|  Help  |  About  |  Contact Us

DO Term : pontocerebellar hypoplasia type 2D [DOID:0060270] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
  • synonyms:
  • OMIM:613811,
  • ORDO:2524,
  • ICD10CM:Q04.3,
  • 613811
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