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Summary Literature (0)
DOID:0060275 - pontocerebellar hypoplasia type 6

Disease Ontology Definition:A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.

Synonyms:

Xenbase Genes : rars2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012683 - pontocerebellar hypoplasia type 6

MIM:
MIM:611523 - PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6

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)