Richner-Hanhart syndrome

Rich·ner-Han·hart syndrome

(rik'nĕr-hahn'hahrt), see tyrosinemia, type II, under tyrosinemia.

tyrosinaemia type 2

An 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.
Molecular pathology
Defects in TAT, which encodes tyrosine aminoaminotransferase, cause tyrosinaemia type 2.

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 peromeliaRichner-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

单词	richner-hanhart syndrome
释义	Richner-Hanhart syndrome Rich·ner-Han·hart syndrome (rik'nĕr-hahn'hahrt), see tyrosinemia, type II, under tyrosinemia. tyrosinaemia type 2 An 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. Molecular pathology Defects in TAT, which encodes tyrosine aminoaminotransferase, cause tyrosinaemia type 2. 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 peromeliaRichner-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
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