Mondo Disease Ontology

Last uploaded: December 3, 2024

Preferred Name	lysosomal storage disease with skeletal involvement
Synonyms	dysostosis multiplex
ID	http://purl.obolibrary.org/obo/MONDO_0800088
database_cross_reference	ICD9:756.9 SCTID:279081001 GARD:19203 SCTID:254069004 Orphanet:93448
has_exact_synonym	dysostosis multiplex
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0800088
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#gard_rare
label	lysosomal storage disease with skeletal involvement
notation	MONDO:0800088
prefLabel	lysosomal storage disease with skeletal involvement
skos_exactMatch	http://identifiers.org/snomedct/254069004 http://identifiers.org/snomedct/279081001 http://purl.obolibrary.org/obo/Orphanet_93448
treeView	http://purl.obolibrary.org/obo/MONDO_0018230
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018230

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0800088	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0800088	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0800088	EFO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_93448	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12359	HRDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019706	KTAO	LOOM
http://purl.obolibrary.org/obo/MONDO_0800088	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0800088	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0800088	EFO	LOOM