see tyrosinemia, type II, under tyrosinemia.
Farlex Partner Medical Dictionary © Farlex 2012
tyrosinaemia type 2An autosomal recessive metabolic defect (OMIM:276600) characterised by a marked elevation of tyrosine in the blood and urine, oculocutaneous manifestations (e.g., palmoplantar keratosis, painful corneal ulcers), and mental retardation.
Defects in TAT, which encodes tyrosine aminoaminotransferase, cause tyrosinaemia type 2.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Hanhart,Ernst, Swiss internist and geneticist, 1891-1973.
Hanhart syndrome - hypoplasia of the mandible with malformed and missing teeth, birdlike face, and severe deformities of the hands and forearms and sometimes of feet and legs. Synonym(s): micrognathia with peromelia
Richner-Hanhart syndrome - see under Richner
Richner,Herman, Swiss dermatologist, 1908–.
Richner-Hanhart syndrome - an autosomal disorder with several anomalies and includes mental retardation. Synonym(s): type II tyrosinemia
Medical Eponyms © Farlex 2012