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Disease association ontology term - MONDO:0019236 - inborn disorder of purine metabolism

Term summary

ID
MONDO:0019236
Name
inborn disorder of purine metabolism
Ontology or CV name
Disease association
Definition
An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.

Parents

Annotation

Disease association

MONDO:0013869 - adenine phosphoribosyltransferase deficiency

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MONDO:0007068 - adenylosuccinate lyase deficiency

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MONDO:0012099 - AICA-ribosiduria

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Genes:

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:0010299 - hypoxanthine guanine phosphoribosyltransferase partial deficiency

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MONDO:0010298 - Lesch-Nyhan syndrome

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MONDO:0859003 - PAICS deficiency

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MONDO:0010395 - phosphoribosylpyrophosphate synthetase superactivity

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MONDO:0013171 - purine nucleoside phosphorylase deficiency

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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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