Human Phenotype Ontology 
Grandparent Node:
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Cutaneous syndactyly (HP:0012725)help
Grandparent Node:
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Toe syndactyly (HP:0001770)help
Parent Node:
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Cutaneous syndactyly of toes (HP:0010621)help
..Starting node
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2-3 toe cutaneous syndactyly (HP:0005709)help
Term ID: 5709
Name: 2-3 toe cutaneous syndactyly
Synonym: Complete cutaneous syndactyly of second and third toes; Cutaneous 2,3 toe syndactyly; Cutaneous syndactyly of second and third toes; Webbed skin of 2nd-3rd toes
Definition:
Comments:
Reference: HP:0005709
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand1-2 toe complete cutaneous syndactyly (HP:0005767) help
..expand2-4 toe cutaneous syndactyly (HP:0005768) 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:0005709HP:00057092-3 toe cutaneous syndactyly0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0005709HP:00057092-3 toe cutaneous syndactyly0CACNA1C CL E G H7751390OMIM:620029572
HP:0005709HP:00057092-3 toe cutaneous syndactyly0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0005709HP:00057092-3 toe cutaneous syndactyly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0005709HP:00057092-3 toe cutaneous syndactyly0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0005709HP:00057092-3 toe cutaneous syndactyly0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0005709HP:00057092-3 toe cutaneous syndactyly0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0005709HP:00057092-3 toe cutaneous syndactyly0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0005709HP:00057092-3 toe cutaneous syndactyly0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0005709HP:00057092-3 toe cutaneous syndactyly0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0005709HP:00057092-3 toe cutaneous syndactyly0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0005709HP:00057092-3 toe cutaneous syndactyly0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2


Genes (12) :BCOR CACNA1C CAMTA1 DHCR7 FGF16 MCTP2 MECP2 NECTIN4 RPL10 SCARF2 TP63 TRRAP

Diseases (12) :OMIM:300166 OMIM:620029 OMIM:614756 OMIM:270400 OMIM:309630 ORPHA:1596 OMIM:300260 OMIM:613573 OMIM:300998 OMIM:600920 OMIM:129400 OMIM:618454
 

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