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Items: 2

1.

NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM

MedGen UID:
864715
Concept ID:
C4016278
Finding
2.

Purine-nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992). [from OMIM]

MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome

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