ORPHA:466732
OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome
inactive · referred to ORPHA:79328ALG9-CDG
Synonyms: OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Obsolete entity
This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using ALG9-CDG
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome | OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome |
| fr | OBSOLETE : Syndrome létal de brachymélie-polykystose rénale-malformation cardiaque congénitale | OBSOLETE : Syndrome de Gillessen-Kaesbach-Nishimura |
| de | OBSOLET: Letale Brachymelie-polyzystische Nierenkrankheit-kongenitaler Herzfehler-Syndrom | OBSOLET: Gillessen-Kaesbach-Nishimura-Syndrom |
| es | OBSOLETO: Síndrome letal de braquimelia-enfermedad del riñón poliquístico-defecto congénito del corazón | OBSOLETO: Síndrome de Gillessen-Kaesbach-Nishimura |
| it | OBSOLETO: Sindrome brachimelia letale-malattia del rene policistico-cardiopatia congenita | |
| nl | OBSOLEET: Letale brachymelie - polycystische nierziekte - congenitaal hartdefect-syndroom | OBSOLEET: Syndroom van Gillessen-Kaesbach-Nishimura |
| pt | OBSOLETO: Doença renal braquimelia-policística letal - síndrome de cardiopatia congénita | |
| pl | NIEAKTUALNE: Smiertelny zespól brachymelii, wielotorbielowatej choroby nerek oraz wrodzonej wady serca | NIEAKTUALNE: Zespół Gillessena, Kaesbacha i Nishimura |
| cs | NEAKTUÁLNÍ: Syndrom zahrnující smrtelnou brachymelii, polycystickou chorobu ledvin a vrozenou srdeční vadu | = en |
| uk | ЗАСТАРІЛО: Синдром летальної брахімелії-полікістозу нирок-вродженої вади серця | ЗАСТАРІЛО: Синдром Гіллессена-Кесбаха-Нішимури |
| zh | 已废除：致死性短颈肌多囊肾疾病先天性心脏缺陷综合征 | 吉列森-凯斯巴赫-西村综合征 |
| tr | Eski adı: Letal brachymelia-polikistik böbrek hastalığı-doğumsal kalp defekti sendromu | Gillessen-Kaesbach-Nishimura sendromu |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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/466732
- This record as JSON: /data/d/466732.json