ZFIN Human Disease: immunodeficiency 19

OBO ID: DOID:0111972

Term Name:	immunodeficiency 19		Search Ontology:
Synonyms:	CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
Definition:	A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. (2)
References:	OMIM:615617 UMLS_CUI:C3810147
Ontology:	Human Disease ( DOID:0111972 )

Relationships

is a type of:	autosomal recessive disease severe combined immunodeficiency autosomal recessive disease severe combined immunodeficiency Show first 5 Terms

OTHER immunodeficiency 19 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CD3D		Immunodeficiency 19, severe combined

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None