ZFIN Human Disease: immunodeficiency 61

OBO ID: DOID:0111999

Term Name:	immunodeficiency 61		Search Ontology:
Synonyms:	IMD61
Definition:	A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. https://pubmed.ncbi.nlm.nih.gov/29636373/
References:	MESH:C538057 OMIM:300310 UMLS_CUI:C1845903
Ontology:	Human Disease ( DOID:0111999 )

Relationships

is a type of:	autosomal recessive disease B cell deficiency autosomal recessive disease B cell deficiency Show first 5 Terms

OTHER immunodeficiency 61 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SH3KBP1	sh3kbp1	?Immunodeficiency 61	300310

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None