has material basis in germline mutation in HPD hawkinsinuria https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria https://www.malacards.org/card/hawkinsinuria hawkinsinuria 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. 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency OMIM:140350 icd11.foundation:786595759 MONDO:0007700 4-HPPD deficiency DOID:0111362 Orphanet:2118 MESH:C535845 SCTID:414380008 MEDGEN:419319 UMLS:C2931042 GARD:0005668 disorder of tyrosine metabolism