WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0112328
Child Term . Identifier  DOID:0060269 Direct  true
Redundant  false
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1 Child Term

Identifier Name Description
DOID:0060269 pontocerebellar hypoplasia type 2C A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.

1 Parent Term

Identifier Name Description
DOID:0112328 pontocerebellar hypoplasia type 2 A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.