Link to this page
Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
Jump to:
| Preferred Name | Histidinemia | |
| Synonyms |
Histidase deficiency Histidinuria |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_3355 |
|
| ageOfDeath |
Normal
|
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
Histidase deficiency Histidinuria
|
|
| id_Medline | ||
| id_MeSH |
C538320
|
|
| id_MIM |
235800
|
|
| id_OMS |
E70.8
|
|
| id_Orpha |
2157
|
|
| id_SNOMEDCT |
124628005 410058007
|
|
| id_UMLS |
C0220992
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
disease
|
|
| prefixIRI |
hrdo:pat_id_3355
|
|
| prefLabel |
Histidinemia
|
|
| prevalence |
1-9 / 100 000
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping