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DO Term : syndactyly-telecanthus-anogenital and renal malformations syndrome [DOID:0111931] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28.

synonyms:
STAR syndrome,
MESH:C567475,
ORDO:140952,
toe syndactyly, telecanthus, and anogenital and renal malformations,
SNOMEDCT_US_2023_03_01:723581006,
GARD:10295,
syndactyly with renal and anogenital malformations,
OMIM:300707,
300707,
UMLS_CUI:C2678045

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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