC15 CL E G H7977020652OMIM:6198792
HP:0009142HP:0009997Duplication of phalanx of hand2TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0009142HP:0009997Duplication of phalanx of hand2UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T2
HP:0009142HP:0009997Duplication of phalanx of hand2UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0009142HP:0009997Duplication of phalanx of hand2WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0009142HP:0009997Duplication of phalanx of hand2WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0009142HP:0009997Duplication of phalanx of hand2WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0009142HP:0009997Duplication of phalanx of hand2WDR19 CL E G H5772818340ORPHA:474Jeune syndrome95
HP:0009142HP:0009997Duplication of phalanx of hand2WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0009142HP:0009997Duplication of phalanx of hand2WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0009142HP:0009997Duplication of phalanx of hand2WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0009142HP:0009997Duplication of phalanx of hand2WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009142HP:0009997Duplication of phalanx of hand2ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0009142HP:0009997Duplication of phalanx of hand2ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A63
HP:0009142HP:0009997Duplication of phalanx of hand2ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defect49
HP:0009142HP:0009997Duplication of phalanx of hand2ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0009142HP:0004249Accessory lunate3 CL E G H
HP:0009142HP:0004244Accessory scaphoid3 CL E G H
HP:0009142HP:0009985Duplication of phalanx of 5th finger3 CL E G H
HP:0009142HP:0001161Hand polydactyly3ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040283 - Occasional130
HP:0009142HP:0001161Hand polydactyly3ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040283 - Occasional120
HP:0009142HP:0009942Duplication of thumb phalanx3ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0009142HP:0009942Duplication of thumb phalanx3ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0009142HP:0009999Partial duplication of the phalanx of hand3ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009942Duplication of thumb phalanx3ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0001161Hand polydactyly3AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0009142HP:0001161Hand polydactyly3AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0009142HP:0001161Hand polydactyly3AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 219
HP:0009142HP:0001161Hand polydactyly3AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome19
HP:0009142HP:0001161Hand polydactyly3ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0009142HP:0001161Hand polydactyly3ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0009142HP:0001161Hand polydactyly3ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0009142HP:0001161Hand polydactyly3ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0009142HP:0001161Hand polydactyly3ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009142HP:0001161Hand polydactyly3ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0009142HP:0001161Hand polydactyly3ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0009142HP:0001161Hand polydactyly3B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0009142HP:0001161Hand polydactyly3B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0009142HP:0001161Hand polydactyly3B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0009142HP:0001161Hand polydactyly3B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0009142HP:0001161Hand polydactyly3B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009142HP:0001161Hand polydactyly3BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0001161Hand polydactyly3BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0009142HP:0001161Hand polydactyly3BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009142HP:0001161Hand polydactyly3BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0009142HP:0001161Hand polydactyly3BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0009142HP:0001161Hand polydactyly3BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0009142HP:0001161Hand polydactyly3BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0009142HP:0001161Hand polydactyly3BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0009142HP:0001161Hand polydactyly3BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0009142HP:0001161Hand polydactyly3BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0009142HP:0001161Hand polydactyly3BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0009142HP:0001161Hand polydactyly3BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0009142HP:0009998Complete duplication of phalanx of hand3BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009142HP:0009942Duplication of thumb phalanx3BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0009142HP:0001161Hand polydactyly3BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndrome4
HP:0009142HP:0001161Hand polydactyly3BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0009142HP:0001161Hand polydactyly3BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0009142HP:0009942Duplication of thumb phalanx3BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0009998Complete duplication of phalanx of hand3BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0009883Duplication of the distal phalanx of hand3BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0001161Hand polydactyly3C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0009142HP:0009883Duplication of the distal phalanx of hand3CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0009999Partial duplication of the phalanx of hand3CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0009942Duplication of thumb phalanx3CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0001161Hand polydactyly3CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0009142HP:0001161Hand polydactyly3CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0009142HP:0001161Hand polydactyly3CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional247
HP:0009142HP:0001161Hand polydactyly3CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0009142HP:0001161Hand polydactyly3CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6HP:0040281 - Very frequentHP:0003577 - Congenital onset247
HP:0009142HP:0001161Hand polydactyly3CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0009142HP:0001161Hand polydactyly3CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009142HP:0001161Hand polydactyly3CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 311
HP:0009142HP:0001161Hand polydactyly3CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome11
HP:0009142HP:0001161Hand polydactyly3CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0009142HP:0001161Hand polydactyly3CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0009142HP:0001161Hand polydactyly3CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0009142HP:0001161Hand polydactyly3CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0009142HP:0001161Hand polydactyly3CEP120 CL E G H15324126690ORPHA:474Jeune syndrome7
HP:0009142HP:0001161Hand polydactyly3CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0009142HP:0001161Hand polydactyly3CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0009142HP:0001161Hand polydactyly3CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0001161Hand polydactyly3CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0009142HP:0001161Hand polydactyly3CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional342
HP:0009142HP:0001161Hand polydactyly3CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0009142HP:0001161Hand polydactyly3CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0009142HP:0001161Hand polydactyly3CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0009142HP:0001161Hand polydactyly3CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0009142HP:0001161Hand polydactyly3CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0001161Hand polydactyly3CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0009142HP:0001161Hand polydactyly3CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0009142HP:0001161Hand polydactyly3CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0009142HP:0009942Duplication of thumb phalanx3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040281 - Very frequent16
HP:0009142HP:0009998Complete duplication of phalanx of hand3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0010006Duplication of the proximal phalanx of hand3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0001161Hand polydactyly3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0010008Duplication of the middle phalanx of hand3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009999Partial duplication of the phalanx of hand3CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0001161Hand polydactyly3CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0009142HP:0001161Hand polydactyly3COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0009142HP:0001161Hand polydactyly3CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009142HP:0001161Hand polydactyly3CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0009142HP:0001161Hand polydactyly3CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0009142HP:0001161Hand polydactyly3CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0009142HP:0001161Hand polydactyly3CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0009142HP:0001161Hand polydactyly3CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0001161Hand polydactyly3CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0009942Duplication of thumb phalanx3DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009142HP:0001161Hand polydactyly3DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009142HP:0009999Partial duplication of the phalanx of hand3DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0009142HP:0001161Hand polydactyly3DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 52
HP:0009142HP:0001161Hand polydactyly3DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0009142HP:0001161Hand polydactyly3DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional33
HP:0009142HP:0001161Hand polydactyly3DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009142HP:0001161Hand polydactyly3DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0009142HP:0009883Duplication of the distal phalanx of hand3DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0009142HP:0009942Duplication of thumb phalanx3DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0009142HP:0009999Partial duplication of the phalanx of hand3DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0009142HP:0001161Hand polydactyly3DYNC2H1 CL E G H796592962ORPHA:474Jeune syndrome304
