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http://www.w3.org/2002/07/owl#
ldp
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About:
Purine-nucleoside phosphorylase deficiency
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Type:
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New Facet based on Instances of this Class
Attributes
Values
label
purine-nucleoside phosphorylase deficiency
ASSOCIATED_WITH
deoxyguanosine kinase activity
schema:identifier
c0268125
ISA
Hereditary Diseases
Metabolic Diseases
Immunologic Deficiency Syndromes
CAUSES
Immunologic Deficiency Syndromes
Primary immune deficiency disorder
Cerebellar Diseases
Immune defect
PROCESS_OF
C0030705
Family
Human
Child
Mus
Girls
Infant, Newborn
OCCURS_IN
C0030705
is
LOCATION_OF
of
Brain
Blood
is
COEXISTS_WITH
of
Congenital Abnormality
Severe Combined Immunodeficiency
Lymphoproliferative Disorders
Deficiency, immune
Hypouricemia
is
ASSOCIATED_WITH
of
Neurologic Symptoms
Deoxycytidine
Tetrahydrouridine
is
TREATS
of
Therapeutic procedure
Hematopoietic Stem Cell Transplantation
Infusion procedures
Transfusion - action
allopurinol riboside
is
AFFECTS
of
Immunity
Purine-Nucleoside Phosphorylase|PNP
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