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:0112229 Direct  false
Redundant  false

1 Child Term

Identifier Name Description
DOID:0112229 lissencephaly 10 A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31.

1 Parent Term

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