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Metadata
ID DOID:0060025
Name immunoglobulin alpha deficiency
Definition A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.
http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205, http://www.ncbi.nlm.nih.gov/gene/973?
Xrefs

GARD:10197

MESH:D017098

OMIM:137100

OMIM:269650

OMIM:609529

ORDO:69127

SNOMEDCT_US_2023_03_01:29260007

UMLS_CUI:C0162538

Subsets

DO_rare_slim

Synonyms

gamma-A-globulin deficiency [EXACT]

IgA deficiency [EXACT]

Parent Relationships

is_a B cell deficiency

is_a autosomal recessive disease

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