1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070442 | paroxysmal nonkinesigenic dyskinesia 3 | A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. |
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. |