FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pontocerebellar hypoplasia type 2 ID (Ontology) DOID:0112328 (Human Disease)
Definition A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy.
Also Known As "PCH2"
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  neurodegenerative disease
   |__pontocerebellar hypoplasia
       |__pontocerebellar hypoplasia type 2  5 rec.
           |__pontocerebellar hypoplasia type 2A 1 rec.
           |__pontocerebellar hypoplasia type 2B 1 rec.
           |__pontocerebellar hypoplasia type 2C 1 rec.
           |__pontocerebellar hypoplasia type 2D 1 rec.
           |__pontocerebellar hypoplasia type 2E 1 rec.
           |__pontocerebellar hypoplasia type 2F
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Synonyms
  • "PCH2" EXACT OMO:0003012
Secondary IDs
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GARD:10705
MESH:C548070
ORDO:2524