HP:0009142HP:0001161Hand polydactyly3DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0009142HP:0001161Hand polydactyly3DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndrome
HP:0009142HP:0001161Hand polydactyly3DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0001161Hand polydactyly3DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndrome
HP:0009142HP:0001161Hand polydactyly3DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0009142HP:0001161Hand polydactyly3DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0009142HP:0001161Hand polydactyly3DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndrome7
HP:0009142HP:0001161Hand polydactyly3DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0009142HP:0001161Hand polydactyly3DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0009142HP:0001161Hand polydactyly3EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0009142HP:0001161Hand polydactyly3EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0009142HP:0001161Hand polydactyly3EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0009142HP:0001161Hand polydactyly3EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0009142HP:0009942Duplication of thumb phalanx3ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009142HP:0009998Complete duplication of phalanx of hand3ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0009142HP:0001161Hand polydactyly3EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0009142HP:0001161Hand polydactyly3EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0009142HP:0001161Hand polydactyly3EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome209
HP:0009142HP:0001161Hand polydactyly3EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0009142HP:0001161Hand polydactyly3EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0009142HP:0001161Hand polydactyly3EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0009142HP:0001161Hand polydactyly3EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome137
HP:0009142HP:0001161Hand polydactyly3EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0009142HP:0001161Hand polydactyly3EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0009142HP:0001161Hand polydactyly3FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0009142HP:0001161Hand polydactyly3FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0009142HP:0009942Duplication of thumb phalanx3FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0009142HP:0009998Complete duplication of phalanx of hand3FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0009142HP:0001161Hand polydactyly3FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked.58
HP:0009142HP:0009942Duplication of thumb phalanx3FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0009142HP:0009998Complete duplication of phalanx of hand3FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0009142HP:0001161Hand polydactyly3FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009942Duplication of thumb phalanx3FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009999Partial duplication of the phalanx of hand3FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009998Complete duplication of phalanx of hand3FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009998Complete duplication of phalanx of hand3FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0009142HP:0009942Duplication of thumb phalanx3FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0009142HP:0009942Duplication of thumb phalanx3FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0009942Duplication of thumb phalanx3FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0009142HP:0009999Partial duplication of the phalanx of hand3FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0009142HP:0001161Hand polydactyly3FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0009142HP:0009942Duplication of thumb phalanx3FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0009142HP:0009942Duplication of thumb phalanx3FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0009999Partial duplication of the phalanx of hand3FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0009142HP:0001161Hand polydactyly3FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009999Partial duplication of the phalanx of hand3FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009883Duplication of the distal phalanx of hand3FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009999Partial duplication of the phalanx of hand3FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0009942Duplication of thumb phalanx3FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0009142HP:0009942Duplication of thumb phalanx3FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0009142HP:0001161Hand polydactyly3FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0009142HP:0001161Hand polydactyly3FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0009142HP:0001161Hand polydactyly3FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II493
HP:0009142HP:0009942Duplication of thumb phalanx3GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0009142HP:0009999Partial duplication of the phalanx of hand3GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0009142HP:0001161Hand polydactyly3GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe type52
HP:0009142HP:0009883Duplication of the distal phalanx of hand3GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0009998Complete duplication of phalanx of hand3GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0009942Duplication of thumb phalanx3GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0001161Hand polydactyly3GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009142HP:0001161Hand polydactyly3GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type52
HP:0009142HP:0001161Hand polydactyly3GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0009142HP:0009942Duplication of thumb phalanx3GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009142HP:0009942Duplication of thumb phalanx3GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009142HP:0001161Hand polydactyly3GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0009142HP:0009999Partial duplication of the phalanx of hand3GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I1
HP:0009142HP:0009942Duplication of thumb phalanx3GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I1
HP:0009142HP:0001161Hand polydactyly3GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I1
HP:0009142HP:0001161Hand polydactyly3GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0009142HP:0001161Hand polydactyly3GLI3 CL E G H27374319ORPHA:36Acrocallosal syndrome270
HP:0009142HP:0001161Hand polydactyly3GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0001161Hand polydactyly3GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0001161Hand polydactyly3GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0009142HP:0001161Hand polydactyly3GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0009142HP:0001161Hand polydactyly3GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1270
HP:0009142HP:0009942Duplication of thumb phalanx3GLI3 CL E G H27374319OMIM:174700Polydactyly, preaxial IV.270
HP:0009142HP:0001161Hand polydactyly3GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0009142HP:0001161Hand polydactyly3GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009142HP:0001161Hand polydactyly3GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0009142HP:0001161Hand polydactyly3GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009142HP:0001161Hand polydactyly3GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0009142HP:0001161Hand polydactyly3HEATR3 CL E G H5502726087OMIM:620072
HP:0009142HP:0001161Hand polydactyly3HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0009142HP:0001161Hand polydactyly3HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0009142HP:0001161Hand polydactyly3HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0009142HP:0001161Hand polydactyly3HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias11
HP:0009142HP:0001161Hand polydactyly3HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 125
HP:0009142HP:0001161Hand polydactyly3HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER association25
HP:0009142HP:0001161Hand polydactyly3HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0009142HP:0001161Hand polydactyly3HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0009142HP:0001161Hand polydactyly3HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0009142HP:0001161Hand polydactyly3IFT140 CL E G H974229077ORPHA:474Jeune syndrome148
HP:0009142HP:0001161Hand polydactyly3IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009142HP:0001161Hand polydactyly3IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0009142HP:0001161Hand polydactyly3IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0009142HP:0001161Hand polydactyly3IFT172 CL E G H2616030391ORPHA:474Jeune syndrome48
HP:0009142HP:0001161Hand polydactyly3IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0009142HP:0001161Hand polydactyly3IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0009142HP:0001161Hand polydactyly3IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0009142HP:0001161Hand polydactyly3IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 265
HP:0009142HP:0001161Hand polydactyly3IFT80 CL E G H5756029262ORPHA:474Jeune syndrome65
HP:0009142HP:0001161Hand polydactyly3IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0009142HP:0001161Hand polydactyly3INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0009142HP:0001161Hand polydactyly3INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0009142HP:0001161Hand polydactyly3INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0009142HP:0001161Hand polydactyly3INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0009142HP:0009942Duplication of thumb phalanx3INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009142HP:0009999Partial duplication of the phalanx of hand3INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009142HP:0001161Hand polydactyly3IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional119
HP:0009142HP:0001161Hand polydactyly3JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0009142HP:0001161Hand polydactyly3KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0009142HP:0001161Hand polydactyly3KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0009142HP:0001161Hand polydactyly3KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0009142HP:0009999Partial duplication of the phalanx of hand3KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0009883Duplication of the distal phalanx of hand3KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0001161Hand polydactyly3KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndrome167
