ORPHA:207085
Qualitative or quantitative defects of dystrophin
Synonyms: Dystrophinopathy
- 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 | Qualitative or quantitative defects of dystrophin | Dystrophinopathy |
| fr | Anomalie qualitative ou quantitative de la dystrophine | Dystrophinopathie |
| de | Dystrophin, qualitative oder quantitative Defekte | |
| es | Defectos cualitativos o cuantitativos de la distrofina | Defectos cuantitativos o cualitativos de la distrofina |
| it | Deficit qualitativi o quantitativi di distrofina | |
| nl | Kwalitatieve of kwantitatieve defecten van dystrofine | Dystrofinopathie |
| pt | Deficiências qualitativas ou quantitativas da distrofina | |
| pl | Defekty jakościowe lub ilościowe dystrofiny | Dystrofinopatia |
| cs | Kvalitativní nebo kvantitativní defekty dystrofinu | Dystrofinopatie |
| uk | Якісні або кількісні дефекти дистрофіну | Дистрофінопатія |
| zh | 肌营养不良蛋白的定性或定量缺陷 | 肌营养不良蛋白病 |
| tr | Distrofinin kalitatif veya kantitatif defekti | Distrofinopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016147 | E | validated | |
| MONDO | 16147 | E | validated | |
| UMLS | C5679787 | E | validated | |
| GARD | 2031 | 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:207049Qualitative or quantitative protein defects in neuromuscular diseases
rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:206606OBSOLETE: Other muscle weakness and/or chronic muscle pain referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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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/207085
- This record as JSON: /data/d/207085.json