tyrosinemia type II
(Q7484623)
tyrosinemia that has material basis in deficiency of hepatic tyrosine aminotransferase located in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels
tyrosinemia that has material basis in deficiency of hepatic tyrosine aminotransferase located in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels
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Current Data About
tyrosinemia type II
other details
aliases |
Oculocutaneous tyrosinemia Richner-Hanhart syndrome Hypertyrosinemia type II Tyrosinemia II Hereditary tyrosinemia, Type II TYRSN2 |
description | tyrosinemia that has material basis in deficiency of hepatic tyrosine aminotransferase located in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels |
External Links
(P492) |
276600
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(P493) |
270.2
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(P494) |
E70.2
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(P557) |
13486
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(P699) |
DOID:0050725
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(P1550) |
28378
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(P4233) |
tyrosinemia-type-ii
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(P4317) |
3105
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(P5270) |
MONDO_0010160
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(P6366) |
2776374240
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(P7329) |
5C50.12
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(P7807) |
1900229795
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(P11430) |
DI-01108
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