loading...| Preferred Name |
hawkinsinuria |
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| Synonyms |
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| Definitions |
An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111362 |
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| definition |
An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. |
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| imported from | ||
| label |
hawkinsinuria |
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| prefixIRI |
DOID:0111362 |
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| prefLabel |
hawkinsinuria |
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| subClassOf |