ORPHA:93420
FGFR3-related chondrodysplasia
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FGFR3-related chondrodysplasia | |
| fr | Chondrodysplasie liée à FGFR3 | |
| de | FGFR3-abhängige Chondrodysplasie | |
| es | Condrodisplasia asociada a FGFR3 | |
| it | Condroplasia FGFR3-correlata | |
| nl | FGFR3-gerelateerde chondrodysplasie | |
| pt | Condrodisplasia FGFR3-relacionada | |
| pl | Achondroplazja i anomalia FGFR3 | |
| cs | Chondrodysplázie asociované s defektem FGFR3 | |
| uk | Хондродисплазія, повязана з FGFR3 | |
| zh | FGFR3相关软骨发育不全 | |
| tr | FGFR3-ilişkili kondrodisplazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019685 | E | validated | |
| UMLS | C5681604 | 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:364803Rare bone disease related to a common gene or pathway defect
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 8.1 / 100 000 | United States | Value and class | Validated | 22461456[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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/93420
- This record as JSON: /data/d/93420.json