ORPHA:209059
Qualitative or quantitative defects of alpha-actin
- 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 alpha-actin | |
| fr | Anomalie qualitative ou quantitative de l'alpha-actine | |
| de | Apha-Aktinin, qualitative oder quantitative Defekte | |
| es | Anomalías cualitativas o cuantitativas de alfa-actina | |
| it | Alterazioni qualitative o quantitative di alfa-actina | |
| nl | Kwalitatieve of kwantitatieve defecten van alfa-actine | |
| pt | Deficiências qualitativas e quantitativas da alfa-actina | |
| pl | Defekty jakościowe lub ilościowe alfa-aktyny | |
| cs | Kvalitativní nebo kvantitativní defekty alfa-aktinu | |
| uk | Якісні або кількісні дефекти альфа-актину | |
| zh | α-肌动蛋白定性或定量缺陷 | |
| tr | Alfa-aktin kalitatif veya kantitatif defekti |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016193 | E | validated | |
| MONDO | 16193 | E | validated | |
| UMLS | C5680845 | 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:207049Qualitative or quantitative protein defects in neuromuscular diseases
rare genetic diseases
Children (7):
- ORPHA:171442Adult-onset nemaline myopathy
- ORPHA:171439Childhood-onset nemaline myopathy
- ORPHA:2020Congenital fiber-type disproportion myopathy
- ORPHA:98904Congenital myopathy with excess of thin filaments
- ORPHA:171433Intermediate nemaline myopathy
- ORPHA:171430Severe congenital nemaline myopathy
- ORPHA:171436Typical nemaline myopathy
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209059
- This record as JSON: /data/d/209059.json