Human Phenotype Ontology 
Grandparent Node:
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Abnormality of limb bone morphology (HP:0002813)help
Parent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Ectrodactyly (HP:0100257)help
..Starting node
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Split hand (HP:0001171)help
Term ID: 1171
Name: Split hand
Synonym: Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand
Definition: A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Comments:
Reference: HP:0001171
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSplit foot (HP:0001839) 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:0001171HP:0001171Split hand0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent5
HP:0001171HP:0001171Split hand0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent147
HP:0001171HP:0001171Split hand0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0001171HP:0001171Split hand0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040281 - Very frequent4
HP:0001171HP:0001171Split hand0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0001171HP:0001171Split hand0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0001171HP:0001171Split hand0BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional2
HP:0001171HP:0001171Split hand0CDH3 CL E G H10011762OMIM:225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.87
HP:0001171HP:0001171Split hand0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001171HP:0001171Split hand0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0001171HP:0001171Split hand0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001171HP:0001171Split hand0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001171HP:0001171Split hand0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0001171HP:0001171Split hand0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0001171HP:0001171Split hand0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0001171HP:0001171Split hand0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent9
HP:0001171HP:0001171Split hand0DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional3
HP:0001171HP:0001171Split hand0DLX5 CL E G H17492918OMIM:183600Split-Hand/foot malformation 1HP:0040281 - Very frequent3
HP:0001171HP:0001171Split hand0DLX5 CL E G H17492918OMIM:220600Split-Hand/foot malformation 1 with sensorineural hearing loss.3
HP:0001171HP:0001171Split hand0DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0001171HP:0001171Split hand0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent18
HP:0001171HP:0001171Split hand0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0001171HP:0001171Split hand0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent4
HP:0001171HP:0001171Split hand0EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0001171HP:0001171Split hand0FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional37
HP:0001171HP:0001171Split hand0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040282 - Frequent172
HP:0001171HP:0001171Split hand0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0001171HP:0001171Split hand0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001171HP:0001171Split hand0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0001171HP:0001171Split hand0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0001171HP:0001171Split hand0GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040282 - Frequent270
HP:0001171HP:0001171Split hand0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001171HP:0001171Split hand0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0001171HP:0001171Split hand0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040284 - Very rare12
HP:0001171HP:0001171Split hand0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency.98
HP:0001171HP:0001171Split hand0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0001171HP:0001171Split hand0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0001171HP:0001171Split hand0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0001171HP:0001171Split hand0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040283 - Occasional99
HP:0001171HP:0001171Split hand0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0001171HP:0001171Split hand0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0001171HP:0001171Split hand0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001171HP:0001171Split hand0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001171HP:0001171Split hand0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001171HP:0001171Split hand0MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly2
HP:0001171HP:0001171Split hand0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0001171HP:0001171Split hand0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0001171HP:0001171Split hand0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0001171HP:0001171Split hand0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2ZHP:0040283 - Occasional8
HP:0001171HP:0001171Split hand0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0001171HP:0001171Split hand0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0001171HP:0001171Split hand0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0001171HP:0001171Split hand0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0001171HP:0001171Split hand0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0001171HP:0001171Split hand0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent452
HP:0001171HP:0001171Split hand0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0001171HP:0001171Split hand0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0001171HP:0001171Split hand0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0001171HP:0001171Split hand0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0001171HP:0001171Split hand0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0001171HP:0001171Split hand0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0001171HP:0001171Split hand0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0001171HP:0001171Split hand0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0001171HP:0001171Split hand0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0001171HP:0001171Split hand0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040281 - Very frequent20
HP:0001171HP:0001171Split hand0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0001171HP:0001171Split hand0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent3
HP:0001171HP:0001171Split hand0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0001171HP:0001171Split hand0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0001171HP:0001171Split hand0SEM1 CL E G H797910845ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0001171HP:0001171Split hand0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2HP:0040283 - Occasional6
HP:0001171HP:0001171Split hand0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0001171HP:0001171Split hand0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001171HP:0001171Split hand0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040281 - Very frequent123
HP:0001171HP:0001171Split hand0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0001171HP:0001171Split hand0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0001171HP:0001171Split hand0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0001171HP:0001171Split hand0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0001171HP:0001171Split hand0TP63 CL E G H862615979ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional140
HP:0001171HP:0001171Split hand0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140
HP:0001171HP:0001171Split hand0TP63 CL E G H862615979OMIM:605289Split-Hand/foot malformation 4.140
HP:0001171HP:0001171Split hand0WNT10B CL E G H748012775ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional4
HP:0001171HP:0001171Split hand0WNT10B CL E G H748012775OMIM:225300SPLIT-HAND/FOOT MALFORMATION 6; SHFM64
HP:0001171HP:0001171Split hand0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiencyHP:0040282 - Frequent13


Genes (64) :AHSG ARHGAP31 ARSB BHLHA9 BSCL2 BTRC CDH3 CPLX1 CTBP1 CTDP1 CTSD DHCR7 DLL4 DLX5 DLX6 DOCK6 EGR2 EOGT EPS15L1 FBXW4 FGFR1 FGFR3 FGFRL1 GDAP1 GLI3 GNPTAB HINT1 HSD17B4 HSPB1 IDS INF2 IRF6 ITGB6 JPH1 LETM1 LSS MAP3K20 MCM3AP MED12 MMP2 MORC2 MPZ NDRG1 NEFL NELFA NOTCH1 NSD2 NXN PIGG PMP22 PORCN PRX RBPJ ROR2 SBF2 SEM1 SIGMAR1 SLC52A2 SVBP TBX5 TCTN3 TP63 WNT10B WNT7A

Diseases (56) :ORPHA:2850 ORPHA:974 OMIM:253200 ORPHA:3329 ORPHA:100998 OMIM:270685 ORPHA:2440 OMIM:225280 OMIM:194190 ORPHA:280 OMIM:604168 OMIM:610127 ORPHA:818 OMIM:183600 OMIM:220600 OMIM:145900 ORPHA:2117 ORPHA:1860 ORPHA:101097 OMIM:607831 ORPHA:93322 OMIM:252500 OMIM:252600 ORPHA:324442 OMIM:261515 OMIM:606595 OMIM:309900 OMIM:614455 ORPHA:1300 OMIM:616890 OMIM:618124 OMIM:305450 OMIM:259600 OMIM:616688 OMIM:118200 ORPHA:99950 OMIM:617882 ORPHA:1507 OMIM:118300 ORPHA:90658 OMIM:118220 OMIM:305600 ORPHA:2092 OMIM:604563 OMIM:605726 OMIM:614707 OMIM:618569 ORPHA:392 ORPHA:2753 OMIM:103285 OMIM:604292 ORPHA:1896 OMIM:603543 OMIM:605289 OMIM:225300 OMIM:276820
 

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