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DO Term : Greig cephalopolysyndactyly syndrome [DOID:14761] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.

synonyms:
GARD:6550,
polysyndactyly with peculiars skull shape,
SNOMEDCT_US_2023_03_01:32985001,
MESH:C537300,
NCI:C35255,
UMLS_CUI:C0265306,
OMIM:175700,
DOID:9251,
175700

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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