ORPHA:522568
Rare genetic 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare genetic disorder of the pupil | |
| fr | Maladie génétique rare de la pupille | |
| de | Seltene genetische Krankheit der Pupille | |
| es | Trastorno genético raro de la pupila | |
| it | Malattia genetica rara della pupilla | |
| nl | Zeldzame genetische aandoening van pupil | |
| pt | Doença genética rara da pupila | |
| pl | Rzadka choroba źrenicy uwarunkowna genetycznie | |
| cs | Vzácná genetická porucha zornice | |
| uk | Рідкісне генетично обумовлене захворювання зіниці | |
| zh | 罕见瞳孔遗传性疾病 | |
| tr | Göz bebeğinde görülen nadir genetik bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681405 | 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:522538Rare genetic disorder of the anterior segment of the eye
rare genetic diseases
Children (18):
- ORPHA:773Adult Refsum disease
- ORPHA:1067Aniridia-ptosis-intellectual disability-familial obesity syndrome
- 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: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
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/522568
- This record as JSON: /data/d/522568.json