short-limb skeletal dysplasia with severe combined immunodeficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
MONDO:0017855
T-B- severe combined immunodeficiency
is_a
SLSD with SCID
related
achondroplasia and Swiss type agammaglobulinemia
related
achondroplasia and Swiss-type agammaglobulinemia
related
achondroplasia and severe combined immunodeficiency
related
achondroplasia so-called and severe combined immunodeficiency
related
achondroplasia-SCID syndrome
exact
achondroplasia-Swiss type agammaglobulinemia syndrome
exact
achondroplasia-severe combined immunodeficiency syndrome
exact
agammaglobulinemia and achondroplasia
related
immunodeficiency-short limb dwarfism syndrome
exact
short limb skeletal dysplasia with SCID
exact
short-limb skeletal dysplasia with severe combined immunodeficiency
exact