Ex: C0006933 C0007102 C0007203 C3175196    or

CUI: C0268547   Argininosuccinic Aciduria 
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.

rdfs:seeAlso — C0003777 C0368700 C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542 C0391871 C1261512 C1707974 C1710261 C0182158 C1710269 C1882271 C1883254 C2347441 C0220781 C0024188 C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989 C0241775 C0268594 C0268596 C0278026 C0342712 C1829844 C1865353 C0597619 C0599588 C1510938 C0003775 C1412582 C0002520 C0949771 C0001128 C0001129 C0596078 C0311432 C4055506 C0001122 C0268030 C0678236 C0920627 C0154246 C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554 C0041942 C3214352 C0002564 C0268328 C1439270

skos:closeMatch —

skos:exactMatch — C0268126 C0268547 C0268547

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