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Mondo Disease Ontology
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009345 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009345 |
|
| database_cross_reference |
SCTID:410058007 NORD:1245 icd11.foundation:261052955 DOID:0060168 UMLS:C0220992 Orphanet:2157 GARD:6661 MESH:C538320 MEDGEN:113135 OMIM:235800 ICD10CM:E70.41
|
|
| definition |
Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
|
|
| has_exact_synonym |
HIS deficiency histidine ammonia-lyase deficiency hyperhistidinemia Hal deficiency histidinuria histidase deficiency histidinemia Histidinuria
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|
| IAO_0000233 | ||
| id |
MONDO:0009345
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#mostly_harmless |
|
| label |
histidinemia
|
|
| notation |
MONDO:0009345
|
|
| prefLabel |
histidinemia
|
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6661/histidinemia |
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| skos_exactMatch |
http://identifiers.org/mesh/C538320 http://purl.obolibrary.org/obo/DOID_0060168 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/261052955 http://linkedlifedata.com/resource/umls/id/C0220992 http://purl.bioontology.org/ontology/ICD10CM/E70.41 http://identifiers.org/snomedct/410058007 http://identifiers.org/medgen/113135 |
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