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hawkinsinuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0007700

Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. [ Orphanet:2118 ]

Synonyms: 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency hawkinsinuria 4-hydroxyphenylpyruvic acid dioxygenase deficiency 4-HPPD deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:5668 (MONDO:GARD)
  • Orphanet:2118 (OMIM:140350)
  • UMLS:C2931042 (MONDO:equivalentTo)
  • MESH:C535845 (Orphanet:2118/e)
  • MEDGEN:419319 (MONDO:equivalentTo)
  • DOID:0111362 (MONDO:equivalentTo)
  • SCTID:414380008 (MONDO:equivalentTo)
  • OMIM:140350 (Orphanet:2118/e)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://identifiers.org/snomedct/414380008

http://www.orpha.net/ORDO/Orphanet_2118

http://identifiers.org/medgen/419319

http://identifiers.org/mesh/C535845

http://purl.obolibrary.org/obo/DOID_0111362

https://omim.org/entry/140350

http://linkedlifedata.com/resource/umls/id/C2931042

id

MONDO:0007700

seeAlso

https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria

Term relations