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DO Term : Guttmacher syndrome [DOID:0111544] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.

synonyms:
GARD:4470,
MESH:C538278,
176305,
autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias,
preaxial deficiency-postaxial polydactyly-hypospadias syndrome,
UMLS_CUI:C1867801,
SNOMEDCT_US_2023_03_01:722452004,
OMIM:176305,
ORDO:2957

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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