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Metadata
ID DOID:0112002
Name immunodeficiency 47
Definition A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in ATP6AP1 on chromosome Xq28.
https://pubmed.ncbi.nlm.nih.gov/27231034/
Xrefs

OMIM:300972

UMLS_CUI:C4310819

Synonyms

CDG IIs [EXACT]

CDG2S [EXACT]

CDGIIs [EXACT]

congenital disorder of glycosylation type IIs [EXACT]

IMD47 [EXACT]

immunodeficiency and hepatopathy with or without neurologic features [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a X-linked recessive disease

is_a congenital disorder of glycosylation type II

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