ORPHA:1240
Metaphyseal acroscyphodysplasia
inactive · moved to ORPHA:950Acrodysostosis
Synonyms: Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees 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 Acrodysostosis
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal acroscyphodysplasia | Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome |
| fr | Acroscyphodysplasie métaphysaire | Syndrome de Bellini |
| de | Akroscyphodysplasie, metaphysäre | Bellini-Syndrom · Syndromale Intelligenzminderung mit Kleinwuchs und keilförmigen Epiphysen der Knie |
| es | Acroesquifodisplasia metafisaria | Síndrome de Bellini · Síndrome de discapacidad intelectual-talla baja-epífisis de las rodillas en forma de cuña |
| it | Acroscifodisplasia metafisaria | Sindrome di Bellini |
| nl | Metafysaire acroscyfodysplasie | Intellectuele achterstand - kleine gestalte - wigvormige epifysen van knieën-syndroom · Syndroom van Bellini |
| pt | Acrosquifodisplasia metafisária | Síndrome Bellini · Síndrome de perturbação do desenvolvimento intelectual-baixa estatura-epífises dos joelhos em cunha |
| pl | Przynasadowa dysplazja kubkowa kończyn | Niepełnosprawność intelektualna - niski wzrost - klinowate nasady kości kolan · Zespół Belliniego |
| cs | Metafyzární akroskyfodysplázie | Belliniho syndrom · Syndrom zahrnující mentální retardaci, malý vzrůst a klínovité epifýzy kolen |
| uk | Метафізарна акроскіфодисплазія | Синдром Белліні · Синдром інтелектуальної недостатності - низького зросту-клиноподібних епіфізів колінних суглобів |
| zh | 干骺端肢端发育异常 | 智能障碍-身材矮小-膝关节楔形骨骺综合征 |
| tr | Metafiz akrosifodisplazi | Bellini sendromu · Zihinsel yetersizlik-kısa boy-kama şeklindeki diz sendromu epifizleri |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250215 | E | validated | |
| MONDO | 0009592 | E | validated | |
| MeSH | C537350 | E | validated | |
| UMLS | C1855243 | E | validated | |
| GARD | 3519 | 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/1240
- This record as JSON: /data/d/1240.json