Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库

Last uploaded: September 7, 2023

Preferred Name	Aspartylglucosaminuria
ID	http://purl.bioontology.org/ontology/OMIM/MTHU014368
cui	C0268225
Manifestation of	http://purl.bioontology.org/ontology/OMIM/208400
notation	MTHU014368
prefLabel	Aspartylglucosaminuria
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000012

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E77.1	International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改	CUI
http://www.orpha.net/ORDO/Orphanet_93	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.bioontology.org/ontology/MESH/D054880	Medical Subject Headings / 医学主题词表	CUI
http://purl.bioontology.org/ontology/MESH/D054880	Medical Subject Headings / 医学主题词表	LOOM
http://purl.obolibrary.org/obo/DOID_0050461	BioAssay Ontology / 生物活性分析本体	LOOM
http://purl.obolibrary.org/obo/DOID_0050461	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0008830	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0008830	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.obolibrary.org/obo/HP_0012068	Human Phenotype Ontology / 人类表型本体	LOOM