ORPHA:519296
Rare disorder with pigmented sclera
- 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 disorder with pigmented sclera | |
| fr | Maladie rare avec sclérotique bleue | |
| de | Seltene Krankheit mit pigmentierter Sklera | |
| es | Trastorno raro con esclerótica pigmentada | |
| it | Malattia rara con sclera pigmentata | |
| nl | Zeldzame stoornis met gepigmenteerde sclera | |
| pt | Doença rara com pigmentação da esclera | |
| pl | Rzadka choroba z pigmentacją twardówki | |
| cs | Vzácná porucha s pigmentovanou sklérou | |
| uk | Рідкісне захворювання з пігментованою склерою | |
| zh | 罕见巩膜色素沉着症 | |
| tr | Pigmentli sklera ile seyreden nadir bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681370 | 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 (2):
- ORPHA:522504Rare genetic disorder of the visual organs
rare genetic diseases - ORPHA:519298Rare scleral disorder
rare ophthalmic disorders
Children (18):
- ORPHA:56Alkaptonuria
- ORPHA:52047Braddock syndrome
- ORPHA:175Cartilage-hair hypoplasia
- ORPHA:2050Cole-Carpenter syndrome
- ORPHA:2772Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:2097Grant syndrome
- ORPHA:2186Hydrocephalus-blue sclerae-nephropathy syndrome
- ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- ORPHA:2484Melnick-Needles syndrome
- ORPHA:216796Osteogenesis imperfecta type 1
- ORPHA:216804Osteogenesis imperfecta type 2
- ORPHA:216812Osteogenesis imperfecta type 3
- ORPHA:216820Osteogenesis imperfecta type 4
- ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:66633Sensorineural hearing loss-early graying-essential tremor syndrome
- ORPHA:813Silver-Russell syndrome
- ORPHA:2475White forelock with malformations
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/519296
- This record as JSON: /data/d/519296.json