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DO Term : preaxial polydactyly I [DOID:0060987] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.

synonyms:
ORDO:93339,
OMIM:174400,
174400,
GARD:4417

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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