Search Ontology:

Human Disease

pontocerebellar hypoplasia type 1

Term ID

DOID:0112322

Synonyms

Norman disease
PCH1
pontocerebellar hypoplasia with anterior horn cell disease
pontocerebellar hypoplasia with infantile spinal muscular atrophy

Definition

A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. (2)

References

GARD:10704
MESH:C548069
ORDO:2254

Ontology

Human Disease ( DOID:0112322 )

Relationships

is a type of: pontocerebellar hypoplasia

pontocerebellar hypoplasia Show first 5 Terms
has subtype: pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1C pontocerebellar hypoplasia type 1D pontocerebellar hypoplasia type 1E ... Show All 6 Terms

pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 1C pontocerebellar hypoplasia type 1D pontocerebellar hypoplasia type 1E pontocerebellar hypoplasia type 1F Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations