Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

familial hypertrophic cardiomyopathy
Synonyms

familial hypertrophic cardiomyopathy

familila or idiopathic hypertrophic obstructive cardiomyopathy

hypertrophic familial cardiomyopathy

hereditary hypertrophic cardiomyopathy

cardiomyopathy, familial hypertrophic

Definitions

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.

ID

http://purl.obolibrary.org/obo/MONDO_0024573

database_cross_reference

UMLS:C0949658

SCTID:471885006

OMIMPS:192600

Orphanet:155

DOID:0080326

MESH:D024741

MEDGEN:183649

NCIT:C84773

definition

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0949658

http://purl.obolibrary.org/obo/DOID_0080326

http://identifiers.org/medgen/183649

http://purl.obolibrary.org/obo/NCIT_C84773

https://omim.org/phenotypicSeries/PS192600

http://identifiers.org/mesh/D024741

http://identifiers.org/snomedct/471885006

has_exact_synonym

familial hypertrophic cardiomyopathy

familila or idiopathic hypertrophic obstructive cardiomyopathy

hypertrophic familial cardiomyopathy

hereditary hypertrophic cardiomyopathy

cardiomyopathy, familial hypertrophic

id

MONDO:0024573

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#inferred_rare

label

familial hypertrophic cardiomyopathy

notation

MONDO:0024573

preferred label

familial hypertrophic cardiomyopathy

prefLabel

familial hypertrophic cardiomyopathy

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000538

http://www.ebi.ac.uk/efo/EFO_0002945

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