ORPHA:295203
Congenital vertical talus, bilateral
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Congenital vertical talus
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital vertical talus, bilateral | |
| fr | Pied convexe congénital bilatéral | Pied en piolet congénital bilatéral |
| de | Talus verticalis, kongenital, bilateral | |
| es | Astrágalo vertical congénito bilateral | |
| it | Talo verticale congenito bilaterale | |
| nl | Congenitale verticale talus, bilateraal | |
| pt | Talo vertical congénito, bilateral | |
| pl | Wrodzona stopa płasko-koślawa, obustronna | |
| cs | Bilaterální vrozený vertikální talus | |
| uk | Вроджена вертикальна таранна кістка, двостороння | |
| zh | 先天性双侧垂直距骨 | |
| tr | Doğumsal vertikal talus, bilateral |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192950 | NTBT | validated | |
| ICD-10 | Q66.8 | NTBT | attributed | validated |
| ICD-11 | LB98.4 | NTBT | index | validated |
| MONDO | 0017547 | E | validated | |
| UMLS | C1860446 | 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:178382Congenital vertical talus
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXD10 | Disease-causing germline mutation(s) in | Assessed | HGNC:5133 | ENSG00000128710 | 142984 | 2q31.1 | homeobox D10 | 15146389[PMID]_16450407[PMID] |
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/295203
- This record as JSON: /data/d/295203.json