ORPHA:3212
Autosomal dominant optic atrophy and congenital deafness
inactive · moved to ORPHA:1215Autosomal dominant optic atrophy plus syndrome
Synonyms: Autosomal dominant optic atrophy and congenital hearing loss · Konigsmark-Knox-Hussels 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 Autosomal dominant optic atrophy plus syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant optic atrophy and congenital deafness | Autosomal dominant optic atrophy and congenital hearing loss · Konigsmark-Knox-Hussels syndrome |
| fr | Atrophie optique autosomique dominante et surdité congénitale | Syndrome de Konisgsmark-Knox-Hussels |
| de | Taubheit-Optikusatrophie-Syndrom | Konisgsmark-Knox-Hussels-Syndrom |
| es | Atrofia óptica autosómica dominante y sordera congénita | Atrofia óptica autosómica dominante e hipoacusia congénita · Síndrome de Konigsmark-Knox-Hussels |
| it | Atrofia ottica autosomica dominante - sordità congenita | Sindrome di Konisgsmark-Knox-Hussels |
| nl | Autosomaal dominante opticusatrofie en congenitale doofheid | Autosomaal dominante optische atrofie en congenitale doofheid · Syndroom van Konigsmark-Knox-Hussels |
| pt | Atrofia óptica autossómica dominante e surdez congénita | Atrofia óptica autossómica dominante e perda auditiva congénita · Síndrome Konigsmark-Knox-Hussels |
| pl | Autosomalna dominująca atrofia nerwu wzrokowego i głuchota wrodzona | Zespół Konigsmarka, Knoxa i Husselsa |
| cs | Autozomálně dominantní atrofie optického nervu a vrozená hluchota | Konigsmarkův-Knoxův-Husselsové syndrom · Konigsmark-Knox-Husselsové syndrom |
| uk | Аутосомно-домінантна атрофія зорового нерва та вроджена глухота | Аутосомно-домінантна атрофія зорового нерва та вроджена втрата слуху · Синдром Кенігсмарка - Нокса - Брюсселя |
| zh | 常染色体显性遗传视神经萎缩伴先天性耳聋 | 常染色体显性遗传性视神经萎缩与先天性听力丧失 |
| tr | Otozomal dominant optik atrofi ve doğumsal sağırlık | Konigsmark-Knox-Hussels sendromu · Otozomal dominant optik atrofi ve doğumsal işitme kaybı |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125250 | E | validated | |
| UMLS | C2931440 | 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/3212
- This record as JSON: /data/d/3212.json