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Metadata
ID DOID:0060264
Name pontocerebellar hypoplasia
Definition A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition
Xrefs

GARD:10977

MESH:C580383

OMIM:PS607596

SNOMEDCT_US_2023_03_01:45163000

UMLS_CUI:C0266468

Subsets

DO_rare_slim

Synonyms

PCH [EXACT]

Parent Relationships

is_a neurodegenerative disease

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