HP:0009142HP:0009942Duplication of thumb phalanx3KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0001161Hand polydactyly3KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0001161Hand polydactyly3KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0009142HP:0001161Hand polydactyly3KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0009142HP:0001161Hand polydactyly3KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0009142HP:0001161Hand polydactyly3LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009142HP:0009883Duplication of the distal phalanx of hand3LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0009142HP:0009998Complete duplication of phalanx of hand3LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosis68
HP:0009142HP:0001161Hand polydactyly3LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0009142HP:0001161Hand polydactyly3LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0001161Hand polydactyly3LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0009142HP:0001161Hand polydactyly3LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0009142HP:0001161Hand polydactyly3LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome.106
HP:0009142HP:0001161Hand polydactyly3LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndrome106
HP:0009142HP:0009883Duplication of the distal phalanx of hand3LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0009942Duplication of thumb phalanx3LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial IIHP:0040281 - Very frequent106
HP:0009142HP:0001161Hand polydactyly3LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0009998Complete duplication of phalanx of hand3LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0001161Hand polydactyly3LMBR1 CL E G H6432713243ORPHA:93405Syndactyly type 4HP:0040281 - Very frequent106
HP:0009142HP:0001161Hand polydactyly3LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0009142HP:0001161Hand polydactyly3LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0009142HP:0001161Hand polydactyly3MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0009142HP:0001161Hand polydactyly3MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly2
HP:0009142HP:0001161Hand polydactyly3MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0009142HP:0001161Hand polydactyly3MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0009142HP:0001161Hand polydactyly3MEGF8 CL E G H19543233ORPHA:65759Carpenter syndrome13
HP:0009142HP:0001161Hand polydactyly3MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009142HP:0001161Hand polydactyly3MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0009142HP:0001161Hand polydactyly3MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome69
HP:0009142HP:0001161Hand polydactyly3MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndrome69
HP:0009142HP:0001161Hand polydactyly3MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0009142HP:0001161Hand polydactyly3MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0009142HP:0001161Hand polydactyly3MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0009142HP:0001161Hand polydactyly3MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0009142HP:0001161Hand polydactyly3MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009142HP:0009942Duplication of thumb phalanx3NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009142HP:0009998Complete duplication of phalanx of hand3NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0009142HP:0001161Hand polydactyly3NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0009142HP:0001161Hand polydactyly3NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0009142HP:0001161Hand polydactyly3NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0009142HP:0001161Hand polydactyly3NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0009142HP:0001161Hand polydactyly3NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0009142HP:0001161Hand polydactyly3NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0009142HP:0001161Hand polydactyly3NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0009142HP:0009999Partial duplication of the phalanx of hand3NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0009142HP:0009942Duplication of thumb phalanx3NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0009142HP:0009999Partial duplication of the phalanx of hand3NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0009142HP:0009942Duplication of thumb phalanx3NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0009142HP:0001161Hand polydactyly3OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040282 - Frequent201
HP:0009142HP:0001161Hand polydactyly3OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0009142HP:0001161Hand polydactyly3OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009142HP:0009999Partial duplication of the phalanx of hand3PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0009942Duplication of thumb phalanx3PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0009883Duplication of the distal phalanx of hand3PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0001161Hand polydactyly3PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0009142HP:0001161Hand polydactyly3PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0009142HP:0001161Hand polydactyly3PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0009142HP:0001161Hand polydactyly3PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0009142HP:0001161Hand polydactyly3PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0009142HP:0001161Hand polydactyly3PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040281 - Very frequent162
HP:0009142HP:0001161Hand polydactyly3PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome12
HP:0009142HP:0001161Hand polydactyly3PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0009142HP:0001161Hand polydactyly3PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040281 - Very frequent103
HP:0009142HP:0001161Hand polydactyly3PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0009142HP:0001161Hand polydactyly3PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0009142HP:0001161Hand polydactyly3POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0009142HP:0009999Partial duplication of the phalanx of hand3PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0009883Duplication of the distal phalanx of hand3PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0009942Duplication of thumb phalanx3PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0001161Hand polydactyly3PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0009142HP:0001161Hand polydactyly3PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009142HP:0001161Hand polydactyly3PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0009142HP:0001161Hand polydactyly3PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0009142HP:0001161Hand polydactyly3PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040281 - Very frequent948
HP:0009142HP:0001161Hand polydactyly3PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0009142HP:0001161Hand polydactyly3RAB23 CL E G H5171514263ORPHA:65759Carpenter syndrome31
HP:0009142HP:0009942Duplication of thumb phalanx3RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0009998Complete duplication of phalanx of hand3RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0001161Hand polydactyly3RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0010008Duplication of the middle phalanx of hand3RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0001161Hand polydactyly3RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional150
HP:0009142HP:0001161Hand polydactyly3RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0010006Duplication of the proximal phalanx of hand3RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0009883Duplication of the distal phalanx of hand3ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0009142HP:0001161Hand polydactyly3RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0009142HP:0001161Hand polydactyly3RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7167
HP:0009142HP:0001161Hand polydactyly3RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0009142HP:0001161Hand polydactyly3RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0009142HP:0001161Hand polydactyly3RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0009142HP:0001161Hand polydactyly3RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009942Duplication of thumb phalanx3RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009942Duplication of thumb phalanx3RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009942Duplication of thumb phalanx3RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009942Duplication of thumb phalanx3RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009942Duplication of thumb phalanx3RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009942Duplication of thumb phalanx3RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009942Duplication of thumb phalanx3RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009942Duplication of thumb phalanx3RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0009142HP:0009942Duplication of thumb phalanx3RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0009142HP:0009942Duplication of thumb phalanx3RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009942Duplication of thumb phalanx3RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0009142HP:0009942Duplication of thumb phalanx3RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0009142HP:0009942Duplication of thumb phalanx3RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0009142HP:0009942Duplication of thumb phalanx3RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009942Duplication of thumb phalanx3RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009942Duplication of thumb phalanx3RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0009142HP:0009942Duplication of thumb phalanx3RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0009942Duplication of thumb phalanx3RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009942Duplication of thumb phalanx3RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009942Duplication of thumb phalanx3RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0009142HP:0009942Duplication of thumb phalanx3RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0009999Partial duplication of the phalanx of hand3RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0009142HP:0001161Hand polydactyly3RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0009142HP:0009999Partial duplication of the phalanx of hand3SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009142HP:0001161Hand polydactyly3SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009142HP:0009942Duplication of thumb phalanx3SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0009142HP:0009999Partial duplication of the phalanx of hand3SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0009142HP:0009942Duplication of thumb phalanx3SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0009142HP:0001161Hand polydactyly3SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0009142HP:0001161Hand polydactyly3SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0009142HP:0001161Hand polydactyly3SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0009142HP:0001161Hand polydactyly3SALL4 CL E G H5716715924ORPHA:2307IVIC syndrome86
HP:0009142HP:0001161Hand polydactyly3SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0009142HP:0001161Hand polydactyly3SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0009142HP:0001161Hand polydactyly3SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0009142HP:0001161Hand polydactyly3SCNM1 CL E G H7900523136OMIM:620107
HP:0009142HP:0001161Hand polydactyly3SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0009142HP:0001161Hand polydactyly3SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0009142HP:0009999Partial duplication of the phalanx of hand3SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0009142HP:0009942Duplication of thumb phalanx3SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0009142HP:0001161Hand polydactyly3SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040284 - Very rare
HP:0009142HP:0001161Hand polydactyly3SHH CL E G H646910848ORPHA:93405Syndactyly type 4HP:0040281 - Very frequent67
HP:0009142HP:0009998Complete duplication of phalanx of hand3SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009142HP:0009942Duplication of thumb phalanx3SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009142HP:0009942Duplication of thumb phalanx3SMO CL E G H660811119OMIM:601707Curry-Jones syndromeHP:0040283 - Occasional22
HP:0009142HP:0001161Hand polydactyly3SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0009142HP:0001161Hand polydactyly3SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0009142HP:0001161Hand polydactyly3SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0009142HP:0001161Hand polydactyly3SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0009142HP:0001161Hand polydactyly3SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0009142HP:0001161Hand polydactyly3SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0009142HP:0001161Hand polydactyly3TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0009142HP:0001161Hand polydactyly3TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0009142HP:0001161Hand polydactyly3TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0009142HP:0009942Duplication of thumb phalanx3TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009142HP:0009999Partial duplication of the phalanx of hand3TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome123
HP:0009142HP:0001161Hand polydactyly3TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0009142HP:0001161Hand polydactyly3TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0009142HP:0001161Hand polydactyly3TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0009142HP:0001161Hand polydactyly3TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 2476
HP:0009142HP:0001161Hand polydactyly3TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0009142HP:0001161Hand polydactyly3TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0009142HP:0001161Hand polydactyly3TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0009142HP:0001161Hand polydactyly3TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0009142HP:0001161Hand polydactyly3TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0009142HP:0001161Hand polydactyly3TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0009142HP:0001161Hand polydactyly3TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0009142HP:0001161Hand polydactyly3TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040283 - Occasional104
HP:0009142HP:0001161Hand polydactyly3TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0009142HP:0001161Hand polydactyly3TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0009142HP:0001161Hand polydactyly3TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0009142HP:0001161Hand polydactyly3TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI4
HP:0009142HP:0001161Hand polydactyly3TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional39
HP:0009142HP:0001161Hand polydactyly3TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0009142HP:0001161Hand polydactyly3TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional45
HP:0009142HP:0001161Hand polydactyly3TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0009142HP:0001161Hand polydactyly3TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0009142HP:0001161Hand polydactyly3TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0009142HP:0001161Hand polydactyly3TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional33
HP:0009142HP:0001161Hand polydactyly3TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0009142HP:0001161Hand polydactyly3TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0009142HP:0001161Hand polydactyly3TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0009142HP:0001161Hand polydactyly3TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional82
HP:0009142HP:0001161Hand polydactyly3TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0009142HP:0001161Hand polydactyly3TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0009142HP:0001161Hand polydactyly3TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0009142HP:0001161Hand polydactyly3TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0009142HP:0001161Hand polydactyly3TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0009142HP:0001161Hand polydactyly3TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0009142HP:0001161Hand polydactyly3TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0009142HP:0001161Hand polydactyly3TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0009142HP:0001161Hand polydactyly3TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0009142HP:0009942Duplication of thumb phalanx3TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0009999Partial duplication of the phalanx of hand3TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0009142HP:0001161Hand polydactyly3TTC21B CL E G H7980925660ORPHA:474Jeune syndrome132
HP:0009142HP:0001161Hand polydactyly3TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0009142HP:0009883Duplication of the distal phalanx of hand3TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0001161Hand polydactyly3TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009999Partial duplication of the phalanx of hand3TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0001161Hand polydactyly3TXNDC15 CL E G H7977020652OMIM:6198792
HP:0009142HP:0001161Hand polydactyly3TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0009142HP:0009942Duplication of thumb phalanx3UBE2T CL E G H2908925009OMIM:616435Fanconi anemia, complementation group T.2
HP:0009142HP:0001161Hand polydactyly3UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0009142HP:0001161Hand polydactyly3WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0009142HP:0001161Hand polydactyly3WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0009142HP:0001161Hand polydactyly3WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0009142HP:0001161Hand polydactyly3WDR19 CL E G H5772818340ORPHA:474Jeune syndrome95
HP:0009142HP:0001161Hand polydactyly3WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0009142HP:0001161Hand polydactyly3WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0009142HP:0009883Duplication of the distal phalanx of hand3WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0009142HP:0001161Hand polydactyly3WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009142HP:0001161Hand polydactyly3ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked.39
HP:0009142HP:0001161Hand polydactyly3ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A63
HP:0009142HP:0001161Hand polydactyly3ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional49
HP:0009142HP:0001161Hand polydactyly3ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0009142HP:0009989Duplication of the middle phalanx of the 5th finger4 CL E G H
HP:0009142HP:0009973Complete duplication of the phalanges of the 4th finger4 CL E G H
HP:0009142HP:0009976Duplication of the middle phalanx of the 4th finger4 CL E G H
HP:0009142HP:0009988Duplication of the distal phalanx of the 5th finger4 CL E G H
HP:0009142HP:0009987Partial duplication of the phalanges of the 5th finger4 CL E G H
HP:0009142HP:0009949Duplication of the middle phalanx of the 2nd finger4 CL E G H
HP:0009142HP:0010690Mirror image hand polydactyly4 CL E G H
HP:0009142HP:0009975Duplication of the distal phalanx of the 4th finger4 CL E G H
HP:0009142HP:0009986Complete duplication of the phalanges of the 5th finger4 CL E G H
HP:0009142HP:0009957Complete duplication of the phalanges of the 2nd finger4 CL E G H
HP:0009142HP:0010005Partial duplication of the middle phalanges of the hand4 CL E G H
HP:0009142HP:0009947Duplication of the proximal phalanx of the 2nd finger4 CL E G H
HP:0009142HP:0010000Complete duplication of the proximal phalanges of the hand4 CL E G H
HP:0009142HP:0009974Partial duplication of the phalanges of the 4th finger4 CL E G H
HP:0009142HP:0009977Duplication of the proximal phalanx of the 4th finger4 CL E G H
HP:0009142HP:0009990Duplication of the proximal phalanx of the 5th finger4 CL E G H
HP:0009142HP:0009944Partial duplication of thumb phalanx4ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009142HP:0001162Postaxial hand polydactyly4AKT3 CL E G H10000393OMIM:615937Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2.19
HP:0009142HP:0001162Postaxial hand polydactyly4AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040281 - Very frequent19
HP:0009142HP:0001162Postaxial hand polydactyly4ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0009142HP:0001162Postaxial hand polydactyly4ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0009142HP:0001162Postaxial hand polydactyly4ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0009142HP:0001162Postaxial hand polydactyly4ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0009142HP:0001162Postaxial hand polydactyly4B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040281 - Very frequent28
HP:0009142HP:0001177Preaxial hand polydactyly4B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0009142HP:0001162Postaxial hand polydactyly4B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040281 - Very frequent34
