ORPHA:674499
Proteoglycan-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.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proteoglycan-related bone disorder | |
| fr | Maladie osseuse liée au protéoglycane | |
| de | Knochenkrankheit, Proteoglykan-assoziierte | |
| es | Trastorno óseo asociado a proteoglicanos | |
| it | Malattia scheletrica correlata al proteoglicano | |
| nl | Proteoglycaangerelateerde botaandoening | |
| pt | Doença óssea relacionada com proteoglicanos | |
| pl | Choroba kości związane z proteoglikanami | |
| cs | Kostní porucha související s proteoglykanem | |
| uk | Захворювання кісток, повязані з протеогліканами |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5925088 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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:1865Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:251262Familial osteochondritis dissecans
- ORPHA:800Schwartz-Jampel syndrome
- ORPHA:435804Short stature-advanced bone age-early-onset osteoarthritis syndrome
- ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type
- ORPHA:93283Spondyloepiphyseal dysplasia, Kimberley type
Codes that Orphanet moved or referred to this one:
- ORPHA:93424OBSOLETE: Perlecan-related bone disorder referred to · inactive
- ORPHA:364817OBSOLETE: Aggrecan-related bone disorder referred to · inactive
- ORPHA:435808OBSOLETE: ACAN-related skeletal dysplasia referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/674499
- This record as JSON: /data/d/674499.json