WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050739
Child Term . Identifier  DOID:0111711 Direct  false
Redundant  false
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1 Child Term

Identifier Name Description
DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.

1 Parent Term

Identifier Name Description
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.