Human Phenotype Ontology 
Grandparent Node:
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Abnormality of toe (HP:0001780)help
Grandparent Node:
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Syndactyly (HP:0001159)help
Parent Node:
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Toe syndactyly (HP:0001770)help
..Starting node
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1-2 toe syndactyly (HP:0010711)help
Term ID: 10711
Name: 1-2 toe syndactyly
Synonym: Webbed 1st-2nd toes; Webbed first and second toes
Definition: Syndactyly with fusion of toes one and two.
Comments:
Reference: HP:0010711
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand1-3 toe syndactyly (HP:0001459) help
..expand1-4 toe syndactyly (HP:0010712) help
..expand1-5 toe syndactyly (HP:0010713) help
..expand2-3 toe syndactyly (HP:0004691) help
..expand2-4 toe syndactyly (HP:0010714) help
..expand2-5 toe syndactyly (HP:0010715) help
..expand3-4 toe syndactyly (HP:0009779) help
..expand3-5 toe syndactyly (HP:0010716) help
..expand4-5 toe syndactyly (HP:0004692) help
..expandCutaneous syndactyly of toes (HP:0010621) help
..expandOsseous syndactyly of toes (HP:0010717) 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:0010711HP:00107111-2 toe syndactyly0MAP3K20 CL E G H5177617797OMIM:616890Split-Foot malformation with mesoaxial polydactyly2
HP:0010711HP:00107111-2 toe syndactyly0MAP3K20 CL E G H5177617797ORPHA:488232Split-foot malformation-mesoaxial polydactyly syndrome2
HP:0010711HP:00107111-2 toe syndactyly0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0010711HP:00107111-2 toe syndactyly0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135


Genes (3) :MAP3K20 SALL1 SMC1A

Diseases (4) :OMIM:616890 ORPHA:488232 OMIM:107480 OMIM:301044
 

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