ORPHA:2168
Homocarnosinosis
inactive · moved to ORPHA:2822Autosomal recessive spastic paraplegia type 11
Synonyms: Homocarnosinase deficiency
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive spastic paraplegia type 11
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Homocarnosinosis | Homocarnosinase deficiency |
| fr | Homocarnosinose | Déficit en homocarnosinase |
| de | Homocarnosinose | Homocarnosinase-Mangel |
| es | Homocarnosinosis | Deficiencia de homocarnosinasa |
| it | Omocarnosinasi | Deficit di omocarnosinasi |
| nl | Homocarnosinose | Homocarnosinasedeficiëntie |
| pt | Homocarnosinose | Deficiência de homocarnosinase |
| pl | Homokarnozynoza | Niedobór homokarnozynozy |
| cs | Homokarnosinóza | Deficit homokarnosinózy |
| uk | Гомокарнозиноз | Дефіцит гомокарнозинази |
| zh | 高肌肽病 | 高肌肽酶缺乏症 |
| tr | Homokarnosinoz | Homokarnosinaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236130 | E | validated | |
| MeSH | C535328 | E | validated | |
| UMLS | C3495554 | E | validated | |
| GARD | 2730 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Not placed in any Orphanet classification in this release.
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2168
- This record as JSON: /data/d/2168.json