ZFIN Human Disease: severe combined immunodeficiency with sensitivity to ionizing radiation

OBO ID: DOID:0090012

Term Name:	severe combined immunodeficiency with sensitivity to ionizing radiation		Search Ontology:
Synonyms:	artemis deficiency SCID due to artemis deficiency SCID due to DCLRE1C deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type
Definition:	A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. https://www.ncbi.nlm.nih.gov/pubmed/11336668
References:	ICD10CM:D81.1 MESH:C537589 OMIM:602450 ORDO:275
Ontology:	Human Disease ( DOID:0090012 )

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 with sensitivity to ionizing radiation PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DCLRE1C	dclre1c	Severe combined immunodeficiency, Athabascan type	602450

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None