has material basis in germline mutation in
disease has feature
HPD
Hypertyrosinemia
tyrosinemia
tyrosinemia type III
https://github.com/monarch-initiative/mondo/issues/4985
https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3
4-Hydroxyphenylpyruvate dioxygenase deficiency
4-Hydroxyphenylpyruvic acid oxidase deficiency
UMLS:C0268623
SCTID:415764005
tyrosinemia type III
GARD:10332
TYRSN3
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
Orphanet:69723
OMIM:276710
tyrosinemia due to HPD deficiency
ICD9:270.2
tyrosinemia, type III
4-alpha hydroxyphenylpyruvate dioxygenase deficiency
MedDRA:10069461
tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
DOID:0050727
tyrosinemia, type 3
tyrosinemia type 3
4-alpha hydroxyphenylpyruvic acid oxidase deficiency
tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
MONDO:0010162