ORPHA:519286
Rare disorder of the pupil
- 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 | Rare disorder of the pupil | |
| fr | Maladie rare de la pupille | |
| de | Seltene Krankheit der Pupille | |
| es | Trastorno raro de la pupila | |
| it | Patologia rara della pupilla | |
| nl | Zeldzame aandoening van pupil | |
| pt | Doença rara da pupila | |
| pl | Rzadka choroba źrenicy | |
| cs | Vzácná pupilární porucha | |
| uk | Рідкісний розлад зіниці | |
| zh | 罕见的瞳孔病变 | |
| tr | Nadir görülen pupil bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681391 | 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 (1):
- ORPHA:519284Rare disorder of the anterior segment of the eye
rare ophthalmic disorders
Children (20):
- ORPHA:773Adult Refsum disease
- ORPHA:1067Aniridia-ptosis-intellectual disability-familial obesity syndrome
- ORPHA:1267Botulism
- ORPHA:1422Chondrodysplasia-difference of sex development syndrome
- ORPHA:91413Congenital Horner syndrome
- ORPHA:1884Ectopia lentis-chorioretinal dystrophy-myopia syndrome
- ORPHA:1764Familial dysautonomia
- ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome
- ORPHA:454718Holmes-Adie syndrome
- ORPHA:404463Multisystemic smooth muscle dysfunction syndrome
- ORPHA:534Oculocerebrorenal syndrome of Lowe
- ORPHA:2788Osteoporosis-pseudoglioma syndrome
- ORPHA:2969Proteus-like syndrome
- ORPHA:2999Ptosis-strabismus-ectopic pupils syndrome
- ORPHA:3163SHORT syndrome
- ORPHA:1182Spastic ataxia with congenital miosis
- ORPHA:3204Stormorken-Sjaastad-Langslet syndrome
- ORPHA:236Trisomy 9p syndrome
- ORPHA:3374Unilateral ocular duplication
- ORPHA:1661X-linked corneal dermoid
Codes that Orphanet moved or referred to this one:
- ORPHA:2535OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome 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/519286
- This record as JSON: /data/d/519286.json