pontocerebellar hypoplasia type 1

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Summary

Literature (0)

DOID:0112322 - pontocerebellar hypoplasia type 1

Disease Ontology Definition:A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.

Synonyms: Norman disease, PCH1, pontocerebellar hypoplasia with anterior horn cell disease, pontocerebellar hypoplasia with infantile spinal muscular atrophy

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

: exosc8, exosc3, exosc9, vrk1

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)