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DO Term : pontocerebellar hypoplasia type 2C [DOID:0060269] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
  • synonyms:
  • UMLS_CUI:C2676465,
  • ORDO:2524,
  • MESH:C567324,
  • 612390,
  • OMIM:612390
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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