loading...| Preferred Name | lissencephaly | |
| Synonyms |
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| Definitions |
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. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050453 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| 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 |
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| fromILAE |
true |
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| has_obo_namespace |
disease_ontology |
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| 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). |
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| id |
DOID:0050453 |
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| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
lissencephaly |
|
| notation |
DOID:0050453 |
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| prefLabel |
lissencephaly |
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| 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. |
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| subClassOf |