About: lethal congenital glycogen storage disease of heart

Not logged in : Login

(Sponging disallowed)

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

About: lethal congenital glycogen storage disease of heart Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	physical disorder glycogen storage disease nodeID://b50942257 nodeID://b50942258
label	lethal congenital glycogen storage disease of heart
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090101
database_cross_reference	ICD10CM:E74.0+ ICD10CM:G73.6* OMIM:261740 ORDO:439854
has_exact_synonym	fatal congenital hypertrophic cardiomyopathy due to GSD (en) fatal congenital nonlysosomal cardiac glycogenosis (en) phosphorylase kinase deficiency of heart (en) fatal congenital hypertrophic cardiomyopathy due to glycogenosis (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942259

Faceted Search & Find service v1.17_git150 as of Jan 20 2025

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3332 as of Jan 29 2025, on Linux (x86_64-generic-linux-glibc25), Single-Server Edition (378 GB total memory, 23 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software