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Summary Literature (0)
DOID:0060274 - pontocerebellar hypoplasia type 5

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.

Synonyms:

Xenbase Genes : tsen54

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012438 - pontocerebellar hypoplasia type 5

MIM:
MIM:610204 - PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5

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)