loading...| Preferred Name |
tyrosinemia type III |
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| Synonyms |
tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia due to HPD deficiency tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency tyrosinemia type III 4-Hydroxyphenylpyruvic acid oxidase deficiency tyrosinemia type 3 4-alpha hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia, type 3 4-alpha hydroxyphenylpyruvic acid oxidase deficiency TYRSN3 4-Hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia, type III |
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| Definitions |
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010162 |
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| has_exact_synonym |
tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia due to HPD deficiency tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency tyrosinemia type III |
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| has_related_synonym |
4-Hydroxyphenylpyruvic acid oxidase deficiency tyrosinemia type 3 4-alpha hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia, type 3 4-alpha hydroxyphenylpyruvic acid oxidase deficiency TYRSN3 4-Hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia, type III |
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| IAO_0000233 | ||
| label |
tyrosinemia type III |
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| prefixIRI |
MONDO:0010162 |
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| prefLabel |
tyrosinemia type III |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 |
|
| textual definition |
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. |
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| subClassOf |