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Disease association ontology term - MONDO:0019254 - inborn disorder of purine or pyrimidine metabolism

Term summary

ID
MONDO:0019254
Name
inborn disorder of purine or pyrimidine metabolism
Ontology or CV name
Disease association

Parents

Annotation

Disease association

MONDO:0019254 - inborn disorder of purine or pyrimidine metabolism

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Genes:

MONDO:0013869 - adenine phosphoribosyltransferase deficiency

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Genes:

MONDO:0007068 - adenylosuccinate lyase deficiency

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Genes:

MONDO:0012099 - AICA-ribosiduria

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MONDO:0011534 - Charcot-Marie-Tooth disease type 4G

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MONDO:0010699 - Charcot-Marie-Tooth disease X-linked recessive 5

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MONDO:0014719 - developmental and epileptic encephalopathy, 35

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MONDO:0014647 - developmental and epileptic encephalopathy, 50

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MONDO:0013587 - glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

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MONDO:0013047 - glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

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MONDO:0013046 - glycogen storage disease due to muscle beta-enolase deficiency

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MONDO:0010392 - glycogen storage disease due to phosphoglycerate kinase 1 deficiency

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MONDO:0009865 - glycogen storage disease due to phosphoglycerate mutase deficiency

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MONDO:0009295 - glycogen storage disease VII

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MONDO:0013275 - hemolytic anemia due to glucophosphate isomerase deficiency

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MONDO:0011236 - hyperinsulinemic hypoglycemia, familial, 3

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MONDO:0010299 - hypoxanthine guanine phosphoribosyltransferase partial deficiency

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MONDO:0010298 - Lesch-Nyhan syndrome

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MONDO:0018911 - maturity-onset diabetes of the young

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MONDO:0014674 - maturity-onset diabetes of the young type 14

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MONDO:0007453 - maturity-onset diabetes of the young type 2

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MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

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MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

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MONDO:0009340 - non-spherocytic hemolytic anemia due to hexokinase deficiency

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MONDO:0009797 - orotic aciduria

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MONDO:0100165 - permanent neonatal diabetes mellitus 1

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MONDO:0010395 - phosphoribosylpyrophosphate synthetase superactivity

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MONDO:0013171 - purine nucleoside phosphorylase deficiency

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MONDO:0009950 - pyruvate kinase deficiency of red cells

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Genes:

MONDO:0007064 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

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MONDO:0014221 - triosephosphate isomerase deficiency

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