Mondo Disease Ontology

Last uploaded: November 25, 2024

Preferred Name	congenital macroglossia
Synonyms	macroglossia
ID	http://purl.obolibrary.org/obo/MONDO_0007927
database_cross_reference	MEDGEN:3588 SCTID:270516002 icd11.foundation:423141418 GARD:16599 ICD9:750.15 OMIM:153630 UMLS:C0009677 MESH:C531735 Orphanet:2430
has_related_synonym	macroglossia
id	MONDO:0007927
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	congenital macroglossia
notation	MONDO:0007927
prefLabel	congenital macroglossia
skos_exactMatch	http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/423141418 http://identifiers.org/medgen/3588 http://identifiers.org/mesh/C531735 https://omim.org/entry/153630 http://purl.obolibrary.org/obo/Orphanet_2430 http://linkedlifedata.com/resource/umls/id/C0009677 http://identifiers.org/snomedct/270516002
treeView	http://purl.obolibrary.org/obo/MONDO_0015496
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015496

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0007927	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007927	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007927	DOVES	SAME_URI
http://www.limics.org/hrdo/rdfns#pat_id_535	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_2430	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C531735	RH-MESH	LOOM
rgo:24231	GAMUTS	LOOM
http://purl.bioontology.org/ontology/RCD/XE2Qr	RCD	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/270516002	SNOMEDCT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3273	OCHV	LOOM
http://purl.bioontology.org/ontology/MESH/C531735	MESH	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Congenital_macroglossia	RPO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063437	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0007927	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007927	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007927	DOVES	LOOM