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DO Term : pontocerebellar hypoplasia type 9 [DOID:0060278] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
  • synonyms:
  • 615809,
  • ORDO:369920,
  • ICD10CM:Q04.3,
  • OMIM:615809
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents