National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Lissencephaly
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103921
ALT_DEFINITION	A brain malformation characterized by smooth folds and grooves in the brain.
code	C103921
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD MedDRA
DEFINITION	A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97172
label	Lissencephaly
NICHD_Hierarchy_Term	Lissencephaly
Preferred_Name	Lissencephaly
prefixIRI	C103921
prefLabel	Lissencephaly
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0266463
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0050453	Human Disease Ontology 123	LOOM
http://purl.obolibrary.org/obo/HP_0001339	Human Phenotype Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/D054082	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037613	Online Mendelian Inheritance in Man	LOOM