loading...| Preferred Name |
Tyrosinemia Type I |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98641 |
| code |
C98641 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD CCPS Cellosaurus |
| DEFINITION |
Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma. |
| FULL_SYN |
Tyrosinemia Type I Type I Tyrosinemia |
| label |
Tyrosinemia Type I |
| Preferred_Name |
Tyrosinemia Type I |
| prefixIRI |
Thesaurus:C98641 |
| prefLabel |
Tyrosinemia Type I |
| Related_To_Genetic_Biomarker | |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C3844598 |
| subClassOf |