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DO Term : pontocerebellar hypoplasia type 16 [DOID:0112333] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.
  • synonyms:
  • 619527,
  • OMIM:619527,
  • PCH16
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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