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:0111818 Direct  true
Redundant  false

1 Child Term

Identifier Name Description
DOID:0111818 syndactyly type 4 A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.

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.