|  Help  |  About  |  Contact Us

DO Term : hyperimmunoglobulinemia D periodic fever syndrome [DOID:0081450] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24.
  • synonyms:
  • 260920,
  • OMIM:260920,
  • HYPER-IgD SYNDROME,
  • ORDO:343,
  • GARD:2788
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