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DO Term : pontocerebellar hypoplasia type 8 [DOID:0060277] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
  • synonyms:
  • ICD10CM:Q04.3,
  • OMIM:614961,
  • ORDO:324569,
  • 614961
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents