ORPHA:498454
Dysostosis with brachydactyly with 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysostosis with brachydactyly with extraskeletal manifestations | |
| fr | Dysostose avec brachydactylie avec manifestations extrasquelettiques | |
| de | Dysostose mit Brachydaktylie mit extraskelettalen Manifestationen | |
| es | Disostosis con braquidactilia con manifestaciones extraesqueléticas | |
| it | Disostosi con brachidattilia con segni clinici extrascheletrici | |
| nl | Dysostose met brachydactylie met extraskeletale manifestaties | |
| pt | Disostose com braquidactilia com manifestações extraesqueléticas | |
| pl | Dyzostoza z brachydaktylią z objawami pozaszkieletowymi | |
| cs | Dysostóza a brachydaktylie s mimokostními manifestacemi | |
| uk | Дизостоз з брахідактилією з екстраскелетними проявами | |
| zh | 骨发育不全-短指畸形合并骨骼外表现 | |
| tr | Ekstraskeletal belirtilerle seyreden brakidaktili disostoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681833 | 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 (1):
- ORPHA:69028Dysostosis with brachydactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (21):
- ORPHA:10012q37 microdeletion syndrome
- ORPHA:2956Acrodysplasia scoliosis
- ORPHA:974Adams-Oliver syndrome
- ORPHA:1276Brachydactyly-arterial hypertension syndrome
- ORPHA:2946Brachydactyly-long thumb syndrome
- ORPHA:1278Brachydactyly-preaxial hallux varus syndrome
- ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome
- ORPHA:1292Brachymorphism-onychodysplasia-dysphalangism syndrome
- ORPHA:1295Brachytelephalangy-dysmorphism-Kallmann syndrome
- ORPHA:1305Feingold syndrome
- ORPHA:2438Hand-foot-genital syndrome
- ORPHA:247262Hyperphosphatasia-intellectual disability syndrome
- ORPHA:589608Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
- ORPHA:238744Mammary-digital-nail syndrome
- ORPHA:3433Microcephaly-brachydactyly-kyphoscoliosis syndrome
- ORPHA:2911Poland syndrome
- ORPHA:783Rubinstein-Taybi syndrome
- ORPHA:1858Skeletal dysplasia-epilepsy-short stature syndrome
- ORPHA:363417Temtamy preaxial brachydactyly syndrome
- ORPHA:1078Thumb stiffness-brachydactyly-intellectual disability syndrome
- ORPHA:52056Ulnar/fibula ray defect-brachydactyly 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498454
- This record as JSON: /data/d/498454.json