severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive - Ontology Report

ONTOLOGY REPORT - ANNOTATIONS

Term:	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	go back to main search page
Accession:	DOID:0090013	browse the term
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. (DO)
Synonyms:	exact_synonym:	ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY; OMIA:001986; SCID due to complete RAG1-2 deficiency; SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive; SEVERE IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T-CELL NEGATIVE, B-CELL NEGATIVE, NK CELL-POSITIVE; Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive; severe combined immunodeficiency due to complete RAG1-2 deficiency; severe combined immunodeficiency, B cell-negative
	related_synonym:	severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation
	primary_id:	MESH:C563311
	alt_id:	OMIA:001574; OMIM:601457; RDO:0012607
	xref:	ORDO:331206
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Rat (4) Mouse (4) Human (109) Chinchilla (4) Bonobo (4) Dog (4) Squirrel (4) Pig (5) All
Genes (4)

Symbol

Object Name

JBrowse

Chr

Start

Stop

Reference

Jak3

Janus kinase 3

20,107,471

20,120,678

protein kinase, DNA-activated, catalytic subunit

89,293,547

89,510,948

recombination activating 1

91,206,394

91,217,491

recombination activating 2

91,191,837

91,200,134

Term paths to the root

Path 1
Term	Annotations
disease	15619
Developmental Diseases	8737
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	7519
Infant, Newborn, Diseases	411
severe combined immunodeficiency	52
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	4
Path 2
Term	Annotations
disease	15619
Developmental Diseases	8737
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	7519
genetic disease	7008
monogenic disease	4561
X-linked monogenic disease	847
combined T cell and B cell immunodeficiency	67
severe combined immunodeficiency	52
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	4

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

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Functional Annotation	Annotation Distribution	Genomic Variants

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Protein-Protein Interactions	Genome Viewer	Damaging Variants

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