Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0019512 http://purl.obolibrary.org/obo/MONDO_0019512
Preferred Name	congenital heart malformation
Definitions	A disease that has its basis in the disruption of heart development.
Synonyms	congenital non-syndromic heart malformation rare congenital non-syndromic heart malformation heart development disease congenital heart malformation disorder of heart development
Type	http://www.w3.org/2002/07/owl#Class

definition	A disease that has its basis in the disruption of heart development.
label	congenital heart malformation
prefLabel	congenital heart malformation
database_cross_reference	UMLS:C3649636 MEDGEN:1680993 EFO:0005269 Orphanet:88991
notation	MONDO:0019512
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#disease_grouping
has_related_synonym	congenital non-syndromic heart malformation rare congenital non-syndromic heart malformation
id	MONDO:0019512
skos_exactMatch	http://purl.obolibrary.org/obo/Orphanet_88991 http://purl.obolibrary.org/obo/EFO_0005269 http://identifiers.org/medgen/1680993 http://linkedlifedata.com/resource/umls/id/C3649636
subClassOf	http://purl.obolibrary.org/obo/MONDO_0024239
terms_conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml http://purl.obolibrary.org/obo/disrupts_process.yaml
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	heart development disease congenital heart malformation disorder of heart development
treeView	http://purl.obolibrary.org/obo/MONDO_0024239

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