|  Help  |  About  |  Contact Us

DO Term : pontocerebellar hypoplasia type 5 [DOID:0060274] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
  • synonyms:
  • ORDO:166068,
  • SNOMEDCT_US_2023_03_01:718607001,
  • UMLS_CUI:C1857762,
  • OMIM:610204,
  • GARD:10709,
  • MESH:C537745,
  • 610204
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