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Summary Literature (0)
DOID:0060276 - pontocerebellar hypoplasia type 7

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.

Synonyms:

Xenbase Genes : toe1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013993 - pontocerebellar hypoplasia type 7


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): pontocerebellar hypoplasia (is_a)