complex cortical dysplasia with other brain malformations 2
Go to external page http://purl.obolibrary.org/obo/MONDO_0014116
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: KIF5C complex cortical dysplasia with other brain malformations CDCBM2 cortical dysplasia, Complex, with Other brain malformations type 2 complex cortical dysplasia with other brain malformations caused by mutation in KIF5C complex cortical dysplasia with other brain malformations 2 complex cortical dysplasia with other brain malformations type 2
Term information
- UMLS:C3809013 (OMIM:615282)
- DOID:0090133 (MONDO:equivalentTo)
- OMIM:615282 (MONDO:equivalentTo)
clingen
https://omim.org/entry/615282
http://linkedlifedata.com/resource/umls/id/C3809013
http://purl.obolibrary.org/obo/DOID_0090133