ORPHA:522508
Rare genetic ophthalmic disorder with cortical involvement
- 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 genetic ophthalmic disorder with cortical involvement | |
| fr | Maladie ophtalmique génétique rare avec atteinte corticale | |
| de | Seltene genetische Augenkrankheit mit kortikaler Beteiligung | |
| es | Trastorno genético oftalmológico raro con afectación cortical | |
| it | Malattia oftalmica genetica rara con coinvolgimento corticale | |
| nl | Zeldzame genetische oftalmische aandoening met betrokkenheid van hersenschors | |
| pt | Doença oftalmológica genética rara com envolvimento cortical | |
| pl | Rzadka choroba oka uwarunkowana genetycznie obejmująca korę mózgową | |
| cs | Vzácná genetická oční porucha s kortikálním postižením | |
| uk | Рідкісне генетично обумовлене офтальмологічне захворювання з ураженням кори головного мозку | |
| zh | 罕见遗传性眼病伴皮质受累 | |
| tr | Kortikal tutulumu ile seyreden nadir genetik oftalmik bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681437 | 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:183616Genetic neuro-ophthalmological disease
rare genetic diseases
Children (11):
- ORPHA:363722Alexander disease type II
- ORPHA:2512Autosomal recessive primary microcephaly
- ORPHA:1389Cortical blindness-intellectual disability-polydactyly syndrome
- ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- ORPHA:550MELAS
- ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:98688Oculomotor apraxia
- ORPHA:477814Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder
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/522508
- This record as JSON: /data/d/522508.json