ORPHA:207015
Rare hereditary disease with peripheral neuropathy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare hereditary disease with peripheral neuropathy | |
| fr | Maladie rare héréditaire avec neuropathie périphérique | |
| de | Seltene Erbkrankheit mit peripherer Neuropathie | |
| es | Enfermedad rara hereditaria con neuropatía periférica | |
| it | Malattia ereditaria rara con neuropatia periferica | |
| nl | Zeldzame erfelijke ziekte met perifere neuropathie | |
| pt | Doença rara hereditária com neuropatia periférica | |
| pl | Rzadka choroba dziedziczna z neuropatią obwodową | |
| cs | Vzácná hereditární onemocnění s periferní neuropatií | |
| uk | Рідкісне спадкове захворювання з периферичною нейропатією | |
| zh | 罕见遗传性疾病伴周围神经病 | |
| tr | Periferik nöropati ile seyreden nadir kalıtsal hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16132 | E | validated | |
| UMLS | C5680817 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases
Children (8):
- ORPHA:352723Attenuated Chédiak-Higashi syndrome
- ORPHA:167Chédiak-Higashi syndrome
- ORPHA:707937Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome
- ORPHA:171848Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
- ORPHA:207025Rare hereditary neurologic disease with peripheral neuropathy
- ORPHA:207021Rare hereditary systemic disease with peripheral neuropathy
- ORPHA:869Triple A syndrome
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/207015
- This record as JSON: /data/d/207015.json