CUI ⟾ or DBPEDIA ⟾
Ex: C0006933 C0007102 C0007203 C3175196    or    http://dbpedia.org/resource/Nosebleed    http://dbpedia.org/resource/Leg

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 —
http://dbpedia.org/resource/Argininosuccinic_acid C0003777 C0368700
http://dbpedia.org/resource/Disease C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542
http://dbpedia.org/resource/Synthesizer C0391871 C1261512 C1707974 C1710261 C0182158 C1710269 C1882271 C1883254 C2347441
http://dbpedia.org/resource/Biosynthesis C0220781
http://dbpedia.org/resource/Lyase C0024188
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Organic_acidemia C0241775 C0268594 C0268596 C0278026 C0342712 C1829844 C1865353
http://dbpedia.org/resource/Urea_cycle C0597619 C0599588 C1510938
http://dbpedia.org/resource/Argininosuccinate_lyase C0003775 C1412582
http://dbpedia.org/resource/Acid C0002520 C0949771 C0001128 C0001129 C0596078
http://dbpedia.org/resource/Bioaccumulation C0311432 C4055506
http://dbpedia.org/resource/Acidosis C0001122 C0268030
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Urea_cycle_disorder C0154246
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Urea C0041942 C3214352
http://dbpedia.org/resource/Porphobilinogen_synthase C0002564 C0268328 C1439270

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Adenylosuccinate_lyase_deficiency C0268126 C0268547
http://dbpedia.org/resource/Argininosuccinic_aciduria C0268547


UMLS Concepts to DBPedia Link Discovery Browser


Enter an UMLS concept-unique-identifier (CUI) or DBPEDIA resource uri to show its rdfs:seeAlso, skos:closeMatch, and skos:exactMatch mapped relations to DBpedia. Alternatively, you can click on a CUI from the sample list to the right to compare our mapping to Wikidata.