has material basis in germline mutation in disease has feature FAH Hypertyrosinemia tyrosinemia tyrosinemia type I https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 https://www.malacards.org/card/tyrosinemia_type_i_2 MEDGEN:75688 UMLS:C0268490 hepatorenal tyrosinemia MONDO:0010161 tyrosinemia type 1 SCTID:410056006 tyrosinemia type I fumarylacetoacetate hydrolase deficiency fumarylacetoacetase deficiency DOID:0050726 tyrosinemia, type I Fah deficiency FAH deficiency icd11.foundation:2029519782 NORD:1811 MedDRA:10069462 NANDO:2200468 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. tyrosinemia, type 1 type I tyrosinemia OMIM:276700 Tyrosinemia Type 1 NCIT:C98641 NANDO:1200788 Orphanet:882 GARD:0002658 TYRSN1 obsolete nephropathy secondary to a storage or other metabolic disease hereditary peripheral neuropathy