ataxia telangiectasia
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
MONDO:0019293
skin vascular disease
excluded_subClassOf
MONDO:0042983
neurocutaneous syndrome
excluded_subClassOf
MONDO:0015131
combined immunodeficiency
is_a
MONDO:0019852
inherited primary ovarian failure
is_a
MONDO:0100310
hereditary cerebellar ataxia
is_a
AT
related
AT1
related
Louis-Bar syndrome
exact
ataxia - telangiectasia
exact
ataxia telangiectasia
exact
ataxia telangiectasia syndrome
exact
cerebello-oculocutaneous telangiectasia
related
immunodeficiency with ataxia telangiectasia
related
SPCC23B6.03c