Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	Megalencephaly
ID	http://purl.bioontology.org/ontology/OMIM/MTHU004934
cui	C2720434
Manifestation of	http://purl.bioontology.org/ontology/OMIM/614499 http://purl.bioontology.org/ontology/OMIM/617011 http://purl.bioontology.org/ontology/OMIM/248000 http://purl.bioontology.org/ontology/OMIM/603387 http://purl.bioontology.org/ontology/OMIM/602501 http://purl.bioontology.org/ontology/OMIM/604004 http://purl.bioontology.org/ontology/OMIM/100800 http://purl.bioontology.org/ontology/OMIM/616482 http://purl.bioontology.org/ontology/OMIM/613925 http://purl.bioontology.org/ontology/OMIM/101200 http://purl.bioontology.org/ontology/OMIM/615938 http://purl.bioontology.org/ontology/OMIM/613926
notation	MTHU004934
prefLabel	Megalencephaly
tui	T019
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000058 http://purl.bioontology.org/ontology/OMIM/MTHU000086

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/Q04.5	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.5	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.obolibrary.org/obo/HP_0001355	Human Phenotype Ontology	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA05.1	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/MESH/D058627	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/ICD10/Q04.5	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10/Q04.5	International Classification of Diseases, Version 10	LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q04.5	International Classification of Diseases, 10th Edition, China	CUI