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:0110971 Direct  true
Redundant  false

1 Child Term

Identifier Name Description
DOID:0110971 brachydactyly type D A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.

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.