HP:0009142HP:0001177Preaxial hand polydactyly4B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0009142HP:0001162Postaxial hand polydactyly4B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0009142HP:0001162Postaxial hand polydactyly4BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0009142HP:0001162Postaxial hand polydactyly4BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0009142HP:0001162Postaxial hand polydactyly4BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0009142HP:0001162Postaxial hand polydactyly4BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0009142HP:0001162Postaxial hand polydactyly4BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0009142HP:0001162Postaxial hand polydactyly4BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0009142HP:0001162Postaxial hand polydactyly4BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0009142HP:0001162Postaxial hand polydactyly4BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0009142HP:0001162Postaxial hand polydactyly4BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0009142HP:0001162Postaxial hand polydactyly4BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0009142HP:0001162Postaxial hand polydactyly4BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0009142HP:0001162Postaxial hand polydactyly4BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0009142HP:0009943Complete duplication of thumb phalanx4BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0009142HP:0001162Postaxial hand polydactyly4BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0009142HP:0001177Preaxial hand polydactyly4BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0009142HP:0001162Postaxial hand polydactyly4BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040282 - Frequent90
HP:0009142HP:0010001Complete duplication of the distal phalanges of the hand4BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0009612Duplication of the distal phalanx of the thumb4BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0009943Complete duplication of thumb phalanx4BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009142HP:0001162Postaxial hand polydactyly4C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0009142HP:0009612Duplication of the distal phalanx of the thumb4CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0010004Partial duplication of the distal phalanges of the hand4CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0009944Partial duplication of thumb phalanx4CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0001162Postaxial hand polydactyly4CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0009142HP:0001162Postaxial hand polydactyly4CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040281 - Very frequent247
HP:0009142HP:0001177Preaxial hand polydactyly4CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0009142HP:0001162Postaxial hand polydactyly4CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6.247
HP:0009142HP:0001162Postaxial hand polydactyly4CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0009142HP:0001162Postaxial hand polydactyly4CCND2 CL E G H8941583OMIM:615938Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3.11
HP:0009142HP:0001162Postaxial hand polydactyly4CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040281 - Very frequent11
HP:0009142HP:0001162Postaxial hand polydactyly4CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0009142HP:0001177Preaxial hand polydactyly4CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0009142HP:0001162Postaxial hand polydactyly4CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0009142HP:0001162Postaxial hand polydactyly4CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0009142HP:0001162Postaxial hand polydactyly4CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0009142HP:0001177Preaxial hand polydactyly4CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0009142HP:0001162Postaxial hand polydactyly4CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040281 - Very frequent342
HP:0009142HP:0001162Postaxial hand polydactyly4CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4.342
HP:0009142HP:0001162Postaxial hand polydactyly4CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0009142HP:0001162Postaxial hand polydactyly4CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0009142HP:0001177Preaxial hand polydactyly4CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0009142HP:0009960Complete duplication of the phalanges of the 3rd finger4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009944Partial duplication of thumb phalanx4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009142HP:0009963Duplication of the middle phalanx of the 3rd finger4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0010003Partial duplication of the proximal phalanges of the hand4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009961Partial duplication of the phalanges of the 3rd finger4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009943Complete duplication of thumb phalanx4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0010002Complete duplication of the middle phalanges of the hand4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009613Duplication of the proximal phalanx of the thumb4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0006159Mesoaxial hand polydactyly4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009964Duplication of the proximal phalanx of the 3rd finger4CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0001162Postaxial hand polydactyly4CIBAR1 CL E G H13739230452OMIM:618219POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9
HP:0009142HP:0001162Postaxial hand polydactyly4CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0009142HP:0006159Mesoaxial hand polydactyly4CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0009142HP:0001177Preaxial hand polydactyly4CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0009142HP:0001177Preaxial hand polydactyly4CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0009142HP:0001177Preaxial hand polydactyly4CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0009142HP:0001177Preaxial hand polydactyly4CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0009142HP:0001162Postaxial hand polydactyly4CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040281 - Very frequent57
HP:0009142HP:0001177Preaxial hand polydactyly4CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0009142HP:0001177Preaxial hand polydactyly4CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0009944Partial duplication of thumb phalanx4DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0009142HP:0001177Preaxial hand polydactyly4DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent2
HP:0009142HP:0010441Ectopic accessory finger-like appendage4DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0009142HP:0001162Postaxial hand polydactyly4DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040281 - Very frequent2
HP:0009142HP:0001162Postaxial hand polydactyly4DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V.2
HP:0009142HP:0001162Postaxial hand polydactyly4DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0009142HP:0001162Postaxial hand polydactyly4DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0009142HP:0009944Partial duplication of thumb phalanx4DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040283 - Occasional304
HP:0009142HP:0001177Preaxial hand polydactyly4DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional304
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0009142HP:0001177Preaxial hand polydactyly4DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0009142HP:0001177Preaxial hand polydactyly4DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0009142HP:0001162Postaxial hand polydactyly4DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0009142HP:0001162Postaxial hand polydactyly4DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0009142HP:0001177Preaxial hand polydactyly4EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0009142HP:0001177Preaxial hand polydactyly4EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040282 - Frequent48
HP:0009142HP:0009943Complete duplication of thumb phalanx4ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0009142HP:0001162Postaxial hand polydactyly4EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0009142HP:0001162Postaxial hand polydactyly4EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0009142HP:0001162Postaxial hand polydactyly4EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0009142HP:0001162Postaxial hand polydactyly4EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0009142HP:0001162Postaxial hand polydactyly4EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0009142HP:0001162Postaxial hand polydactyly4EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0009142HP:0001177Preaxial hand polydactyly4EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0009142HP:0006159Mesoaxial hand polydactyly4FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0009142HP:0009943Complete duplication of thumb phalanx4FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0009142HP:0009943Complete duplication of thumb phalanx4FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0009142HP:0009943Complete duplication of thumb phalanx4FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0009142HP:0001177Preaxial hand polydactyly4FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009944Partial duplication of thumb phalanx4FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0009142HP:0009943Complete duplication of thumb phalanx4FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0009142HP:0009944Partial duplication of thumb phalanx4FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0009142HP:0001177Preaxial hand polydactyly4FGFR2 CL E G H22633689OMIM:101200Apert syndromeHP:0040283 - Occasional175
HP:0009142HP:0001162Postaxial hand polydactyly4FGFR2 CL E G H22633689OMIM:101200Apert syndromeHP:0040283 - Occasional175
HP:0009142HP:0009944Partial duplication of thumb phalanx4FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0009142HP:0009961Partial duplication of the phalanges of the 3rd finger4FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0010004Partial duplication of the distal phalanges of the hand4FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009956Partial duplication of the phalanges of the 2nd finger4FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009962Duplication of the distal phalanx of the 3rd finger4FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0006159Mesoaxial hand polydactyly4FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009948Duplication of the distal phalanx of the 2nd finger4FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009944Partial duplication of thumb phalanx4FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0009142HP:0001177Preaxial hand polydactyly4FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0009142HP:0001162Postaxial hand polydactyly4FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0009142HP:0009944Partial duplication of thumb phalanx4GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0009142HP:0001162Postaxial hand polydactyly4GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040282 - Frequent52
HP:0009142HP:0009943Complete duplication of thumb phalanx4GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0010001Complete duplication of the distal phalanges of the hand4GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0009612Duplication of the distal phalanx of the thumb4GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009142HP:0001162Postaxial hand polydactyly4GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0009142HP:0001162Postaxial hand polydactyly4GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0009142HP:0001177Preaxial hand polydactyly4GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0009142HP:0009944Partial duplication of thumb phalanx4GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I.1
