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:0110928 Direct  false
Redundant  false
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1 Child Term

Identifier Name Description
DOID:0110928 nemaline myopathy 2 A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.

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.