Terminology Service for NFDI4Health

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. [ ]

Term info

Label

hawkinsinuria

Synonyms
  • 4-HPPD deficiency
  • 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
  • 4-hydroxyphenylpyruvic acid dioxygenase deficiency
  • hawkinsinuria
database cross reference
Subsets

gard_rare, ordo_disease

exactMatch

http://identifiers.org/snomedct/414380008, http://purl.obolibrary.org/obo/Orphanet_2118, http://purl.obolibrary.org/obo/DOID_0111362, http://identifiers.org/mesh/C535845, https://omim.org/entry/140350, http://linkedlifedata.com/resource/umls/id/C2931042

id

MONDO:0007700

narrowMatch

https://icd.codes/icd10cm/E70.2

see also

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

Term relations