HP:0009142HP:0001177Preaxial hand polydactyly4GLI1 CL E G H27354317OMIM:174400Polydactyly, preaxial I.1
HP:0009142HP:0001162Postaxial hand polydactyly4GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0009142HP:0001162Postaxial hand polydactyly4GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent270
HP:0009142HP:0001162Postaxial hand polydactyly4GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040281 - Very frequent270
HP:0009142HP:0001177Preaxial hand polydactyly4GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0001162Postaxial hand polydactyly4GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0009142HP:0001177Preaxial hand polydactyly4GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0009142HP:0001162Postaxial hand polydactyly4GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0009142HP:0001162Postaxial hand polydactyly4GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0009142HP:0006159Mesoaxial hand polydactyly4GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0009142HP:0006159Mesoaxial hand polydactyly4GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0009142HP:0001162Postaxial hand polydactyly4GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1.270
HP:0009142HP:0001162Postaxial hand polydactyly4GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0009142HP:0001162Postaxial hand polydactyly4GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0009142HP:0001162Postaxial hand polydactyly4GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0009142HP:0001162Postaxial hand polydactyly4GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0009142HP:0001177Preaxial hand polydactyly4HEATR3 CL E G H5502726087OMIM:620072
HP:0009142HP:0001162Postaxial hand polydactyly4HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040283 - Occasional11
HP:0009142HP:0001162Postaxial hand polydactyly4HOXA13 CL E G H32095102OMIM:176305Preaxial deficiency, postaxial polydactyly, and hypospadias.11
HP:0009142HP:0006159Mesoaxial hand polydactyly4HOXD13 CL E G H32395136OMIM:186000Synpolydactyly 1.25
HP:0009142HP:0001177Preaxial hand polydactyly4HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0009142HP:0001162Postaxial hand polydactyly4HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040281 - Very frequent31
HP:0009142HP:0001162Postaxial hand polydactyly4HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0009142HP:0001177Preaxial hand polydactyly4HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0009142HP:0001162Postaxial hand polydactyly4IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040283 - Occasional148
HP:0009142HP:0001162Postaxial hand polydactyly4IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0009142HP:0001162Postaxial hand polydactyly4IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0009142HP:0001162Postaxial hand polydactyly4IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0009142HP:0001162Postaxial hand polydactyly4IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040283 - Occasional48
HP:0009142HP:0001162Postaxial hand polydactyly4IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactylyHP:0040283 - Occasional48
HP:0009142HP:0001162Postaxial hand polydactyly4IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0009142HP:0001162Postaxial hand polydactyly4IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0009142HP:0001162Postaxial hand polydactyly4IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0009142HP:0001162Postaxial hand polydactyly4IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040283 - Occasional65
HP:0009142HP:0001177Preaxial hand polydactyly4IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional65
HP:0009142HP:0001162Postaxial hand polydactyly4IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0009142HP:0001162Postaxial hand polydactyly4INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0009142HP:0001162Postaxial hand polydactyly4INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0009142HP:0009944Partial duplication of thumb phalanx4INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009142HP:0001162Postaxial hand polydactyly4KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0009142HP:0001162Postaxial hand polydactyly4KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0001177Preaxial hand polydactyly4KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0001162Postaxial hand polydactyly4KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040281 - Very frequent167
HP:0009142HP:0009612Duplication of the distal phalanx of the thumb4KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0010004Partial duplication of the distal phalanges of the hand4KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0009944Partial duplication of thumb phalanx4KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0009142HP:0001162Postaxial hand polydactyly4KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040281 - Very frequent167
HP:0009142HP:0001162Postaxial hand polydactyly4KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0009142HP:0001162Postaxial hand polydactyly4LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0009142HP:0010001Complete duplication of the distal phalanges of the hand4LEMD3 CL E G H2359228887ORPHA:1879Melorheostosis with osteopoikilosisHP:0040281 - Very frequent68
HP:0009142HP:0001177Preaxial hand polydactyly4LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009142HP:0001177Preaxial hand polydactyly4LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0009142HP:0001177Preaxial hand polydactyly4LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040281 - Very frequent106
HP:0009142HP:0010001Complete duplication of the distal phalanges of the hand4LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0009612Duplication of the distal phalanx of the thumb4LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0001177Preaxial hand polydactyly4LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0001162Postaxial hand polydactyly4LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0009943Complete duplication of thumb phalanx4LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II106
HP:0009142HP:0001162Postaxial hand polydactyly4LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0009142HP:0006159Mesoaxial hand polydactyly4LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0009142HP:0001162Postaxial hand polydactyly4LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0009142HP:0001177Preaxial hand polydactyly4MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0009142HP:0006159Mesoaxial hand polydactyly4MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly2
HP:0009142HP:0001162Postaxial hand polydactyly4MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0009142HP:0001162Postaxial hand polydactyly4MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndromeHP:0040283 - Occasional22
HP:0009142HP:0001162Postaxial hand polydactyly4MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040282 - Frequent13
HP:0009142HP:0001162Postaxial hand polydactyly4MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009142HP:0001162Postaxial hand polydactyly4MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0009142HP:0001162Postaxial hand polydactyly4MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0009142HP:0006159Mesoaxial hand polydactyly4MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0009142HP:0001162Postaxial hand polydactyly4MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040282 - Frequent69
HP:0009142HP:0001162Postaxial hand polydactyly4MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0009142HP:0001177Preaxial hand polydactyly4MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0009142HP:0001162Postaxial hand polydactyly4MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040281 - Very frequent127
HP:0009142HP:0001162Postaxial hand polydactyly4MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009142HP:0009943Complete duplication of thumb phalanx4NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0009142HP:0001162Postaxial hand polydactyly4NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040283 - Occasional101
HP:0009142HP:0001177Preaxial hand polydactyly4NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0009142HP:0001162Postaxial hand polydactyly4NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0009142HP:0001177Preaxial hand polydactyly4NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0009142HP:0001162Postaxial hand polydactyly4NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0009142HP:0001177Preaxial hand polydactyly4NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0009142HP:0001177Preaxial hand polydactyly4NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0009142HP:0009944Partial duplication of thumb phalanx4NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 75
HP:0009142HP:0009944Partial duplication of thumb phalanx4NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0009142HP:0001177Preaxial hand polydactyly4OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0009142HP:0001162Postaxial hand polydactyly4OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0009142HP:0001162Postaxial hand polydactyly4OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009142HP:0009944Partial duplication of thumb phalanx4PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0009612Duplication of the distal phalanx of the thumb4PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0010004Partial duplication of the distal phalanges of the hand4PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0009142HP:0001162Postaxial hand polydactyly4PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0009142HP:0001177Preaxial hand polydactyly4PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040283 - Occasional23
HP:0009142HP:0001177Preaxial hand polydactyly4PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0009142HP:0001162Postaxial hand polydactyly4PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040281 - Very frequent12
HP:0009142HP:0001162Postaxial hand polydactyly4PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0009142HP:0001162Postaxial hand polydactyly4PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0009142HP:0009944Partial duplication of thumb phalanx4PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0009612Duplication of the distal phalanx of the thumb4PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0010004Partial duplication of the distal phalanges of the hand4PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009142HP:0001162Postaxial hand polydactyly4PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0009142HP:0001177Preaxial hand polydactyly4PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0009142HP:0001162Postaxial hand polydactyly4RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040282 - Frequent31
