WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050736
Child Term . Identifier  DOID:0081421 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0081421 familial focal epilepsy with variable foci 1 A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12.

1 Parent Term

Identifier Name Description
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.