WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050736
Child Term . Identifier  DOID:0070061 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0070061 autosomal dominant intellectual developmental disorder 31 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.

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.