ORPHA:98553
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 | Developmental defect of the eye | |
| fr | Anomalie du développement de l'oeil | |
| de | Entwicklungsdefekt der Augen | |
| es | Defectos del desarrollo ocular | |
| it | Difetto dello sviluppo dell'occhio | |
| nl | Ontwikkelingsdefect van oog | |
| pt | Anomalia do desenvolvimento ocular | |
| pl | Wady rozwojowe oka | |
| cs | Vývojové vady oka | |
| uk | Вада розвитку ока | |
| zh | 眼发育缺陷 | |
| tr | Gözün gelişimsel defekti |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120200 | BTNT | validated | |
| OMIM | 216820 | BTNT | validated | |
| UMLS | C5681657 | 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:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis
Children (25):
- ORPHA:88632Anterior segment developmental anomaly
- ORPHA:98942Coloboma of choroid and retina
- ORPHA:98943Coloboma of eye lens
- ORPHA:98945Coloboma of macula
- ORPHA:53691Congenital cornea plana
- ORPHA:98631Congenital malformation of the eye with glaucoma as a major feature
- ORPHA:519333Congenital optic disc excavation
- ORPHA:83461Congenital primary aphakia
- ORPHA:98635Corneodysgenesis
- ORPHA:91492Early onset non-syndromic cataract
- ORPHA:637064Isolated optic nerve aplasia
- ORPHA:637061Isolated optic nerve hypoplasia
- ORPHA:98605Lacrimal drainage system anomaly
- ORPHA:98653Lens position anomaly
- ORPHA:98655Lens shape anomaly
- ORPHA:98652Lens size anomaly
- 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:716213Rare isolated developmental choroidal disorder
- ORPHA:98560Rare palpebral disorder
- ORPHA:1471Sorsby syndrome
- ORPHA:519272Structural developmental eye defect
- ORPHA:137905Syndromic optic nerve hypoplasia
Codes that Orphanet moved or referred to this one:
- ORPHA:194OBSOLETE: Ocular coloboma referred to · inactive
- ORPHA:98554OBSOLETE: Major induction processes eye anomaly referred to · inactive
- ORPHA:98558OBSOLETE: Rare eye disease due to a differentiation anomaly referred to · inactive
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/98553
- This record as JSON: /data/d/98553.json