ORPHA:1293
Brachyolmia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachyolmia | |
| fr | Brachyolmie | |
| de | Brachyolmie | |
| es | Braquiolmia | |
| it | Brachiolmia | |
| nl | Brachyolmie | |
| pt | Braquiolmia | |
| pl | Brachyolmia | |
| cs | Brachyolmie | |
| uk | Брахіолмія | |
| zh | 短脊柱畸形 | |
| tr | Brakiyolmia |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015262 | E | validated | |
| MONDO | 15262 | E | validated | |
| MeSH | C537098 | E | validated | |
| UMLS | C0432228 | E | validated | |
| GARD | 10903 | E | validated | |
| MedDRA | 10081832 | 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 (1):
- ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/1293
- This record as JSON: /data/d/1293.json