ORPHA:93422
Type 11 collagen-related bone disorder
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Type 11 collagen-related bone disorder | |
| fr | Maladie osseuse liée au collagène 11 | |
| de | Kollagen Typ 11-assoziierte Knochenkrankheit | |
| es | Trastorno óseo asociado al colágeno tipo 11 | |
| it | Difetto osseo legato al collagene, tipo 11 | |
| nl | Type 11 collageengerelateerde botaandoening | |
| pt | Doença óssea colagénio tipo 11-relacionada | |
| pl | Anomalia kolagenu typu 11 | |
| cs | Onemocnění kostí asociovaná s defektem kolagenu 11 | |
| uk | Колагенові розлади кісток, повязані з колагеном 11 типу | |
| zh | 胶原蛋白相关骨病11型 | |
| tr | Tip 11 kollajen-ilişkili kemik bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681606 | 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
Children (6):
- ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:1427Autosomal recessive otospondylomegaepiphyseal dysplasia
- ORPHA:2021Fibrochondrogenesis
- ORPHA:560Marshall syndrome
- ORPHA:90654Stickler syndrome type 2
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/93422
- This record as JSON: /data/d/93422.json