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DO Term : pontocerebellar hypoplasia type 1B [DOID:0060266] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
  • synonyms:
  • ORDO:2254,
  • 614678,
  • OMIM:614678
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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