Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023

Preferred Name	sclerosteosis 1
Synonyms	SOST sclerosteosis sclerosteosis type 1 SOST1 sclerosteosis 1 sclerosteosis caused by mutation in SOST SOST cortical hyperostosis with syndactyly
Definitions	Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.
ID	http://purl.obolibrary.org/obo/MONDO_0010016
database_cross_reference	DOID:0060756 OMIM:269500 UMLS:CN032489
definition	Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.
exactMatch	http://linkedlifedata.com/resource/umls/id/CN032489 https://omim.org/entry/269500 http://purl.obolibrary.org/obo/DOID_0060756
has_exact_synonym	SOST sclerosteosis sclerosteosis type 1 SOST1 sclerosteosis 1 sclerosteosis caused by mutation in SOST
has_related_synonym	SOST cortical hyperostosis with syndactyly
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0010016
label	sclerosteosis 1
notation	MONDO:0010016
prefLabel	sclerosteosis 1
treeView	http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0017838
subClassOf	http://purl.obolibrary.org/obo/MONDO_0800084 http://purl.obolibrary.org/obo/MONDO_0017838

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/269500	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
	http://purl.obolibrary.org/obo/DOID_0060756	Human Disease Ontology / 人类疾病本体	LOOM