ORPHA:166011
Multiple epiphyseal dysplasia, Beighton type
inactive · moved to ORPHA:828Stickler syndrome
Synonyms: Multiple epiphyseal dysplasia-myopia-deafness syndrome · Multiple epiphyseal dysplasia-myopia-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Stickler syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia, Beighton type | Multiple epiphyseal dysplasia-myopia-deafness syndrome · Multiple epiphyseal dysplasia-myopia-hearing loss syndrome |
| fr | Dysplasie épiphysaire multiple type Beighton | Syndrome de dysplasie épiphysaire multiple-myopie-surdité |
| de | Dysplasie, epiphysäre multiple, Typ Beighton | Dysplasie, epiphysäre multiple - Myopie - Schwerhörigkeit |
| es | Displasia epifisaria múltiple tipo Beighton | Síndrome de displasia epifisaria múltiple-miopía-hipoacusia · Síndrome de displasia epifisaria múltiple-miopía-sordera |
| it | Displasia epifisaria multipla, tipo Beighton | Displasia epifisaria multipla - miopia - sordità |
| nl | Multipele epifysaire dysplasie, Beighton-type | Meervoudige epifysaire dysplasie - myopie - doofheid-syndroom · Meervoudige epifysaire dysplasie - myopie - gehoorverlies-syndroom · Meervoudige epifysaire dysplasie, Beighton-type |
| pt | Displasia epifisária múltipla, tipo Beighton | |
| pl | Dysplazja wielonasadowa, typ Beightona | Dysplazja wielonasadowa - miopia - głuchota |
| cs | Mnohočetná epifyzární dysplázie, Beightonův typ | Syndrom zahrnující mnohočetnou epifyzární dysplázii, myopii a hluchotu · Epifyzární dysplázie, Beightonův typ |
| uk | Множинна епіфізарна дисплазія, тип Бейтона | Синдром множинної епіфізарної дисплазії-міопії-глухоти · Синдром множинної епіфізарної дисплазії-міопії-глухоти |
| zh | Beighton 型多发性骨骺发育不良 | 多发性骨骺发育不良-近视-听力损失综合征 |
| tr | Çoklu epifiz displazisi, Beighton tipi | çoklu epifizeal displazi-miyopi-sağırlık sendromu · çoklu epifizeal displazi-miyopi-işitme kaybı sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 132450 | E | validated | |
| MONDO | 0007562 | E | validated | |
| UMLS | C4304499 | 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
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/166011
- This record as JSON: /data/d/166011.json