Non-rhizomelic chondrodysplasia punctata
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-rhizomelic chondrodysplasia punctata | |
| fr | Chondrodysplasie ponctuée non rhizomélique | |
| de | Chondrodysplasia punctata, nicht-rhizomeler Typ | |
| es | Condrodisplasia punctata no rizomélica | |
| it | Condrodisplasia puntata, tipo non rizomelico | |
| nl | Niet-rhizomele chondrodysplasia punctata | |
| pt | Condrodisplasia pontuada não-rizomélica | |
| pl | Chondrodysplazja punktowa nierizomeliczna | |
| cs | Non-rhizomelická chondrodysplasia punctata | |
| uk | Нерізомелічна точкова хондродисплазія | |
| zh | 非肢端点状软骨发育异常 | |
| tr | Rizomelik olmayan kondrodisplazi punktata |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015775 | E | validated | |
| MONDO | 15775 | E | validated | |
| UMLS | C5681009 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93442Chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/176
- This record as JSON: /data/d/176.json