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:
Ontology: Human Disease   (DOID:0090013)
Relationships
is a type of:
OTHER severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAG1 Severe combined immunodeficiency, B cell-negative 601457
RAG2 Severe combined immunodeficiency, B cell-negative 601457
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None