About: Barth syndrome

Not logged in : Login

(Sponging disallowed)

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Barth syndrome Goto Sponge Distinct Permalink

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

Faceted Search & Find service v1.17_git144 as of Jul 26 2024

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 15 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software