ORPHA:918
ABCD syndrome
inactive · moved to ORPHA:897Waardenburg-Shah syndrome
Synonyms: Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Waardenburg-Shah syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ABCD syndrome | Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome |
| fr | Syndrome ABCD | |
| de | ABCD-Syndrom | |
| es | Síndrome ABCD | Síndrome de albinismo-mechón negro-trastorno de migración celular de los neurocitos intestinales-hipoacusia neurosensorial · Síndrome de albinismo-mechón negro-trastorno de migración celular de los neurocitos intestinales-sordera neurosensorial |
| it | Sindrome ABDC | |
| nl | ABCD-syndroom | Albinisme - black lock - celmigratiestoornis van de darmneurocyten - sensorineurale doofheid |
| pt | Síndrome ABCD | |
| pl | Zespół ABCD | Albinizm - czarny lok - zaburzenia migracji neurocytów jelita - głuchota czuciowo-nerwowa |
| cs | ABCD syndrom | Syndrom zahrnující albinismus, černé vlasy, poruchu migrace neuronů střeva a senzorickou hluchotu |
| uk | Синдром ABCD | Синдром альбінізму-чорного замка-порушення міграції нейроцитів кишечника-сенсорної приглухуватості · Синдром альбінізму-чорного замка-порушення міграції нейроцитів кишечника-сенсорної приглухуватості |
| zh | ABCD综合征 | 白化病-黑发-肠神经细胞迁移障碍-感音神经性聋综合征 |
| tr | ABCD sendromu | Bağırsak sensörinöral sağırlık sendromunun nörositlerinin albinizm-siyah kilit hücre göçü bozukluğu · Bağırsak sensörinöral işitme kaybı sendromunun nörositlerinin albinizm-siyah kilit hücre göçü bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600501 | E | validated | |
| MeSH | C535334 | E | validated | |
| UMLS | C1838099 | 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/918
- This record as JSON: /data/d/918.json