WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:630
Child Term . Identifier  DOID:0110944 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0110944 autosomal recessive osteopetrosis 4 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.

1 Parent Term

Identifier Name Description
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.