severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
MONDO:0017855
T-B- severe combined immunodeficiency
is_a
MONDO:0021190
DNA repair disease
is_a
MONDO:0031520
familial severe combined immunodeficiency
is_a
DCLRE1C severe combined immunodeficiency (disease)
exact
SCID due to ARTEMIS deficiency
exact
SCID due to DCLRE1C deficiency
exact
SCID due to artemis deficiency
exact
SCID, Athabascan type
exact
SCID, Athabaskan type
exact
SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation
related
severe combined immunodeficiency (disease) caused by mutation in DCLRE1C
exact
severe combined immunodeficiency due to ARTEMIS deficiency
exact
severe combined immunodeficiency due to DCLRE1C deficiency
exact
severe combined immunodeficiency due to artemis deficiency
exact
severe combined immunodeficiency with sensitivity to ionising radiation
related