ORPHA:98495
Genetic neuromuscular junction disease
- 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 | Genetic neuromuscular junction disease | |
| fr | Maladie génétique de la jonction neuromusculaire | |
| de | Neuromuskuläre Übertragungsstörung, genetisch bedingte | |
| es | Enfermedad genética de la unión neuromuscular | |
| it | Malattia genetica delle giunzioni neuromuscolari | |
| nl | Genetische neuromusculaire junctiestoornis | Genetische neuromusculaire transmissiestoornis · Genetische stoornis van de motorische eindplaat |
| pt | Doença da junção neuromuscular genética | |
| pl | Genetyczna choroba połączeń nerwowo-mięśniowych | |
| cs | Geneticky podmíněné choroby nervosvalové ploténky | |
| uk | Генетично обумовлене захворювання нервово-мязового зєднання | |
| zh | 遗传性神经肌肉接头疾病 | |
| tr | Genetik kas sinir kavşağı hastalığı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681843 | 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:183497Genetic neuromuscular disease
rare genetic diseases - ORPHA:98491Neuromuscular junction disease
rare neurological diseases
Children (1):
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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/98495
- This record as JSON: /data/d/98495.json