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Metadata
ID	DOID:0060275
Name	pontocerebellar hypoplasia type 6
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. https://pubmed.ncbi.nlm.nih.gov/17847012/, https://www.omim.org/entry/611523
Xrefs	GARD:10710 MESH:C548074 MIM:611523 ORDO:166073 SNOMEDCT_US_2023_03_01:718606005 UMLS_CUI:C1969084
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia