ORPHA:1408
Hair defect-photosensitivity-intellectual disability syndrome
inactive · moved to ORPHA:33364Trichothiodystrophy
Synonyms: Calderón-González-Cantu 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 Trichothiodystrophy
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hair defect-photosensitivity-intellectual disability syndrome | Calderón-González-Cantu syndrome |
| fr | Syndrome d'anomalie des cheveux-photosensibilité-déficience intellectuelle | Syndrome de Calderón-González-Cantu |
| de | Haaranomalien-Photosensibilität-Intelligenzminderung-Syndrom | Calderón-González-Cantu-Syndrom |
| es | Síndrome de anomalías del cabello-fotosensibilidad-discapacidad intelectual | Síndrome de Calderón-González-Cantu |
| it | Sindrome anomalie dei capelli-fotosensibilità-disabilità intellettiva | Sindrome di Calderón-González-Cantu |
| nl | Haardefect - fotosensitiviteit - intellectuele achterstand-syndroom | Syndroom van Calderón-González-Cantu |
| pt | Síndrome de defeitos no cabelo-fotossensibilidade-perturbação do desenvolvimento intelectual | Síndrome Calderón-González-Cantu |
| pl | Anomalia włosów - wrażliwość na światło - niepełnosprawność intelektualna | Zespół Calderona, Gonzaleza i Cantu'a |
| cs | Syndrom zahrnující vlasový defekt, fotosenzitivitu a mentální retardaci | Calderónův-Gonzálezův-Cantuův syndrom · Calderón-González-Cantuův syndrom |
| uk | Синдром дефекту волосся-світлочутливості-інтелектуальної недостатності | Синдром Кальдерона-Гонсалеса-Канту |
| zh | 头发缺损-光敏感-智力障碍综合征 | Calderón-González-Cantu综合征 |
| tr | Saç defekti-fotosensitive-zihinsel yetersizlik sendromu | Calderón-González-Cantu sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234030 | E | validated | |
| UMLS | C1856241 | E | validated | |
| GARD | 2582 | 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/1408
- This record as JSON: /data/d/1408.json