Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

familial dilated cardiomyopathy
Synonyms

hypokinetic dilated cardiomyopathy, familial

dilated cardiomyopathy, familial

idiopathic dilated cardiomyopathy

DCM

hereditary dilated cardiomyopathy

Definitions

A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. Editor note: unsure if GARD is familial form

ID

http://purl.obolibrary.org/obo/MONDO_0016333

comment

Editor note: unsure if GARD is familial form

database_cross_reference

MESH:C536231

Orphanet:217607

GARD:20525

UMLS:C0340427

OMIMPS:115200

MEDGEN:90951

definition

A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.

has_exact_synonym

hereditary dilated cardiomyopathy

has_related_synonym

hypokinetic dilated cardiomyopathy, familial

dilated cardiomyopathy, familial

idiopathic dilated cardiomyopathy

DCM

id

MONDO:0016333

in_subset

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

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

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

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

label

familial dilated cardiomyopathy

notation

MONDO:0016333

prefLabel

familial dilated cardiomyopathy

should_conform_to

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

skos_exactMatch

http://identifiers.org/medgen/90951

http://linkedlifedata.com/resource/umls/id/C0340427

http://purl.obolibrary.org/obo/Orphanet_217607

http://identifiers.org/mesh/C536231

https://omim.org/phenotypicSeries/PS115200

treeView

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

http://purl.obolibrary.org/obo/MONDO_0005021

subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0005021

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