ORPHA:93421
Type 2 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 2 collagen-related bone disorder | |
| fr | Maladie osseuse liée au collagène 2 | |
| de | Kollagen Typ 2-assoziierte Knochenkrankheit | |
| es | Trastorno óseo asociado al colágeno tipo 2 | |
| it | Difetto osseo legato al collagene, tipo 2 | |
| nl | Type 2 collageengerelateerde botaandoening | |
| pt | Doença óssea colagénio tipo 2-relacionada | |
| pl | Anomalia kolagenu typu 2 | |
| cs | Onemocnění kostí asociovaná s defektem kolagenu 2 | |
| uk | Колагенові розлади кісток, повязані з колагеном 2 типу | |
| zh | 胶原蛋白相关骨病2型 | |
| tr | Tip 2 kollajen-ilişkili kemik bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0022800 | E | validated | |
| UMLS | C5681603 | 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 (16):
- ORPHA:93296Achondrogenesis type 2
- ORPHA:1427Autosomal recessive otospondylomegaepiphyseal dysplasia
- ORPHA:86820Familial avascular necrosis of femoral head
- ORPHA:93297Hypochondrogenesis
- ORPHA:485Kniest dysplasia
- ORPHA:2380Legg-Calvé-Perthes disease
- ORPHA:93279Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- ORPHA:85166Platyspondylic dysplasia, Torrance type
- ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- ORPHA:94068Spondyloepiphyseal dysplasia congenita
- ORPHA:137678Spondyloepiphyseal dysplasia with metatarsal shortening
- ORPHA:459051Spondyloepiphyseal dysplasia, Stanescu type
- ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type
- ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type
- ORPHA:1856Spondyloperipheral dysplasia-short ulna syndrome
- ORPHA:90653Stickler syndrome type 1
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/93421
- This record as JSON: /data/d/93421.json