Search Ontology:
Human Disease
pontocerebellar hypoplasia type 1
- Term ID
- DOID:0112322
- Synonyms
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- 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. (3)
- References
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- GARD:10704
- MESH:C548069
- ORDO:2254
- Ontology
- Human Disease ( DOID:0112322 )
- is a type of
-
- has subtype
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Genes Involved
Zebrafish Models