WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0112202
Child Term . Identifier  DOID:0080413 Direct  true
Redundant  false

1 Child Term

Identifier Name Description
DOID:0080413 developmental and epileptic encephalopathy 18 A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.

1 Parent Term

Identifier Name Description
DOID:0112202 developmental and epileptic encephalopathy An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.