ORPHA:519294
Syndromic microspherophakia
- 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 | Syndromic microspherophakia | |
| fr | Microsphérophakie syndromique | |
| de | Syndromale Mikrosphärophakie | |
| es | Microesferofaquia sindrómica | |
| it | Microsferofachia sindromica | |
| nl | Syndromale microsferofakie | |
| pt | Microesferofaquia sindromática | |
| pl | Zespół soczewki małej i kulistej | |
| cs | Syndromová mikrosférofakie | |
| uk | Синдромна мікросферофакія | |
| zh | 综合征性小球形晶状体 | |
| tr | Sendromik mikrosferofaki |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0850009 | E | validated | |
| UMLS | C5681371 | 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:98652Lens size anomaly
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522550Lens size anomaly of genetic origin
rare genetic diseases
Children (6):
- ORPHA:3086Autosomal dominant vitreoretinochoroidopathy
- ORPHA:2084Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
- ORPHA:363992Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
- ORPHA:2551Microspherophakia-metaphyseal dysplasia syndrome
- ORPHA:85194Spondylo-ocular syndrome
- ORPHA:3449Weill-Marchesani syndrome
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/519294
- This record as JSON: /data/d/519294.json