About: Barth syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	X-linked recessive disease lipid metabolism disorder nodeID://b50936904
label	Barth syndrome
comment	OMIM mapping confirmed by DO. [SN].
has exact match	MESH:D056889
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050476
database_cross_reference	GARD:5890 ICD10CM:E78.71 MESH:D056889 NCI:C84585 OMIM:302060 SNOMEDCT_US_2021_09_01:297231002 UMLS_CUI:C0574083
has_exact_synonym	3-methylglutaconicaciduria type 2 (en) 3-methylglutaconicaciduria type II (en) MGA Type 2 (en) MGA type II (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A lipid metabolism disorder 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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50936905

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