|  Help  |  About  |  Contact Us

DO Term : pontocerebellar hypoplasia type 2B [DOID:0060268] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
  • synonyms:
  • ORDO:2524,
  • OMIM:612389,
  • MESH:C567325,
  • 612389,
  • UMLS_CUI:C2676466
Quick Links:
 
Quick Links:
 

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