ORPHA:207025
Rare hereditary neurologic 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 neurologic disease with peripheral neuropathy | |
| fr | Maladie neurologique héréditaire avec neuropathie périphérique | |
| de | Seltene erbliche neurologische Krankheit mit peripherer Neuropathie | |
| es | Enfermedad neurológica rara hereditaria con neuropatía periférica | |
| it | Malattia neurologica ereditaria rara con neuropatia periferica | |
| nl | Zeldzame erfelijke neurologische ziekte met perifere neuropathie | |
| pt | Doença rara hereditária neurológica com neuropatia periférica | |
| pl | Rzadka dziedziczna choroba neurologiczna z neuropatią obwodową | |
| cs | Vzácná hereditární neurologická onemocnění s periferní neuropatií | |
| uk | Рідкісне спадкове неврологічне захворювання з периферичною нейропатією | |
| zh | 罕见遗传性神经性疾病伴周围神经病 | |
| tr | Periferik nöropati ile seyreden nadir kalıtsal nörolojik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16135 | E | validated | |
| UMLS | C5680816 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:207015Rare hereditary disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
Children (4):
- ORPHA:1239Behr syndrome
- ORPHA:610573CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
- ORPHA:207028Cerebellar ataxia with peripheral neuropathy
- ORPHA:694937Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/207025
- This record as JSON: /data/d/207025.json