ORPHA:269546
Syndrome with a Dandy-Walker malformation as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome with a Dandy-Walker malformation as a major feature | |
| fr | Syndrome avec une malformation de Dandy-Walker comme manifestation majeure | |
| de | Syndrom mit Dandy-Walker-Fehlbildung als Hauptmerkmal | |
| es | Síndrome con malformación de Dandy-Walker como característica principal | |
| it | Sindrome con malformazione di Dandy-Walker come segno cardinale | |
| nl | Syndroom met Dandy-Walker malformatie als hoofdkenmerk | |
| pt | Síndrome com uma malformação de Dandy-Walker como característica principal | |
| pl | Zespół z malformacją Dandy'ego i Walkera jako głównym objawem | |
| cs | Syndrom s Dandyho-Walkerovou malformací jako hlavním příznakem | Syndrom s Dandy-Walkerovou malformací jako hlavním příznakem |
| uk | Синдром з вадою розвитку Денді-Уокера як основною ознакою | |
| zh | 以Dandy-Walker畸形为主要特征的综合征 | |
| tr | Esas klinik özelliği Dandy-Walker malformasyonu olan sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17121 | E | validated | |
| UMLS | C5680766 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:729566Syndrome with a posterior fossa cystic malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (11):
- ORPHA:73C syndrome
- ORPHA:916Aase-Smith syndrome type 1
- ORPHA:79332B4GALT1-CDG
- ORPHA:2218Cervical hypertrichosis-peripheral neuropathy syndrome
- ORPHA:1538Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- ORPHA:1566Dandy-Walker malformation-postaxial polydactyly syndrome
- ORPHA:1970Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- ORPHA:2427Macrocephaly-short stature-paraplegia syndrome
- ORPHA:3032NPHP3-related Meckel-like syndrome
- ORPHA:73245Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- ORPHA:1568X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/269546
- This record as JSON: /data/d/269546.json