has material basis in germline mutation in disease has feature TAT Keratitis Palmoplantar hyperkeratosis Intellectual disability Hypertyrosinemia tyrosinemia eye disorder tyrosinemia type II https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 https://www.malacards.org/card/tyrosinemia_type_ii_2 UMLS:C0268487 tyrosinemia due to tyrosine aminotransferase deficiency Tat deficiency GARD:0003105 Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. icd11.foundation:1900229795 MedDRA:10069463 Oregon type tyrosinemia OMIM:276600 Richner-Hanhart syndrome NCIT:C129032 Tyrosinosis, oculocutaneous type tyrosinemia, type 2 tyrosine aminotransferase deficiency oculocutaneous tyrosinemia MONDO:0010160 TYRSN2 tyrosinemia, type II tyrosine transaminase deficiency keratosis palmoplantaris with corneal dystrophy Richner Hanhart syndrome tyrosinemia due to TAT deficiency Tyrosinosis oculocutaneous type SCTID:4887000 NANDO:1200789 Orphanet:28378 keratosis palmoplantaris-corneal dystrophy syndrome tyrosinemia type 2 tyrosinemia type II MEDGEN:75687 NANDO:2200469 DOID:0050725 focal palmoplantar keratoderma