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DO Term : pontocerebellar hypoplasia type 1 [DOID:0112322] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
MESH:C548069,
PCH1,
Norman disease,
pontocerebellar hypoplasia with anterior horn cell disease,
GARD:10704,
pontocerebellar hypoplasia with infantile spinal muscular atrophy,
ORDO:2254

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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