loading...| Preferred Name |
tyrosinemia type II |
|
| Synonyms |
oculocutaneous tyrosinemia Richner-Hanhart syndrome keratosis palmoplantaris-corneal dystrophy syndrome tyrosinemia due to tyrosine aminotransferase deficiency tyrosinemia type II tyrosinemia due to TAT deficiency Oregon type tyrosinemia tyrosine transaminase deficiency tyrosinemia, type 2 Tyrosinosis oculocutaneous type Tyrosinosis, oculocutaneous type tyrosinemia, type II TYRSN2 keratosis palmoplantaris with corneal dystrophy Richner Hanhart syndrome Tat deficiency tyrosine aminotransferase deficiency tyrosinemia type 2 |
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| Definitions |
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010160 |
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| has_exact_synonym |
oculocutaneous tyrosinemia Richner-Hanhart syndrome keratosis palmoplantaris-corneal dystrophy syndrome tyrosinemia due to tyrosine aminotransferase deficiency tyrosinemia type II tyrosinemia due to TAT deficiency |
|
| has_related_synonym |
Oregon type tyrosinemia tyrosine transaminase deficiency tyrosinemia, type 2 Tyrosinosis oculocutaneous type Tyrosinosis, oculocutaneous type tyrosinemia, type II TYRSN2 keratosis palmoplantaris with corneal dystrophy Richner Hanhart syndrome Tat deficiency tyrosine aminotransferase deficiency tyrosinemia type 2 |
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| IAO_0000233 | ||
| label |
tyrosinemia type II |
|
| prefixIRI |
MONDO:0010160 |
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| prefLabel |
tyrosinemia type II |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 |
|
| textual definition |
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017672 |