HP:0009142HP:0009943Complete duplication of thumb phalanx4RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0001162Postaxial hand polydactyly4RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0010002Complete duplication of the middle phalanges of the hand4RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0009613Duplication of the proximal phalanx of the thumb4RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0010003Partial duplication of the proximal phalanges of the hand4RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0009609Duplication of the 1st metacarpal4RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0001177Preaxial hand polydactyly4RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0009142HP:0001162Postaxial hand polydactyly4RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040281 - Very frequent109
HP:0009142HP:0001162Postaxial hand polydactyly4RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0009142HP:0001162Postaxial hand polydactyly4RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0009142HP:0001162Postaxial hand polydactyly4RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040281 - Very frequent167
HP:0009142HP:0001177Preaxial hand polydactyly4RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0009142HP:0001162Postaxial hand polydactyly4RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0009142HP:0009944Partial duplication of thumb phalanx4RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0009142HP:0009944Partial duplication of thumb phalanx4SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0009142HP:0001177Preaxial hand polydactyly4SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent124
HP:0009142HP:0001177Preaxial hand polydactyly4SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0009142HP:0009944Partial duplication of thumb phalanx4SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0009142HP:0001177Preaxial hand polydactyly4SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0009142HP:0001177Preaxial hand polydactyly4SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0009142HP:0001177Preaxial hand polydactyly4SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040283 - Occasional86
HP:0009142HP:0001162Postaxial hand polydactyly4SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0009142HP:0001162Postaxial hand polydactyly4SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0009142HP:0001162Postaxial hand polydactyly4SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0009142HP:0001162Postaxial hand polydactyly4SCNM1 CL E G H7900523136OMIM:620107
HP:0009142HP:0001162Postaxial hand polydactyly4SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0009142HP:0001162Postaxial hand polydactyly4SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0009142HP:0009944Partial duplication of thumb phalanx4SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0009142HP:0009943Complete duplication of thumb phalanx4SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0009142HP:0001177Preaxial hand polydactyly4SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040283 - Occasional22
HP:0009142HP:0001177Preaxial hand polydactyly4SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22
HP:0009142HP:0001162Postaxial hand polydactyly4SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0009142HP:0001162Postaxial hand polydactyly4SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0009142HP:0001162Postaxial hand polydactyly4SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0009142HP:0001162Postaxial hand polydactyly4TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0009142HP:0001162Postaxial hand polydactyly4TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0009142HP:0009944Partial duplication of thumb phalanx4TBX5 CL E G H691011604OMIM:142900Holt-Oram syndrome.123
HP:0009142HP:0001177Preaxial hand polydactyly4TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0009142HP:0001162Postaxial hand polydactyly4TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0009142HP:0001162Postaxial hand polydactyly4TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24.76
HP:0009142HP:0001162Postaxial hand polydactyly4TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040281 - Very frequent76
HP:0009142HP:0001177Preaxial hand polydactyly4TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0009142HP:0001177Preaxial hand polydactyly4TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0009142HP:0001162Postaxial hand polydactyly4TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040281 - Very frequent31
HP:0009142HP:0001177Preaxial hand polydactyly4TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0009142HP:0001162Postaxial hand polydactyly4TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0009142HP:0001177Preaxial hand polydactyly4TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0009142HP:0001177Preaxial hand polydactyly4TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0009142HP:0006159Mesoaxial hand polydactyly4TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040282 - Frequent104
HP:0009142HP:0001162Postaxial hand polydactyly4TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0009142HP:0001162Postaxial hand polydactyly4TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040281 - Very frequent4
HP:0009142HP:0001177Preaxial hand polydactyly4TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0009142HP:0001177Preaxial hand polydactyly4TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040281 - Very frequent45
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 2.45
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040281 - Very frequent33
HP:0009142HP:0001177Preaxial hand polydactyly4TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040281 - Very frequent82
HP:0009142HP:0001177Preaxial hand polydactyly4TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0009142HP:0001177Preaxial hand polydactyly4TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040281 - Very frequent166
HP:0009142HP:0001162Postaxial hand polydactyly4TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3.166
HP:0009142HP:0001162Postaxial hand polydactyly4TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0009142HP:0009944Partial duplication of thumb phalanx4TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0009142HP:0001162Postaxial hand polydactyly4TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040283 - Occasional132
HP:0009142HP:0001162Postaxial hand polydactyly4TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent41
HP:0009142HP:0009948Duplication of the distal phalanx of the 2nd finger4TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0010004Partial duplication of the distal phalanges of the hand4TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0006159Mesoaxial hand polydactyly4TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009961Partial duplication of the phalanges of the 3rd finger4TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009956Partial duplication of the phalanges of the 2nd finger4TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009962Duplication of the distal phalanx of the 3rd finger4TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0001162Postaxial hand polydactyly4TXNDC15 CL E G H7977020652OMIM:6198792
HP:0009142HP:0001162Postaxial hand polydactyly4TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040281 - Very frequent2
HP:0009142HP:0001177Preaxial hand polydactyly4TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0009142HP:0001162Postaxial hand polydactyly4WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent60
HP:0009142HP:0001162Postaxial hand polydactyly4WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly.60
HP:0009142HP:0001162Postaxial hand polydactyly4WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040283 - Occasional95
HP:0009142HP:0001162Postaxial hand polydactyly4WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0009142HP:0001177Preaxial hand polydactyly4WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional136
HP:0009142HP:0001162Postaxial hand polydactyly4WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0009142HP:0001162Postaxial hand polydactyly4WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0009142HP:0001162Postaxial hand polydactyly4ZNF141 CL E G H770012926OMIM:615226Polydactyly, postaxial, type A6.3
HP:0009142HP:0001177Preaxial hand polydactyly4ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0009142HP:0009983Partial duplication of the proximal phalanx of the 4th finger5 CL E G H
HP:0009142HP:0009614Bifid proximal phalanx of the thumb5 CL E G H
HP:0009142HP:0009950Complete duplication of the distal phalanx of the 2nd finger5 CL E G H
HP:0009142HP:0009995Partial duplication of the middle phalanx of the 5th finger5 CL E G H
HP:0009142HP:0009954Complete duplication of the proximal phalanx of the 2nd finger5 CL E G H
HP:0009142HP:0005676Rudimentary postaxial polydactyly of hands5 CL E G H
HP:0009142HP:0009965Complete duplication of the distal phalanx of the 3rd finger5 CL E G H
HP:0009142HP:0009979Complete duplication of the middle phalanx of the 4th finger5 CL E G H
HP:0009142HP:0009994Partial duplication of the distal phalanx of the 5th finger5 CL E G H
HP:0009142HP:0009982Partial duplication of the middle phalanx of the 4th finger5 CL E G H
HP:0009142HP:0009993Complete duplication of the proximal phalanx of the 5th finger5 CL E G H
HP:0009142HP:0009953Partial duplication of the middle phalanx of the 2nd finger5 CL E G H
HP:0009142HP:0009978Complete duplication of the distal phalanx of the 4th finger5 CL E G H
HP:0009142HP:0009992Complete duplication of the middle phalanx of the 5th finger5 CL E G H
HP:0009142HP:0009969Partial duplication of the middle phalanx of the 3rd finger5 CL E G H
HP:0009142HP:0009981Partial duplication of the distal phalanx of the 4th finger5 CL E G H
HP:0009142HP:0009991Complete duplication of the distal phalanx of the 5th finger5 CL E G H
HP:0009142HP:0009952Complete duplication of the middle phalanx of the 2nd finger5 CL E G H
HP:0009142HP:0009955Partial duplication of the proximal phalanx of the 2nd finger5 CL E G H
HP:0009142HP:0009615Complete duplication of the first metacarpal5 CL E G H
HP:0009142HP:0009967Complete duplication of the proximal phalanx of the 3rd finger5 CL E G H
HP:0009142HP:0009980Complete duplication of the proximal phalanx of the 4th finger5 CL E G H
HP:0009142HP:0009996Partial duplication of the proximal phalanx of the 5th finger5 CL E G H
HP:0009142HP:0009606Complete duplication of distal phalanx of the thumb5BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040282 - Frequent90
