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DO Term : Barth syndrome [DOID:0050476] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.

synonyms:
3-methylglutaconicaciduria type II,
MGA Type 2,
GARD:5890,
MESH:D056889,
SNOMEDCT_US_2023_03_01:297231002,
UMLS_CUI:C0574083,
NCI:C84585,
MGA type II,
OMIM:302060,
ORDO:111,
302060,
3-methylglutaconicaciduria type 2,
ICD10CM:E78.71

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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