ORPHA:404571
Dysostosis of genetic origin with limb anomaly as a major feature
- 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 of genetic origin with limb anomaly as a major feature | |
| fr | Dysostose d'origine génétique avec anomalie des membres comme manifestation majeure | |
| de | Genetisch bedingte Dysostose mit Extremitätenanomlie als Hauptmerkmal | |
| es | Disostosis de origen genético con anomalías de las extremidades como característica principal | |
| it | Disostosi di origine genetica con anomalia degli arti come segno cardinale | |
| nl | Dysostose van genetische oorsprong met ledemaatanomalie als hoofdkenmerk | |
| pt | Disostose de origem genética com anomalia nos membros como característica principal | |
| pl | Dyzostoza pochodzenia genetycznego z anomaliami kończyn jako głównym objawem | |
| cs | Dysostózy genetického původu s anomáliemi končetin jako hlavním příznakem | |
| uk | Генетично обумовлений дизостоз з аномалією кінцівок як основною ознакою | |
| zh | 以肢体异常为主要特征的遗传性骨发育不全 | |
| tr | Esas klinik özelliği ekstremite anomalisi olan genetik kökenli disostoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18455 | E | validated | |
| UMLS | C5681143 | 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:404568Dysostosis of genetic origin
rare genetic diseases
Children (17):
- ORPHA:364198Bipartite talus
- ORPHA:488434Camptodactyly syndrome, Guadalajara type 3
- ORPHA:69028Dysostosis with brachydactyly
- ORPHA:294957Dysostosis with combined reduction defects of upper and lower limbs
- ORPHA:364571Dysostosis with limb and face anomalies as a major feature
- ORPHA:498477Ectrodactyly with and without other manifestations
- ORPHA:3023External auditory canal atresia-vertical talus-hypertelorism syndrome
- ORPHA:199315Familial clubfoot with or without associated lower limb anomalies
- ORPHA:404574Genetic syndrome with limb reduction defects
- ORPHA:228184Heart-hand syndrome
- ORPHA:157808Isolated pseudoarthrosis of the limbs
- ORPHA:294949Non-syndromic joint formation defects
- ORPHA:93457Non-syndromic limb reduction defect
- ORPHA:93458Non-syndromic polydactyly, syndactyly and/or hyperphalangy
- ORPHA:2793Otoonychoperoneal syndrome
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
- ORPHA:93459Syndrome with synostosis or other joint formation defect
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/404571
- This record as JSON: /data/d/404571.json