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Disease Ontology Browser
pontocerebellar hypoplasia type 1 (DOID:0112322)
Alliance: disease page
Synonyms: Norman disease; PCH1; pontocerebellar hypoplasia with anterior horn cell disease; pontocerebellar hypoplasia with infantile spinal muscular atrophy
Alt IDs: MESH:C548069, ORDO:2254
Definition: A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
06/12/2024
MGI 6.13 		The Jackson Laboratory