Global Code Book Ontology

Last uploaded: May 2, 2024

Preferred Name	cardiogenetic disease
Synonyms	hereditary heart disease
Definitions	A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.
ID	http://purl.obolibrary.org/obo/MONDO_0100547
creator	https://orcid.org/0000-0001-5208-3432
hasExactSynonym	hereditary heart disease
IAO_0000115	A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5952
id	MONDO:0100547
label	cardiogenetic disease
notation	MONDO:0100547
prefLabel	cardiogenetic disease
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005267 http://purl.obolibrary.org/obo/MONDO_0003847

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100547	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100547	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100547	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100547	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100547	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100547	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0100547	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100547	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100547	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100547	OBA	LOOM