Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Parent Node:
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Syndactyly (HP:0001159)help
..Starting node
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Cutaneous syndactyly (HP:0012725)help
Term ID: 12725
Name: Cutaneous syndactyly
Synonym: Cutaneous syndactyly of digits; Syndactyly, cutaneous
Definition: A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
Comments:
Reference: HP:0012725
Genes and Diseases:
 
       Child Nodes:
........expandCutaneous finger syndactyly (HP:0010554) help
................... HP:0005650 Cutaneous syndactyly between fingers 2 and 5
................... HP:0006088 1-5 finger complete cutaneous syndactyly
................... HP:0011939 3-4 finger cutaneous syndactyly
........expandCutaneous syndactyly of toes (HP:0010621) help
................... HP:0005709 2-3 toe cutaneous syndactyly
................... HP:0005767 1-2 toe complete cutaneous syndactyly
................... HP:0005768 2-4 toe cutaneous syndactyly

 Sister Nodes: 
..expandFinger syndactyly (HP:0006101) help
..expandToe syndactyly (HP:0001770) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012725HP:0012725Cutaneous syndactyly0ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0012725HP:0012725Cutaneous syndactyly0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0012725HP:0012725Cutaneous syndactyly0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0012725HP:0012725Cutaneous syndactyly0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0012725HP:0012725Cutaneous syndactyly0GRIP1 CL E G H23426617667FRASER SYNDROME 3617667C4540040OMIM11815918708604597
HP:0012725HP:0012725Cutaneous syndactyly0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0012725HP:0012725Cutaneous syndactyly0MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM173617797609479
HP:0012725HP:0012725Cutaneous syndactyly0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0012725HP:0012725Cutaneous syndactyly0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0012725HP:0012725Cutaneous syndactyly0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0012725HP:0012725Cutaneous syndactyly0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0012725HP:0012725Cutaneous syndactyly1ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0012725HP:0012725Cutaneous syndactyly1BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0012725HP:0012725Cutaneous syndactyly1CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0012725HP:0012725Cutaneous syndactyly1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0012725HP:0012725Cutaneous syndactyly1GRIP1 CL E G H23426617667FRASER SYNDROME 3617667C4540040OMIM11815918708604597
HP:0012725HP:0012725Cutaneous syndactyly1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0012725HP:0012725Cutaneous syndactyly1MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM173617797609479
HP:0012725HP:0012725Cutaneous syndactyly1MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0012725HP:0012725Cutaneous syndactyly1RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0012725HP:0012725Cutaneous syndactyly1TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0012725HP:0012725Cutaneous syndactyly1TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0012725HP:0012725Cutaneous syndactyly2ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0012725HP:0012725Cutaneous syndactyly2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM14411835126615416
HP:0012725HP:0012725Cutaneous syndactyly2CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM17412431390114205
HP:0012725HP:0012725Cutaneous syndactyly2CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0012725HP:0012725Cutaneous syndactyly2GRIP1 CL E G H23426617667FRASER SYNDROME 3617667C4540040OMIM11815918708604597
HP:0012725HP:0012725Cutaneous syndactyly2KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0012725HP:0012725Cutaneous syndactyly2MAP3K20 CL E G H51776616890Split-foot malformation with mesoaxial polydactyly616890C4225167OMIM173617797609479
HP:0012725HP:0012725Cutaneous syndactyly2MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0012725HP:0012725Cutaneous syndactyly2RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0012725HP:0012725Cutaneous syndactyly2TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0012725HP:0012725Cutaneous syndactyly2TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012725HP:0012725Cutaneous syndactyly0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM026424541748192090
HP:0012725HP:0012725Cutaneous syndactyly0TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0012725HP:0012725Cutaneous syndactyly1CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM026424541748192090
HP:0012725HP:0012725Cutaneous syndactyly1TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0012725HP:0012725Cutaneous syndactyly2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM026424541748192090
HP:0012725HP:0012725Cutaneous syndactyly2TBC1D24 CL E G H5746579500ORPHA05656429203613577


Genes (41) :ANKRD11 BHLHA9 CACNA1C CCBE1 CDH1 CKAP2L DCHS1 FAT4 FGF9 FGFR2 FRAS1 GJA1 GLI3 GRIP1 HOXD13 IRF6 KCTD1 KIAA1109 LEMD3 LMBR1 LRP4 MAP3K20 MCTP2 MEGF8 MEIS2 MYH8 NECTIN1 NECTIN4 NOG ORC1 PAX3 PIEZO2 RBM10 ROR2 SMARCAD1 SMO TBC1D24 TMEM94 TP63 TWIST1 WDR19

Diseases (43) :2332 607539 601005 119580 272440 617667 617822 616890 600987 311900 79500 618316 617746 235510 601390 615546 612961 101200 219000 186300 119500 1306 614305 614976 158300 225060 613573 611377 186500 224690 896 148820 114300 113000 129200 601707 614378 257850 672 181270 186200 1596 69085
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.