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. (3)
References
Ontology
Human Disease   ( DOID:0112322 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models