ORPHA:498451
Dysostosis with brachydactyly without extraskeletal manifestations
- 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 | Dysostosis with brachydactyly without extraskeletal manifestations | |
| fr | Dysostose avec brachydactylie sans manifestations extrasquelettiques | |
| de | Dysostose mit Brachydaktylie ohne extraskelettale Manifestationen | |
| es | Disostosis con braquidactilia sin manifestaciones extraesqueléticas | |
| it | Disostosi con brachidattilia senza segni clinici extrascheletrici | |
| nl | Dysostose met brachydactylie zonder extraskeletale manifestaties | |
| pt | Disostose com braquidactilia sem manifestações extraesqueléticas | |
| pl | Dyzostoza z brachydaktylią bez objawów pozaszkieletowych | |
| cs | Dysostóza a brachydaktylie bez mimokostních manifestací | |
| uk | Дизостоз з брахідактилією без екстраскелетних проявів | |
| zh | 骨发育不全-短指畸形不伴有骨骼外表现 | |
| tr | Ekstraskeletal belirtiler ile seyretmeyen brakidaktili disostoz |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681233 | 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:69028Dysostosis with brachydactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (16):
- ORPHA:93388Brachydactyly type A1
- ORPHA:93396Brachydactyly type A2
- ORPHA:93394Brachydactyly type A4
- ORPHA:93382Brachydactyly type A6
- ORPHA:93397Brachydactyly type A7
- ORPHA:93383Brachydactyly type B
- ORPHA:93384Brachydactyly type C
- ORPHA:93387Brachydactyly type E
- ORPHA:1275Brachydactyly-elbow wrist dysplasia syndrome
- ORPHA:1319Camptobrachydactyly
- ORPHA:1487Cooks syndrome
- ORPHA:85169Familial digital arthropathy-brachydactyly
- ORPHA:2565Mononen-Karnes-Senac syndrome
- ORPHA:633211Preaxial digit brachydactyly-webbed fingers
- ORPHA:498602Sugarman brachydactyly
- ORPHA:1570Symbrachydactyly of hands and feet
Codes that Orphanet moved or referred to this one:
- ORPHA:294937OBSOLETE: Brachydactyly referred to · inactive
- ORPHA:294996OBSOLETE: Brachydactyly of fingers referred to · inactive
- ORPHA:294998OBSOLETE: Brachydactyly of toes referred to · inactive
- ORPHA:295128OBSOLETE: Brachydactyly of fingers, unilateral referred to · inactive
- ORPHA:295130OBSOLETE: Brachydactyly of fingers, bilateral referred to · inactive
- ORPHA:295132OBSOLETE: Brachydactyly of toes, unilateral referred to · inactive
- ORPHA:295134OBSOLETE: Brachydactyly of toes, bilateral referred to · inactive
- ORPHA:295136OBSOLETE: Symbrachydactyly of hand and foot, unilateral referred to · inactive
- ORPHA:295138OBSOLETE: Symbrachydactyly of hand and foot, bilateral referred to · inactive
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498451
- This record as JSON: /data/d/498451.json