ORPHA:137905
Syndromic optic nerve hypoplasia
- 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 | Syndromic optic nerve hypoplasia | |
| fr | Hypoplasie syndromique du nerf optique | |
| de | Sehnerv-Hypoplasie, syndromale | |
| es | Hipoplasia sindrómica del nervio óptico | |
| it | Ipoplasia sindromica del nervo ottico | |
| nl | Syndromale hypoplasie van oogzenuw | Syndromale hypoplasie van nervus opticus |
| pt | Hipoplasia do nervo óptico sindromática | |
| pl | Syndromiczna hipoplazja nerwu wzrokowego | |
| cs | Syndromická hypoplázie optického nervu | |
| uk | Синдромальна гіпоплазія зорового нерва | |
| zh | 综合征性视神经发育不全 | |
| tr | Sendromik optik sinir hipoplazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15310 | E | validated | |
| UMLS | C5680629 | E | validated | |
| GARD | 19888 | 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 (4):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:522512Rare genetic optic nerve disorder
rare genetic diseases - ORPHA:519351Rare optic nerve disorder
rare ophthalmic disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/137905
- This record as JSON: /data/d/137905.json