ORPHA:183557
Genetic developmental defect of the eye
- 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 | Genetic developmental defect of the eye | |
| fr | Anomalie du développement de l'oeil d'origine génétique | Anomalie du développement des yeux d'origine génétique |
| de | Entwicklungsstörung der Augen, genetisch bedingte | |
| es | Trastorno de origen genético en el desarrollo de los ojos | |
| it | Difetto dello sviluppo genetico dell'occhio | |
| nl | Genetisch ontwikkelingsdefect van oog | |
| pt | Anomalia do desenvolvimento ocular, genética | |
| pl | Wada rozwojowa oka uwarunkowana genetycznie | |
| cs | Geneticky podmíněné poruchy vývoje oka | |
| uk | Генетично обумовлена вада розвитку ока | |
| zh | 遗传性眼发育缺陷 | |
| tr | Gözün genetik gelişimsel defekti |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680550 | 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:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases
Children (25):
- ORPHA:88632Anterior segment developmental anomaly
- ORPHA:522540Anterior segment developmental anomaly of genetic origin
- ORPHA:98942Coloboma of choroid and retina
- ORPHA:98943Coloboma of eye lens
- ORPHA:98945Coloboma of macula
- ORPHA:53691Congenital cornea plana
- ORPHA:522514Congenital optic disc excavation of genetic origin
- ORPHA:83461Congenital primary aphakia
- ORPHA:98635Corneodysgenesis
- ORPHA:91492Early onset non-syndromic cataract
- ORPHA:525677Genetic congenital malformation of the eye with glaucoma as a major feature
- ORPHA:637064Isolated optic nerve aplasia
- ORPHA:637061Isolated optic nerve hypoplasia
- ORPHA:522534Lacrimal drainage system anomaly of genetic origin
- ORPHA:522552Lens position anomaly of genetic origin
- ORPHA:98655Lens shape anomaly
- ORPHA:522550Lens size anomaly of genetic origin
- ORPHA:91494Macular coloboma-cleft palate-hallux valgus syndrome
- ORPHA:156005Primary early-onset glaucoma
- ORPHA:519345Rare disorder with optic disc malformation
- ORPHA:98594Rare eyebrow/eyelash disorder
- ORPHA:522526Rare genetic palpebral disorder
- ORPHA:1471Sorsby syndrome
- ORPHA:522536Structural developmental eye defect of genetic origin
- ORPHA:137905Syndromic optic nerve hypoplasia
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/183557
- This record as JSON: /data/d/183557.json