FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pontocerebellar hypoplasia ID (Ontology) DOID:0060264 (Human Disease)
Definition A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
Also Known As "PCH"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Human Disease Models
 pontocerebellar hypoplasia       1
Spanning Tree (Parents/Children)
Only view relationship:
  central nervous system disease
   |__neurodegenerative disease
       |__pontocerebellar hypoplasia  42 rec.
           |__pontocerebellar hypoplasia type 1 14 rec.
           |   |__pontocerebellar hypoplasia type 1A 2 rec.
           |   |__pontocerebellar hypoplasia type 1B 7 rec.
           |   |__pontocerebellar hypoplasia type 1C 1 rec.
           |   |__pontocerebellar hypoplasia type 1D 1 rec.
           |   |__pontocerebellar hypoplasia type 1E 2 rec.
           |   |__pontocerebellar hypoplasia type 1F 1 rec.
           |__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
           |__pontocerebellar hypoplasia type 3
           |__pontocerebellar hypoplasia type 4 7 rec.
           |__pontocerebellar hypoplasia type 5 1 rec.
           |__pontocerebellar hypoplasia type 6 1 rec.
           |__pontocerebellar hypoplasia type 7
           |__pontocerebellar hypoplasia type 8 1 rec.
           |__pontocerebellar hypoplasia type 9 1 rec.
           |__pontocerebellar hypoplasia type 10 6 rec.
           |__pontocerebellar hypoplasia type 11 1 rec.
           |__pontocerebellar hypoplasia type 12 1 rec.
           |__pontocerebellar hypoplasia type 13 1 rec.
           |__pontocerebellar hypoplasia type 14 1 rec.
           |__pontocerebellar hypoplasia type 15 1 rec.
           |__pontocerebellar hypoplasia type 16 2 rec.
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Is a neurodegenerative disease
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Synonyms
  • "PCH" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:10977
MESH:C580383
MIM:PS607596
SNOMEDCT_US_2023_03_01:45163000
UMLS_CUI:C0266468