HP:0009142HP:0009611Bifid distal phalanx of the thumb5CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0009142HP:0009966Complete duplication of the middle phalanx of the 3rd finger5CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009142HP:0009970Partial duplication of the proximal phalanx of the 3rd finger5CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009142HP:0009958Polydactyly affecting the 3rd finger5CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009608Complete duplication of proximal phalanx of the thumb5CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009142HP:0009951Partial duplication of the distal phalanx of the 2nd finger5FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009142HP:0009946Polydactyly affecting the 2nd finger5FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009958Polydactyly affecting the 3rd finger5FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009968Partial duplication of the distal phalanx of the 3rd finger5FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009142HP:0009606Complete duplication of distal phalanx of the thumb5GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040282 - Frequent52
HP:0009142HP:0009958Polydactyly affecting the 3rd finger5GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0009142HP:0009971Polydactyly affecting the 4th finger5GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0009142HP:0006136Bilateral postaxial polydactyly5GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0009142HP:0005696Postaxial polydactyly type A5KIAA0825 CL E G H28560028532OMIM:618498Polydactyly, postaxial, type A10
HP:0009142HP:0009611Bifid distal phalanx of the thumb5KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0009142HP:0009606Complete duplication of distal phalanx of the thumb5LMBR1 CL E G H6432713243OMIM:174500Polydactyly, preaxial II.106
HP:0009142HP:0006136Bilateral postaxial polydactyly5MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0009142HP:0009611Bifid distal phalanx of the thumb5PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0009142HP:0009611Bifid distal phalanx of the thumb5PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyHP:0040284 - Very rare
HP:0009142HP:0009608Complete duplication of proximal phalanx of the thumb5RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009142HP:0009616Bifid first metacarpal5RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0009142HP:0009958Polydactyly affecting the 3rd finger5TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009968Partial duplication of the distal phalanx of the 3rd finger5TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0009142HP:0009946Polydactyly affecting the 2nd finger5TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009951Partial duplication of the distal phalanx of the 2nd finger5TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0009142HP:0005696Postaxial polydactyly type A5WDPCP CL E G H5105728027OMIM:217085Congenital heart defects, hamartomas of tongue, and polysyndactyly60
HP:0009142HP:0009972Duplication of phalanx of 4th finger6 CL E G H
HP:0009142HP:0009959Duplication of phalanx of 3rd finger6CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009959Duplication of phalanx of 3rd finger6FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009945Duplication of phalanx of 2nd finger6FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009959Duplication of phalanx of 3rd finger6TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009945Duplication of phalanx of 2nd finger6TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009976Duplication of the middle phalanx of the 4th finger7 CL E G H
HP:0009142HP:0009949Duplication of the middle phalanx of the 2nd finger7 CL E G H
HP:0009142HP:0009975Duplication of the distal phalanx of the 4th finger7 CL E G H
HP:0009142HP:0009957Complete duplication of the phalanges of the 2nd finger7 CL E G H
HP:0009142HP:0009947Duplication of the proximal phalanx of the 2nd finger7 CL E G H
HP:0009142HP:0009974Partial duplication of the phalanges of the 4th finger7 CL E G H
HP:0009142HP:0009977Duplication of the proximal phalanx of the 4th finger7 CL E G H
HP:0009142HP:0009973Complete duplication of the phalanges of the 4th finger7 CL E G H
HP:0009142HP:0009963Duplication of the middle phalanx of the 3rd finger7CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009961Partial duplication of the phalanges of the 3rd finger7CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009964Duplication of the proximal phalanx of the 3rd finger7CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009960Complete duplication of the phalanges of the 3rd finger7CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0009142HP:0009956Partial duplication of the phalanges of the 2nd finger7FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009962Duplication of the distal phalanx of the 3rd finger7FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009948Duplication of the distal phalanx of the 2nd finger7FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009961Partial duplication of the phalanges of the 3rd finger7FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0009142HP:0009961Partial duplication of the phalanges of the 3rd finger7TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009956Partial duplication of the phalanges of the 2nd finger7TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009962Duplication of the distal phalanx of the 3rd finger7TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009948Duplication of the distal phalanx of the 2nd finger7TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0009142HP:0009954Complete duplication of the proximal phalanx of the 2nd finger8 CL E G H
HP:0009142HP:0009965Complete duplication of the distal phalanx of the 3rd finger8 CL E G H
HP:0009142HP:0009979Complete duplication of the middle phalanx of the 4th finger8 CL E G H
HP:0009142HP:0009982Partial duplication of the middle phalanx of the 4th finger8 CL E G H
HP:0009142HP:0009953Partial duplication of the middle phalanx of the 2nd finger8 CL E G H
HP:0009142HP:0009978Complete duplication of the distal phalanx of the 4th finger8 CL E G H
HP:0009142HP:0009969Partial duplication of the middle phalanx of the 3rd finger8 CL E G H
HP:0009142HP:0009981Partial duplication of the distal phalanx of the 4th finger8 CL E G H
HP:0009142HP:0009952Complete duplication of the middle phalanx of the 2nd finger8 CL E G H
HP:0009142HP:0009955Partial duplication of the proximal phalanx of the 2nd finger8 CL E G H
HP:0009142HP:0009967Complete duplication of the proximal phalanx of the 3rd finger8 CL E G H
HP:0009142HP:0009980Complete duplication of the proximal phalanx of the 4th finger8 CL E G H
HP:0009142HP:0009983Partial duplication of the proximal phalanx of the 4th finger8 CL E G H
HP:0009142HP:0009950Complete duplication of the distal phalanx of the 2nd finger8 CL E G H
HP:0009142HP:0009966Complete duplication of the middle phalanx of the 3rd finger8CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009142HP:0009970Partial duplication of the proximal phalanx of the 3rd finger8CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0009142HP:0009968Partial duplication of the distal phalanx of the 3rd finger8FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009142HP:0009951Partial duplication of the distal phalanx of the 2nd finger8FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0009142HP:0009968Partial duplication of the distal phalanx of the 3rd finger8TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0009142HP:0009951Partial duplication of the distal phalanx of the 2nd finger8TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (232) :ABCA12 ACOX1 ACTB ACTG1 ADA2 AHI1 AKT3 ALX3 ARL13B ARL3 ARL6 ARMC9 ARVCF B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BHLHA9 BLM BMPR1B C2CD3 CANT1 CBY1 CC2D2A CCDC22 CCDC28B CCND2 CD96 CDC45 CEP104 CEP120 CEP19 CEP290 CEP41 CFAP418 CHD7 CHN1 CHSY1 CIBAR1 COMT CPLANE1 CPLX1 CSPP1 CTBP1 DACT1 DDX59 DEAF1 DHCR7 DVL1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EFNB1 EFTUD2 ESCO2 EVC EVC2 EXTL3 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FGF10 FGFR2 FGFR3 FGFRL1 FLI1 FLII FLNA FLNB GATA1 GDF5 GJA1 GJA5 GJA8 GLI1 GLI2 GLI3 GP1BB GPC3 GPC4 HEATR3 HESX1 HIRA HOXA13 HOXD13 HYLS1 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E INTU IQSEC2 JMJD1C KATNIP KIAA0586 KIAA0753 KIAA0825 KIF7 LBR LEMD3 LETM1 LHX3 LHX4 LMBR1 LZTFL1 MAFB MAP3K20 MBTPS2 MEGF8 MKKS MKS1 NAA10 NEK1 NELFA NPHP1 NSD2 NUP107 OFD1 OTUD5 PAH PDE6D PHF8 PIBF1 PIGG PIK3CA PIK3R2 PLAA PNPLA6 PORCN POU1F1 PPP2R3C PRKACA PRKACB PROP1 PTEN PUF60 RAB23 RAI1 RBM10 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 SALL1 SALL4 SC5D SCAPER SCNM1 SDCCAG8 SEC24C SETBP1 SF3B2 SH2B1 SHH SHMT2 SMO SMOC1 SUFU TBX1 TBX3 TBX5 TCTN1 TCTN2 TCTN3 TFAP2A TFAP2B TGFBR1 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TRIM32 TSR2 TTC21B TTC8 TWIST1 TXNDC15 UBE2T UFD1 WASHC5 WDPCP WDR19 WDR35 WNT5A WNT7A ZIC3 ZNF141 ZNF423 ZNF699

Diseases (191) :ORPHA:457 ORPHA:2971 ORPHA:2995 ORPHA:124 ORPHA:475 ORPHA:220493 OMIM:615937 ORPHA:83473 OMIM:136760 ORPHA:110 OMIM:209900 OMIM:617622 ORPHA:567 ORPHA:564 OMIM:614175 OMIM:615981 OMIM:615986 ORPHA:568 ORPHA:3329 OMIM:210900 ORPHA:2098 ORPHA:93384 ORPHA:434179 OMIM:251450 ORPHA:1454 ORPHA:2318 OMIM:612284 ORPHA:7 OMIM:615938 OMIM:211750 ORPHA:1308 OMIM:617063 ORPHA:474 OMIM:611134 OMIM:617406 OMIM:214800 ORPHA:233 ORPHA:363417 OMIM:618219 ORPHA:2754 OMIM:277170 OMIM:194190 ORPHA:280 ORPHA:857 ORPHA:2919 OMIM:174300 ORPHA:819 ORPHA:818 OMIM:270400 OMIM:180700 OMIM:616331 ORPHA:93271 ORPHA:289 OMIM:617088 OMIM:617405 ORPHA:401973 ORPHA:1520 OMIM:610536 ORPHA:79113 ORPHA:3103 ORPHA:952 OMIM:225500 OMIM:193530 ORPHA:508533 OMIM:618763 OMIM:227650 OMIM:314390 OMIM:227645 OMIM:227646 OMIM:600901 ORPHA:2363 OMIM:149730 OMIM:101200 OMIM:101400 ORPHA:2308 OMIM:311300 OMIM:304120 OMIM:150250 ORPHA:503 OMIM:113100 OMIM:200700 ORPHA:2710 OMIM:612474 OMIM:174400 OMIM:610829 ORPHA:36 OMIM:175700 ORPHA:380 ORPHA:672 OMIM:146510 OMIM:174200 OMIM:174700 ORPHA:373 OMIM:312870 OMIM:620072 ORPHA:226307 ORPHA:2438 OMIM:176305 OMIM:186000 ORPHA:887 ORPHA:2189 OMIM:236680 OMIM:266920 OMIM:619471 OMIM:615630 OMIM:611263 OMIM:213300 OMIM:617926 OMIM:618498 OMIM:200990 OMIM:614120 OMIM:215140 ORPHA:1879 ORPHA:2378 OMIM:135750 OMIM:174500 ORPHA:93405 OMIM:615994 OMIM:616890 ORPHA:85284 OMIM:308205 ORPHA:65759 OMIM:614976 OMIM:236700 ORPHA:2473 OMIM:249000 ORPHA:2751 OMIM:263520 ORPHA:220497 OMIM:618348 OMIM:616730 ORPHA:2750 OMIM:301056 ORPHA:2209 OMIM:615665 ORPHA:85287 ORPHA:60040 ORPHA:521426 ORPHA:2377 ORPHA:2092 OMIM:305600 OMIM:618419 OMIM:619143 ORPHA:65285 ORPHA:508498 OMIM:201000 ORPHA:2886 OMIM:210710 OMIM:268310 OMIM:611560 OMIM:611561 OMIM:105650 OMIM:107480 ORPHA:959 ORPHA:2307 OMIM:607330 ORPHA:46059 OMIM:620107 OMIM:269150 OMIM:164210 ORPHA:261197 OMIM:619121 OMIM:601707 ORPHA:1553 OMIM:241800 ORPHA:1106 OMIM:206920 OMIM:181450 ORPHA:3138 OMIM:142900 OMIM:616654 OMIM:258860 ORPHA:2753 ORPHA:1297 OMIM:113620 ORPHA:46627 OMIM:609192 OMIM:213980 OMIM:617563 OMIM:608091 OMIM:603194 ORPHA:2752 OMIM:216360 OMIM:607361 OMIM:619879 OMIM:616435 OMIM:217085 OMIM:613610 OMIM:228930 OMIM:615226 OMIM:619488
 

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