ZFIN Human Disease: immunodeficiency 47

OBO ID: DOID:0112002

Term Name:	immunodeficiency 47		Search Ontology:
Synonyms:	CDG IIs CDG2S CDGIIs congenital disorder of glycosylation type IIs IMD47 immunodeficiency and hepatopathy with or without neurologic features
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 the ATP6AP1 gene on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/27231034/
References:	OMIM:300972 UMLS_CUI:C4310819
Ontology:	Human Disease ( DOID:0112002 )

Relationships

is a type of:	congenital disorder of glycosylation type II primary immunodeficiency disease X-linked recessive disease congenital disorder of glycosylation type II primary immunodeficiency disease X-linked recessive disease Show first 5 Terms

OTHER immunodeficiency 47 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP6AP1	atp6ap1a atp6ap1b	Immunodeficiency 47	300972

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None