ZFIN Human Disease: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

OBO ID: DOID:0090013

OBO ID: DOID:0090013

Term Name:	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	Search Ontology:
Synonyms:	SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency
Definition:	A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. https://www.ncbi.nlm.nih.gov/pubmed/1940786
References:	ICD10CM:D81.1 MESH:C563311 OMIM:601457 ORDO:331206
Ontology:	Human Disease ( DOID:0090013 )

Relationships

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

OTHER severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RAG1	rag1	Severe combined immunodeficiency, B cell-negative	601457
RAG2	rag2	Severe combined immunodeficiency, B cell-negative	601457

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None