Human Phenotype Ontology 
Grandparent Node:
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Syndactyly (HP:0001159)help
Parent Node:
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Cutaneous syndactyly (HP:0012725)help
Parent Node:
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Finger syndactyly (HP:0006101)help
..Starting node
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Cutaneous finger syndactyly (HP:0010554)help
Term ID: 10554
Name: Cutaneous finger syndactyly
Synonym: Cutaneous syndactyly of fingers; Cutaneous syndactyly of hands; Webbed fingers; Webbed skin of fingers
Definition: A soft tissue continuity in the A/P axis between two fingers 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 fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Comments:
Reference: HP:0010554
Genes and Diseases:
 
       Child Nodes:
........expandCutaneous syndactyly between fingers 2 and 5 (HP:0005650) help
........expand1-5 finger complete cutaneous syndactyly (HP:0006088) help
........expand3-4 finger cutaneous syndactyly (HP:0011939) help

 Sister Nodes: 
..expand1-2 finger syndactyly (HP:0010704) help
..expand1-3 finger syndactyly (HP:0010706) help
..expand1-4 finger syndactyly (HP:0010707) help
..expand1-5 finger syndactyly (HP:0010708) help
..expand2-3 finger syndactyly (HP:0001233) help
..expand2-4 finger syndactyly (HP:0010709) help
..expand2-5 finger syndactyly (HP:0010692) help
..expand3-4 finger syndactyly (HP:0006097) help
..expand3-5 finger syndactyly (HP:0010710) help
..expand4-5 finger syndactyly (HP:0010705) help
..expandOsseous finger syndactyly (HP:0010492) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010554HP:0010554Cutaneous finger syndactyly0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0010554HP:0010554Cutaneous finger syndactyly0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0010554HP:0010554Cutaneous finger syndactyly0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0010554HP:0010554Cutaneous finger syndactyly0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0010554HP:0010554Cutaneous finger syndactyly0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0010554HP:0010554Cutaneous finger syndactyly0HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0010554HP:0010554Cutaneous finger syndactyly0IRF6 CL E G H3664119500Popliteal pterygium syndrome119500C0265259OMIM13422046121607199
HP:0010554HP:0010554Cutaneous finger syndactyly0LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0010554HP:0010554Cutaneous finger syndactyly0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0010554HP:0010554Cutaneous finger syndactyly0NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM1151959706600644
HP:0010554HP:0010554Cutaneous finger syndactyly0NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM1102819688609607
HP:0010554HP:0010554Cutaneous finger syndactyly0NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM164477866602991
HP:0010554HP:0010554Cutaneous finger syndactyly0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0010554HP:0010554Cutaneous finger syndactyly0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0010554HP:0010554Cutaneous finger syndactyly0PAX3 CL E G H5077896ORPHA11531818617606597
HP:0010554HP:0010554Cutaneous finger syndactyly0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0010554HP:0010554Cutaneous finger syndactyly0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM13232926270613629
HP:0010554HP:0010554Cutaneous finger syndactyly0SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
HP:0010554HP:0010554Cutaneous finger syndactyly1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0010554HP:0010554Cutaneous finger syndactyly1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0010554HP:0010554Cutaneous finger syndactyly1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0010554HP:0010554Cutaneous finger syndactyly1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM11593363689176943
HP:0010554HP:0010554Cutaneous finger syndactyly1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0010554HP:0010554Cutaneous finger syndactyly1HOXD13 CL E G H3239186300Syndactyly, type V186300C1861348OMIM142715136142989
HP:0010554HP:0010554Cutaneous finger syndactyly1IRF6 CL E G H3664119500Popliteal pterygium syndrome119500C0265259OMIM13422046121607199
HP:0010554HP:0010554Cutaneous finger syndactyly1LRP4 CL E G H4038614305Sclerosteosis 2614305C3280402OMIM1343756696604270
HP:0010554HP:0010554Cutaneous finger syndactyly1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0010554HP:0010554Cutaneous finger syndactyly1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM1151959706600644
HP:0010554HP:0010554Cutaneous finger syndactyly1NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM1102819688609607
HP:0010554HP:0010554Cutaneous finger syndactyly1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM164477866602991
HP:0010554HP:0010554Cutaneous finger syndactyly1NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM164477866602991
HP:0010554HP:0010554Cutaneous finger syndactyly1ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0010554HP:0010554Cutaneous finger syndactyly1PAX3 CL E G H5077896ORPHA11531818617606597
HP:0010554HP:0010554Cutaneous finger syndactyly1PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0010554HP:0010554Cutaneous finger syndactyly1PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM13232926270613629
HP:0010554HP:0010554Cutaneous finger syndactyly1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM177111119601500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010554HP:0010554Cutaneous finger syndactyly0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA03413828887607844
HP:0010554HP:0010554Cutaneous finger syndactyly0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM04025810257602337
HP:0010554HP:0010554Cutaneous finger syndactyly0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM04529418340608151
HP:0010554HP:0010554Cutaneous finger syndactyly1LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA03413828887607844
HP:0010554HP:0010554Cutaneous finger syndactyly1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM04025810257602337
HP:0010554HP:0010554Cutaneous finger syndactyly1WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM04529418340608151


Genes (23) :CCBE1 DCHS1 FAT4 FGFR2 FRAS1 GLI3 HOXD13 IRF6 KCTD1 LEMD3 LMBR1 LRP4 MEGF8 NECTIN1 NECTIN4 NOG ORC1 PAX3 PIEZO2 ROR2 SMO TP63 WDR19

Diseases (25) :235510 601390 615546 101200 219000 186300 119500 1306 614305 614976 225060 613573 611377 186500 224690 896 148820 114300 113000 601707 614378 672 181270 186200 69085
 

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