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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | histidinemia | |
| Synonyms |
HIS deficiency histidine ammonia-lyase deficiency hyperhistidinemia Hal deficiency histidinuria histidase deficiency histidinemia Histidinuria |
|
| Definitions |
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009345 |
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| altLabel |
HIS deficiency histidine ammonia-lyase deficiency hyperhistidinemia Hal deficiency histidinuria histidase deficiency histidinemia Histidinuria
|
|
| definition |
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
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|
| has_exact_synonym |
HIS deficiency histidine ammonia-lyase deficiency hyperhistidinemia Hal deficiency histidinuria histidase deficiency histidinemia Histidinuria
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|
| IAO_0000233 | ||
| label |
histidinemia
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|
| prefixIRI |
MONDO:0009345
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|
| prefLabel |
histidinemia
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|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6661/histidinemia |
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| textual definition |
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
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|
| subClassOf |
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