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pontocerebellar hypoplasia

Disease Summary
Associated Targets (18)
Tbio

16

Tchem

1

Tdark

1


Explore Associated Targets
Mondo Description Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.
Disease Ontology Description A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
Mondo Term and Equivalent IDs
MONDO:0020135:  pontocerebellar hypoplasia
GARD:0010977: 
MESH:C580383: 
OMIMPS:607596: 
Orphanet:98523: 
SCTID:45163000: 
UMLS:CN924922: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)