loading...| Preferred Name |
tyrosinemia type I |
|
| Synonyms |
fumarylacetoacetate hydrolase deficiency FAH deficiency fumarylacetoacetase deficiency tyrosinemia type I type I tyrosinemia hepatorenal tyrosinemia tyrosinemia, type 1 TYRSN1 tyrosinemia, type I tyrosinemia type 1 Fah deficiency |
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| Definitions |
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010161 |
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| has_exact_synonym |
fumarylacetoacetate hydrolase deficiency FAH deficiency fumarylacetoacetase deficiency tyrosinemia type I type I tyrosinemia hepatorenal tyrosinemia |
|
| has_related_synonym |
tyrosinemia, type 1 TYRSN1 tyrosinemia, type I tyrosinemia type 1 Fah deficiency |
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| IAO_0000233 | ||
| label |
tyrosinemia type I |
|
| prefixIRI |
MONDO:0010161 |
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| prefLabel |
tyrosinemia type I |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 |
|
| textual definition |
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004741 http://purl.obolibrary.org/obo/MONDO_0100191 |