Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

familial hypertrophic cardiomyopathy
Synonyms

hypertrophic familial cardiomyopathy

cardiomyopathy, familial hypertrophic

hereditary hypertrophic cardiomyopathy

familial hypertrophic cardiomyopathy

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

database_cross_reference

SCTID:471885006

NCIT:C84773

DOID:0080326

MESH:D024741

GARD:0007229

OMIMPS:192600

exactMatch

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

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

http://identifiers.org/mesh/D024741

http://identifiers.org/snomedct/471885006

has exact synonym

hypertrophic familial cardiomyopathy

cardiomyopathy, familial hypertrophic

hereditary hypertrophic cardiomyopathy

familial hypertrophic cardiomyopathy

id

MONDO:0024573

imported from

http://purl.obolibrary.org/obo/mondo.owl

label

familial hypertrophic cardiomyopathy

notation

MONDO:0024573

prefLabel

familial hypertrophic cardiomyopathy

should_conform_to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005217

http://purl.obolibrary.org/obo/MONDO_0005045

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