ORPHA:93426
Ciliopathies with major skeletal involvement
Synonyms: SRP · Short rib dysplasia
- 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
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ciliopathies with major skeletal involvement | SRP · Short rib dysplasia |
| fr | Ciliopathies avec atteinte osseuse majeure | Dysplasie des côtes courtes |
| de | Ziliopathie mit vorwiegend skelettaler Beteiligung | Kurzrippen-Dysplasie · SRP |
| es | Ciliopatías con afectación esquelética extensa | Displasia de costillas cortas · SRP |
| it | Displasia costa-corta con o senza polidattilia | |
| nl | Ciliopathieën met overwegend betrokkenheid van skelet | Korte rib-dysplasie · SRP |
| pt | Ciliopatias com envolvimento esquelético extenso | Displasia de costela curta |
| pl | Dysplazja krótkich żeber | Dysplazja krótkiego żebra (z polidaktylią lub bez polidaktylii) · SRP |
| cs | Dysplázie krátkých žeber | SRP · Dysplázie krátkých žeber (s nebo bez polydaktylie) |
| uk | Циліопатії з великим ураженням скелета | Дисплазія коротких ребер · SRP |
| zh | 主要累及骨骼的纤毛疾病 | 短肋骨发育不良 |
| tr | Büyük iskelet tutulumu ile seyreden siliyopatiler | SRP · Kısa kaburga displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617405 | BTNT | validated | |
| MONDO | 0019691 | E | validated | |
| UMLS | C0432195 | 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 (2):
- ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364803Rare bone disease related to a common gene or pathway defect
rare genetic diseases
Children (7):
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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/93426
- This record as JSON: /data/d/93426.json