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

Last uploaded: September 7, 2023

Preferred Name	Normal
ID	http://purl.bioontology.org/ontology/OMIM/MTHU002946
cui	C1873497
Manifestation of	http://purl.bioontology.org/ontology/OMIM/607936 http://purl.bioontology.org/ontology/OMIM/614732 http://purl.bioontology.org/ontology/OMIM/607602 http://purl.bioontology.org/ontology/OMIM/607131 http://purl.bioontology.org/ontology/OMIM/620148 http://purl.bioontology.org/ontology/OMIM/177170 http://purl.bioontology.org/ontology/OMIM/607655 http://purl.bioontology.org/ontology/OMIM/614856
notation	MTHU002946
prefLabel	Normal
tui	T033
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000089 http://purl.bioontology.org/ontology/OMIM/MTHU000252 http://purl.bioontology.org/ontology/OMIM/MTHU001848 http://purl.bioontology.org/ontology/OMIM/MTHU000568 http://purl.bioontology.org/ontology/OMIM/MTHU000110 http://purl.bioontology.org/ontology/OMIM/MTHU000817 http://purl.bioontology.org/ontology/OMIM/MTHU000047

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/UO_0000075	Units of Measurement Ontology / 计量单位本体	LOOM
http://semanticscience.org/resource/SIO_000554	Semanticscience Integrated Ontology / 语义科学集成本体	LOOM
http://purl.bioontology.org/ontology/LNC/LP32108-0	Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码	LOOM
http://purl.bioontology.org/ontology/LNC/LA6626-1	Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14165	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.obolibrary.org/obo/PATO_0000461	中国人类表型本体 / Human Phenotype Ontology China	LOOM
http://purl.obolibrary.org/obo/PATO_0000461	Phenotypic Quality Ontology / 表型特质本体	LOOM
http://purl.obolibrary.org/obo/PATO_0000461	Uber Anatomy Ontology / 超级解剖学本体	LOOM
http://purl.obolibrary.org/obo/PATO_0000461	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.obolibrary.org/obo/PATO_0000461	Cell Ontology / 细胞本体	LOOM