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urocanic aciduria

Go to external page http://purl.obolibrary.org/obo/MONDO_0010167

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. [ Orphanet:210128 ]

Synonyms: urocanic aciduria urocanic aciduria (disease) encephalopathy due to urocanase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:276880 (Orphanet:210128/e)
  • Orphanet:210128 (OMIM:276880)
  • GARD:8539 (Orphanet:210128)
  • MESH:C536479 (MONDO:equivalentTo)
  • UMLS:C0268514 (Orphanet:210128)
  • SCTID:60952007 (MONDO:equivalentTo)
  • HP:0012237 (MONDO:otherHierarchy)
  • DOID:0112180 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

IAO 0000589

urocanic aciduria (disease)

exactMatch

http://www.orpha.net/ORDO/Orphanet_210128

http://linkedlifedata.com/resource/umls/id/C0268514

http://identifiers.org/mesh/C536479

https://omim.org/entry/276880

http://identifiers.org/snomedct/60952007

http://purl.obolibrary.org/obo/DOID_0112180

has related synonym

urocanase deficiency

UROCD

id

MONDO:0010167

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010167

Term relations