about
Arts syndromemitochondrial DNA depletion syndrome 3Adenine phosphoribosyltransferase deficiencyinosine triphosphatase deficiencyITPA-related encephalopathyphosphoribosylpyrophosphate synthetase superactivityAICA-ribosiduriaX-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromehemolytic anemia due to erythrocyte adenosine deaminase overproductionhypoxanthine-guanine phosphoribosyltransferase deficiency
P279
Q11852863-385173E4-A525-45AF-87ED-275365102AFDQ26492815-2C435FD9-0FFE-41A1-9120-EC180ED4CE84Q4682223-9D148018-EA1C-48FF-81CC-28E49358C465Q54361681-64194d12-4ffa-9491-e45c-69795661a901Q55345900-06710BA5-27A5-4468-A1D9-2773731A6713Q55782468-C45DD340-99DC-47AA-94A1-69D23BA363D9Q55783600-A323A58B-E14C-4C41-8A8F-4CB6C228392EQ55788124-6B9CA1E3-FBF9-4064-8ED6-61FC15E238FCQ55789399-E3C42073-9498-4901-97D2-BC357A2A6F9DQ56013793-ec01277e-4a62-8d8f-e93b-e7ae7781df7a
P279
description
acquired metabolic disease tha ...... e nucleobase metabolic process
@en
name
inborn disorder of purine metabolism
@en
trouble du metabolisme de la purine
@fr
type
label
inborn disorder of purine metabolism
@en
trouble du metabolisme de la purine
@fr
altLabel
Disorder of purine metabolism
@en
inborn error of purine nucleobase metabolic process
@en
rare inborn error of purine nucleobase metabolic process
@en
prefLabel
inborn disorder of purine metabolism
@en
trouble du metabolisme de la purine
@fr
P1550
P2888
P2892
P5270
MONDO:0019236