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
tyrosinemia due to tyrosine aminotransferase deficiency
Tat deficiency
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
MedDRA:10069463
Oregon type tyrosinemia
OMIM:276600
GARD:3105
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
Orphanet:28378
keratosis palmoplantaris-corneal dystrophy syndrome
tyrosinemia type 2
tyrosinemia type II
DOID:0050725
focal palmoplantar keratoderma