FB2025_05 , released December 11, 2025

CV Term Report

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General Information
Term	pontocerebellar hypoplasia type 1	ID (Ontology)	DOID:0112322 (Human Disease)
Definition	A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.
Also Known As	"Norman disease" ; "PCH1" ; "pontocerebellar hypoplasia with anterior horn cell disease" (for all, see Synonyms field below)
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available

Spanning Tree (Parents/Children)

  neurodegenerative disease
   |__pontocerebellar hypoplasia
       |__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.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	pontocerebellar hypoplasia
Part of
Synonyms & Secondary IDs
Synonyms
	"Norman disease" EXACT "PCH1" EXACT OMO:0003012 "pontocerebellar hypoplasia with anterior horn cell disease" EXACT "pontocerebellar hypoplasia with infantile spinal muscular atrophy" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:10704 MESH:C548069 ORDO:2254