ORPHA:88632
Anterior segment developmental anomaly
Synonyms: Anterior segment dysgenesis
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- 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 | Anterior segment developmental anomaly | Anterior segment dysgenesis |
| fr | Anomalie du développement du segment antérieur de l'oeil | Dysgénésie du segment antérieur de l'oeil |
| de | Dysgenesie des vorderen Augensegmentes | |
| es | Anomalía del desarrollo del segmento anterior | Disgenesia del segmento anterior |
| it | Disgenesia mesenchimale familiare del segmento anteriore dell'occhio | |
| nl | Ontwikkelingsanomalie van voorste oogsegment | Dysgenesie van voorste oogsegment |
| pt | Disgenesia mesenquimatosa do segmento anterior do olho, familiar | |
| pl | Dysgenezja przedniego odcinka gałki ocznej | = en |
| cs | Familiární mezenchymální dysgeneze předního očního segmentu | = en |
| uk | Аномалія розвитку переднього сегмента | Дисгенезія переднього сегмента |
| zh | 眼前节发育异常 | 眼前节发育不良 |
| tr | Anterior segment gelişimsel anomalisi | Anterior segment disgenezi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107250 | E | validated | |
| OMIM | 617315 | BTNT | validated | |
| OMIM | 617319 | BTNT | validated | |
| ICD-11 | LA11 | E | specific | validated |
| MONDO | 0019503 | E | validated | |
| MeSH | C537775 | E | validated | |
| UMLS | C1862839 | E | validated | |
| GARD | 10025 | 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 (4):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:519284Rare disorder of the anterior segment of the eye
rare ophthalmic disorders - ORPHA:522538Rare genetic disorder of the anterior segment of the eye
rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:77OBSOLETE: Aniridia referred to · inactive
- ORPHA:98633OBSOLETE: Goniodysgenesis referred to · inactive
- ORPHA:98636OBSOLETE: Corneoiridogoniodysgenesis 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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88632
- This record as JSON: /data/d/88632.json