WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:4
Child Term . Identifier  DOID:0112206 Direct  false
Redundant  false
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1 Child Term

Identifier Name Description
DOID:0112206 developmental and epileptic encephalopathy 70 A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1.

1 Parent Term

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.