ORPHA:370106
Rare disorder with dystonia and other neurologic or systemic manifestation
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disorder with dystonia and other neurologic or systemic manifestation | |
| fr | Maladie rare avec dystonie et autres manifestations neurologiques ou systémiques | |
| de | Seltene Störung mit Dystonie und weiteren neurologischen oder systemischen Manifestationen | |
| es | Enfermedad rara con distonía y otra manifestación neurológica o sistémica | |
| it | Disturbo raro con distonia e altro segno neurologico o sistemico | |
| nl | Zeldzame stoornis met dystonie en andere neurologische of systemische manifestatie | |
| pt | Doença rara com distonia e outras manifestações neurológicas ou sistémicas | |
| pl | Rzadkie zaburzenie z dystonią i innymi objawami neurologicznymi lub układowymi | |
| cs | Vzácná onemocnění s dystonií a jinými neurologickými nebo systémovými projevy | |
| uk | Рідкісний розлад з дистонією та іншими неврологічними або системними проявами | |
| zh | 伴有肌张力障碍和其他神经或系统表现的罕见疾病 | |
| tr | Distoni ve diğer nörolojik veya sistemik belirtiler ile seyreden nadir bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18265 | E | validated | |
| UMLS | C5680969 | 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 (2):
- ORPHA:68363Rare dystonia
rare neurological diseases - ORPHA:391799Rare genetic dystonia
rare genetic diseases
Children (8):
- ORPHA:459033Ataxia-oculomotor apraxia type 4
- ORPHA:497906Childhood-onset basal ganglia degeneration syndrome
- ORPHA:660017Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
- ORPHA:79107Developmental malformations-deafness-dystonia syndrome
- ORPHA:597623IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
- ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- ORPHA:905Wilson disease
- ORPHA:3464Woodhouse-Sakati 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370106
- This record as JSON: /data/d/370106.json