ORPHA:140997
Orofaciodigital syndrome
Synonyms: OFD · Oral-facial-digital syndrome
- Type
- Clinical group
- 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 | Orofaciodigital syndrome | OFD · Oral-facial-digital syndrome |
| fr | Syndrome oro-facio-digital | OFD · Syndrome orofaciodigital |
| de | Oro-fazio-digitales Syndrom | OFD |
| es | Síndrome orofaciodigital | OFD |
| it | Sindrome orofaciodigitale | OFD · Sindrome oro-facio-digitale |
| nl | Orofaciodigitaal syndroom | OFD · Oraal-faciaal-digitaal syndroom |
| pt | Síndrome orofaciodigital | |
| pl | Zespół ustno-twarzowo-palcowy | OFD |
| cs | Orofaciodigitální syndrom | OFD |
| uk | Орофаціодигітальний синдром | OFD · Орально-лицево-пальцевий синдром |
| zh | 口面指综合征 | 口面指综合征 |
| tr | Orofasiyodijital sendromu | OFD · Oral-fasiyal-dijital sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD25.00 | E | specific | validated |
| MONDO | 0015375 | E | validated | |
| MONDO | 15375 | E | validated | |
| MeSH | D009958 | E | validated | |
| UMLS | C0029294 | E | validated | |
| GARD | 10692 | 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 (7):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156215Oromandibular-limb anomalies syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (10):
- ORPHA:2750Orofaciodigital syndrome type 1
- ORPHA:141000Orofaciodigital syndrome type 11
- ORPHA:434179Orofaciodigital syndrome type 14
- ORPHA:508501Orofaciodigital syndrome type 18
- ORPHA:2751Orofaciodigital syndrome type 2
- ORPHA:2753Orofaciodigital syndrome type 4
- ORPHA:2919Orofaciodigital syndrome type 5
- ORPHA:2754Orofaciodigital syndrome type 6
- ORPHA:2755Orofaciodigital syndrome type 8
- ORPHA:141007Orofaciodigital syndrome type 9
Codes that Orphanet moved or referred to this one:
- ORPHA:2756OBSOLETE: Orofaciodigital syndrome type 10 referred to · inactive
- ORPHA:141327OBSOLETE: Orofaciodigital syndrome type 12 referred to · inactive
- ORPHA:141330OBSOLETE: Orofaciodigital syndrome type 13 referred to · inactive
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140997
- This record as JSON: /data/d/140997.json