loading...| Preferred Name |
lissencephaly spectrum disorders |
| Synonyms |
Broad gyri of cerebrum pachygyria lissencephaly large gyri of cerebrum lissencephaly spectrum disorders macrogyria lissencephaly (disease) |
| Definitions |
Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. 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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0018838 |
| comment |
Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. |
| closeMatch | |
| database_cross_reference |
MedDRA:10048911 DOID:0050453 SCTID:204036008 NCIT:C103921 Orphanet:48471 GARD:0007300 OMIMPS:607432 UMLS:C0266463 MESH:D054082 GARD:0012291 HP:0001339 |
| 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. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C103921 http://purl.obolibrary.org/obo/DOID_0050453 https://omim.org/phenotypicSeries/PS607432 http://purl.obolibrary.org/obo/Orphanet_48471 http://identifiers.org/snomedct/204036008 |
| has characteristic | |
| has_exact_synonym |
lissencephaly lissencephaly spectrum disorders lissencephaly (disease) |
| has_related_synonym |
Broad gyri of cerebrum pachygyria large gyri of cerebrum macrogyria |
| IAO_0000233 | |
| id |
MONDO:0018838 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
| label |
lissencephaly spectrum disorders |
| notation |
MONDO:0018838 |
| prefLabel |
lissencephaly spectrum disorders |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0021147 |
| excluded subClassOf | |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021147 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0018838 | Experimental Factor Ontology / 实验性因素本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0018838 | Experimental Factor Ontology / 实验性因素本体 | SAME_URI |