EpilepsyOntology

Last uploaded: November 8, 2021

Id	http://purl.obolibrary.org/obo/DOID_0050453 http://purl.obolibrary.org/obo/DOID_0050453
Preferred Name	lissencephaly
Definitions	Xref MGI. OMIM mapping confirmed by DO. [SN]. A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
Type	http://www.w3.org/2002/07/owl#Class

label	lissencephaly
prefLabel	lissencephaly
comment	Xref MGI. OMIM mapping confirmed by DO. [SN].
hasDefinition	Lissencephaly is a malformation of cortical development, where there is deficient gyration (folding) in the cerebral cortex, resulting in absent gyri (agyria) and/or broad simple gyri (pachygyria).
has_obo_namespace	disease_ontology
id	DOID:0050453
文本定义	A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
database_cross_reference	OMIM:615191 OMIM:614019 MESH:D054082 ICD10CM:Q04.8 ICD10CM:Q04.3 ORDO:102009 UMLS_CUI:C0266483 OMIM:300067 NCI:C103921 OMIM:611603 UMLS_CUI:C0266463 OMIM:607432 SNOMEDCT_US_2018_03_01:23024003 OMIM:300215 GARD:12291 See more See less
fromILAE	true
in subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim
imported from	http://purl.obolibrary.org/obo/doid.owl
type	http://www.w3.org/2002/07/owl#Class
subClassOf	http://purl.obolibrary.org/obo/NCIT_C84834
notation	DOID:0050453

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