WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0050737
Child Term . Identifier  DOID:0070504 Direct  true
Redundant  false

1 Child Term

Identifier Name Description
DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.

1 Parent Term

Identifier Name Description
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.