|  Help  |  About  |  Contact Us

DO Term : pontocerebellar hypoplasia type 1A [DOID:0060265] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.
  • synonyms:
  • 607596,
  • ORDO:2254,
  • OMIM:607596
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