ORPHA:522522
Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
- 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 genetic neuromuscular disorder with ocular motility/alignment anomaly | |
| fr | Maladie génétique rare neuromusculaire avec anomalie de motilité ou d'alignement oculaire | |
| de | Seltene genetische neuromuskuläre Störung der okulären Ausrichtung und Beweglichkeit | |
| es | Trastorno genético neuromuscular raro con anomalía de la movilidad/alineamiento ocular | |
| it | Patologia neuromuscolare genetica rara con anomalie della motilità/allineamento oculare | |
| nl | Zeldzame genetische neuromusculaire aandoening met anomalie van beweging/stand van oog | |
| pt | Doença neuromuscular genética rara com anomalia do alinhamento/mobilidade ocular | |
| pl | Rzadka choroba nerwowo-mięśniowa uwarunkowana genetycznie z zaburzeniami ruchomości gałki ocznej/nieprawidłowym ustawieniem gałek ocznych | |
| cs | Vzácná genetická neuromuskulární porucha s anomálií oční motility/postavení očí | |
| uk | Рідкісне генетично обумовлене нервово-мязове захворювання з аномалією руху/вирівнювання очей | |
| zh | 罕见遗传性神经肌肉疾病伴眼球运动/对准异常 | |
| tr | Oküler motilite/hizalanma anomalisi ile seyreden nadir genetik nöromüsküler bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681428 | 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:522516Rare genetic ocular motility/alignment disorder
rare genetic diseases
Children (15):
- ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:363677Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
- ORPHA:590Congenital myasthenic syndrome
- ORPHA:98896Duchenne muscular dystrophy
- ORPHA:399Huntington disease
- ORPHA:248111Juvenile Huntington disease
- ORPHA:480Kearns-Sayre syndrome
- ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:1876Oculogastrointestinal muscular dystrophy
- ORPHA:270Oculopharyngeal muscular dystrophy
- ORPHA:98897Oculopharyngodistal myopathy
- ORPHA:2743Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- ORPHA:520820Progressive external ophthalmoplegia
- ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- ORPHA:273Steinert myotonic dystrophy
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/522522
- This record as JSON: /data/d/522522.json