ORPHA:716427
Rare disorder with progressive predominantly macular disorder as a major feature
Synonyms: Rare syndromic progressive predominantly macular disorder
- 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
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disorder with progressive predominantly macular disorder as a major feature | Rare syndromic progressive predominantly macular disorder |
| fr | Maladie rare avec atteinte progressive prédominante de la macula comme manifestation majeure | Maladie rare syndromique avec atteinte progressive prédominante de la macula |
| de | Seltene Störung mit progredienter Makulopathie als Hauptmerkmal | |
| es | Trastorno raro con afectación predominantemente macular progresiva como característica principal | Trastorno raro predominantemente macular progresivo sindrómico |
| it | Malattia rara con predominate maculopatia progressiva come caratteristica principale | Malattia rara sindromica progressiva a predominanza maculare |
| nl | Zeldzame aandoening met progressieve overwegend maculaire aandoening als een hoofdkenmerk | Zeldzame syndromale progressieve overwegend maculaire aandoening · Zeldzame syndromale progressieve aandoening van voornamelijk macula · Zeldzame syndromale progressieve aandoening van voornamelijk gele vlek |
| pt | Rare disorder with progressive predominantly macular disorder as a major feature | |
| pl | Rare disorder with progressive predominantly macular disorder as a major feature | = en |
| cs | Rare disorder with progressive predominantly macular disorder as a major feature | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:717333Rare genetic progressive predominantly macular disorder
rare genetic diseases - ORPHA:716416Rare progressive predominantly macular disorder
rare ophthalmic disorders
Children (10):
- ORPHA:63Alport syndrome
- ORPHA:1897EEM syndrome
- ORPHA:351Galactosialidosis
- ORPHA:1573Hypotrichosis with juvenile macular degeneration
- ORPHA:77292Infantile neurovisceral acid sphingomyelinase deficiency
- ORPHA:100996Kjellin syndrome
- ORPHA:1571Knobloch syndrome
- ORPHA:91494Macular coloboma-cleft palate-hallux valgus syndrome
- ORPHA:758Pseudoxanthoma elasticum
- ORPHA:816Sjögren-Larsson syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/716427
- This record as JSON: /data/d/716427.json