Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
autosomal recessive disease
inborn error of metabolism |
| gptkbp:affects |
tyrosine metabolism
|
| gptkbp:alsoKnownAs |
Richner-Hanhart syndrome
|
| gptkbp:characterizedBy |
intellectual disability
skin lesions corneal ulcers elevated tyrosine levels |
| gptkbp:firstDescribed |
Richner and Hanhart
|
| https://www.w3.org/2000/01/rdf-schema#label |
tyrosinemia type II
|
| gptkbp:ICD-10_code |
E70.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
TAT gene
|
| gptkbp:OMIM |
276600
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptomsAppearIn |
infancy or early childhood
|
| gptkbp:treatment |
dietary restriction of tyrosine and phenylalanine
|
| gptkbp:bfsParent |
gptkb:tyrosine_aminotransferase
|
| gptkbp:bfsLayer |
8
|