Experimental Factor Ontology

Last uploaded: December 16, 2024
Preferred Name

familial restrictive cardiomyopathy
Synonyms

hereditary restrictive cardiomyopathy

Definitions

An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.

ID

http://purl.obolibrary.org/obo/MONDO_0016340

database_cross_reference

SCTID:233878008

UMLS:C0340429

Orphanet:217635

OMIMPS:115210

MEDGEN:468561

GARD:20532

ICD9:425.4

definition

An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0340429

http://identifiers.org/medgen/468561

http://identifiers.org/snomedct/233878008

http://www.orpha.net/ORDO/Orphanet_217635

https://omim.org/phenotypicSeries/PS115210

has_exact_synonym

hereditary restrictive cardiomyopathy

id

MONDO:0016340

in_subset

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

http://purl.obolibrary.org/obo/mondo#nord_rare

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

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

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

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

label

familial restrictive cardiomyopathy

notation

MONDO:0016340

preferred label

familial restrictive cardiomyopathy

prefLabel

familial restrictive cardiomyopathy

subClassOf

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

http://www.ebi.ac.uk/efo/EFO_0002630

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