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:0080791 Direct  false
Redundant  false
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1 Child Term

Identifier Name Description
DOID:0080791 Treacher Collins syndrome 3 A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

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.