ORPHA:98638
Rare disease with glaucoma as a major feature
- 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 disease with glaucoma as a major feature | |
| fr | Maladie rare avec un glaucome comme manifestation majeure | |
| de | Glaukom, syndromales | |
| es | Enfermedad rara con glaucoma como característica principal | |
| it | Malattia rara con glaucoma come segno cardinale | |
| nl | Zeldzame ziekte met glaucoom als hoofdkenmerk | |
| pt | Doença rara com glaucoma como característica principal | |
| pl | Rzadka choroba z jaskrą jako objawem głównym | |
| cs | Vzácná onemocnění s glaukomem jako hlavním příznakem | |
| uk | Рідкісне захворювання, основною ознакою якого є глаукома | |
| zh | 青光眼为特征型罕见疾病 | |
| tr | Esas klinik özelliği glokom olan nadir hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681670 | 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:519331Secondary early-onset glaucoma
rare ophthalmic disorders - ORPHA:522580Secondary early-onset glaucoma of genetic origin
rare genetic diseases
Children (30):
- ORPHA:1069Aniridia-absent patella syndrome
- ORPHA:1064Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:782Axenfeld-Rieger syndrome
- ORPHA:1259Blepharoptosis-myopia-ectopia lentis syndrome
- ORPHA:272Congenital muscular dystrophy, Fukuyama type
- ORPHA:1425Desbuquois syndrome
- ORPHA:96125Distal deletion 6p syndrome
- ORPHA:2085Glaucoma-sleep apnea syndrome
- ORPHA:394Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:2409Lowry-MacLean syndrome
- ORPHA:560Marshall syndrome
- ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III
- ORPHA:2536Microcornea-glaucoma-absent frontal sinuses syndrome
- ORPHA:2556Microphthalmia with linear skin defects syndrome
- ORPHA:1052Mosaic variegated aneuploidy syndrome
- ORPHA:79213Mucopolysaccharidosis
- ORPHA:588Muscle-eye-brain disease
- ORPHA:2614Nail-patella syndrome
- ORPHA:534Oculocerebrorenal syndrome of Lowe
- ORPHA:2712Oculofaciocardiodental syndrome
- ORPHA:709Peters plus syndrome
- ORPHA:2875Phakomatosis pigmentovascularis
- ORPHA:783Rubinstein-Taybi syndrome
- ORPHA:3163SHORT syndrome
- ORPHA:2818Spastic paraplegia-glaucoma-intellectual disability syndrome
- ORPHA:828Stickler syndrome
- ORPHA:3205Sturge-Weber syndrome
- ORPHA:892Von Hippel-Lindau disease
- ORPHA:893WAGR 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/98638
- This record as JSON: /data/d/98638.json