ORPHA:295191
Zygodactyly type 3
Synonyms: SD1, Montagu type · SD1c · Syndactyly type 1, Montagu type · Syndactyly type 1c · Zygodactyly, Montagu type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Syndactyly type 1
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Zygodactyly type 3 | SD1, Montagu type · SD1c · Syndactyly type 1, Montagu type · Syndactyly type 1c · Zygodactyly, Montagu type |
| fr | Zygodactylie type 3 | SD1 type Montagu · SD1c · Syndactylie type 1 type Montagu · Syndactylie type 1c · Zygodactylie type Montagu |
| de | Zygodaktylie Typ 3 | SD1 Typ Montagu · SD1c · Syndaktylie Typ 1, Typ Montagu · Syndaktylie Typ 1c · Zygodaktylie Typ Montagu |
| es | Zigodactilia tipo 3 | SD1 tipo Montagu · SD1c · Sindactilia tipo 1, tipo Montagu · Sindactilia tipo 1c · Zigodactilia tipo Montagu |
| it | Zigodattilia, tipo 3 | Sindattilia tipo 1, tipo Montagu · Sindattilia, tipo 1c · Zigodattilia, tipo Montagu · SD1, tipo Montagu · SD1c |
| nl | Zygodactylie type 3 | SD1, Montagu-type · SD1c · Syndactylie type 1, Montagu-type · Syndactylie type 1c · Zygodactylie, Montagu-type |
| pt | Zigodactilia tipo 3 | SD1, tipo Montagu · SD1c · Sindactilia tipo 1, tipo Montagu · Sindactilia tipo 1c · Zigodactilia, tipo Montagu |
| pl | Zygodaktylia typu 3 | SD1, typ Montagu'a · SD1c · Syndaktylia typu 1c · Syndaktylia typu, typ Montagu'a · Zygodaktylia, typ Montagu'a |
| cs | Zygodaktylie, typ 3 | SD1c · Syndaktylie, typ 1c · SD1, Montaguův typ · Syndaktylie typ 1, Montaguův typ · Zygodaktylie, Montaguův typ |
| uk | Зигодактилія, тип 3 | SD1, тип Montagu · SD1c · Синдактилія типу 1, тип Монтегю · Синдактилія типу 1c · Зигодактилія, тип Монтагу |
| zh | 并指3型 | 并指（趾）Montagu型 |
| tr | Zigodaktili tip 3 | SD1c · SD1, Montagu tipi · Sindaktili tip 1c · Zygodaktil, Montagu tipi · Sindaktili tip 1, Montagu tipi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q70.0 | BTNT | attributed | validated |
| ICD-10 | Q70.1 | BTNT | attributed | validated |
| ICD-10 | Q70.2 | BTNT | attributed | validated |
| ICD-10 | Q70.3 | BTNT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0017544 | E | validated | |
| UMLS | C5679983 | 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:93402Syndactyly type 1
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXD13 | Disease-causing germline mutation(s) in | Assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 24789103[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/295191
- This record as JSON: /data/d/295191.json