|
DOID:0060009 - MHC class I deficiency
Disease Ontology Definition:A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.
Synonyms: bare lymphocyte syndrome type I, BLS, TYPE I, BLSI, HLA CLASS I DEFICIENCY
Xenbase Genes
:
tap2,
tap1,
tapbp,
b2m,
LOC116406716
| MONDO:0011476 - MHC class I deficiency |
| MIM:604571 - MHC CLASS I DEFICIENCY 1; MHC1D1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
severe combined immunodeficiency (is_a)