pontocerebellar hypoplasia type 2

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Summary

Literature (0)

DOID:0112328 - pontocerebellar hypoplasia type 2

Disease Ontology Definition:A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.

Synonyms: PCH2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sepsecs, tsen54, tsen15, vps53, tsen2, tsen34

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): pontocerebellar hypoplasia (is_a)