ORPHA:519276
Anterior segment developmental anomaly with extraocular manifestations
- 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 | Anterior segment developmental anomaly with extraocular manifestations | |
| fr | Anomalie du développement du segment antérieur de l'oeil avec manifestations extra-oculaires | |
| de | Entwicklungsanomalie des vorderen Augensegmentes mit extraokulären Manifestationen | |
| es | Anomalía del desarrollo del segmento anterior con manifestaciones extraoculares | |
| it | Anomalie dello sviluppo del segmento anteriore dell'occhio con manifestazioni extraoculari | |
| nl | Ontwikkelingsanomalie van voorste oogsegment met extraoculaire manifestaties | |
| pt | Anomalia do desenvolvimento do segmento anterior com manifestações extra-oculares | |
| pl | Wada rozwojowa przedniego odcinka oka z objawami zewnątrzgałkowymi | |
| cs | Vývojová abnormalita předního segmentu s extraokulárními projevy | |
| uk | Аномалія розвитку переднього сегмента з екстраочними проявами | |
| zh | 眼前节发育异常伴眼外症状 | |
| tr | Göz dışı belirtilerle seyreden anterior gelişim anormalliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0850008 | E | validated | |
| UMLS | C5681394 | 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 (2):
- ORPHA:88632Anterior segment developmental anomaly
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522540Anterior segment developmental anomaly of genetic origin
rare genetic diseases
Children (14):
- ORPHA:52Alagille syndrome
- ORPHA:782Axenfeld-Rieger syndrome
- ORPHA:195Cat-eye syndrome
- ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- ORPHA:96125Distal deletion 6p syndrome
- ORPHA:2090GMS syndrome
- ORPHA:2321Jung syndrome
- ORPHA:139450Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- ORPHA:709Peters plus syndrome
- ORPHA:2670Pierson syndrome
- ORPHA:3163SHORT syndrome
- ORPHA:506307Stromme syndrome
- ORPHA:98557Syndromic aniridia
- ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability
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/519276
- This record as JSON: /data/d/519276.json