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

Last uploaded: September 7, 2023

Preferred Name	Periventricular nodular heterotopia
ID	http://purl.bioontology.org/ontology/OMIM/MTHU042504
cui	C1868720
Manifestation of	http://purl.bioontology.org/ontology/OMIM/617201 http://purl.bioontology.org/ontology/OMIM/615544 http://purl.bioontology.org/ontology/OMIM/601390 http://purl.bioontology.org/ontology/OMIM/619737 http://purl.bioontology.org/ontology/OMIM/615546 http://purl.bioontology.org/ontology/OMIM/617055 http://purl.bioontology.org/ontology/OMIM/603671 http://purl.bioontology.org/ontology/OMIM/618185 http://purl.bioontology.org/ontology/OMIM/619135 http://purl.bioontology.org/ontology/OMIM/618572 http://purl.bioontology.org/ontology/OMIM/618709
notation	MTHU042504
prefLabel	Periventricular nodular heterotopia
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000058

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_98892	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0020341	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0020341	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.obolibrary.org/obo/DOID_0050454	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.bioontology.org/ontology/MESH/D054091	Medical Subject Headings / 医学主题词表	CUI
http://purl.bioontology.org/ontology/MESH/D054091	Medical Subject Headings / 医学主题词表	LOOM
http://purl.obolibrary.org/obo/HP_0032388	Human Phenotype Ontology / 人类表型本体	LOOM