Preferred Name | Lissencephaly | |
Synonyms |
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Definitions |
The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. |
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ID |
http://www.orpha.net/ORDO/Orphanet_48471 |
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definition |
The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. |
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definition_citation |
Orphanet |
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expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=48471 |
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hasDbXref |
MedDRA:10048911 UMLS:C0266463 MeSH:D054082 |
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label |
Lissencephaly |
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notation |
ORPHA:48471 Category |
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prefixIRI |
ORDO:Orphanet_48471 |
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prefLabel |
Lissencephaly |
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subClassOf |
http://www.orpha.net/ORDO/Orphanet_269564 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_557492 |