disease has basis in dysfunction of disease has feature FAH Hypertyrosinemia tyrosinemia tyrosinemia type I DOID:0050726 FAH deficiency Fah deficiency GARD:0002658 ICD10:E70.2 MONDO:0010161 MedDRA:10069462 NCIT:C98641 OMIM:276700 Orphanet:882 SCTID:410056006 TYRSN1 Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. UMLS:C0268490 fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 type I tyrosinemia tyrosinemia type 1 tyrosinemia type I tyrosinemia, type 1 tyrosinemia, type I polymalformative genetic syndrome with increased risk of developing cancer rare hereditary metabolic disease with peripheral neuropathy nephropathy secondary to a storage or other metabolic disease