ORPHA:168972
Kahrizi syndrome
inactive · moved to ORPHA:324737SRD5A3-CDG
Synonyms: Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis 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 SRD5A3-CDG
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kahrizi syndrome | Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome |
| fr | Syndrome de Kahrizi | Déficience intellectuelle type Kahrizi · Syndrome de déficience intellectuelle-cataracte-colobome -cyphose |
| de | Kahrizi-Syndrom | Intelligenzminderung Typ Kahrizi · Intelligenzminderung-Katarakt-Kolobom-Kyphose-Syndrom |
| es | Síndrome de Kahrizi | Discapacidad intelectual tipo Kahrizi · Síndrome de discapacidad intelectual-catarata-coloboma-cifosis |
| it | Sindrome di Kahrizi | Deficit cognitivo, tipo Kahrizi |
| nl | Syndroom van Kahrizi | Intellectuele achterstand - cataract - coloboom - kyfose-syndroom · Intellectuele achterstand, Kahrizi-type |
| pt | Síndrome Kahrizi | Perturbação do desenvolvimento intelectual, tipo Kahrizi · Síndrome de perturbação do desenvolvimento intelectual-catarata-coloboma-cifose |
| pl | Zespół Kahrizi | Niepełnosprawność intelektualna - zaćma - szczelina oka- kifoza · Niepełnosprawność intelektualna, typ Kahrizi |
| cs | Kahriziové syndrom | Mentální retardace, Kahriziové typ · Syndrom zahrnující mentální retardaci, kataraktu, kolobom a kyfózu |
| uk | Синдром Кахрізі | Інтелектуальна недостатність, тип Кахрізі · Синдром інтелектуальної недостатності - катаракти-колобоми-кіфозу |
| zh | Kahrizi 综合征 | 智力障碍-白内障-眼缺损-脊柱后凸综合征 |
| tr | Kahrizi sendromu | Zihinsel yetersizlik, Kahrizi tipi · Zihinsel yetersizlik-katarakt-kolobom-kifoz sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612713 | E | validated | |
| UMLS | C2675185 | 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/168972
- This record as JSON: /data/d/168972.json