ORPHA:1027
Autosomal recessive amelia
inactive · moved to ORPHA:3301Tetraamelia-multiple malformations syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tetraamelia-multiple malformations syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive amelia | |
| fr | Amélie autosomique récessive | |
| de | Amelie, autosomal-rezessive | |
| es | Amelia autosómica recesiva | |
| it | Amelia autosomica recessiva | |
| nl | Autosomaal recessieve amelie | |
| pt | Amelia autossómica recessiva | |
| pl | Amelia autosomalna recesywna | |
| cs | Autozomálně recesivní amélie | |
| uk | Аутосомно-рецесивна амелія | |
| zh | 常染色体隐性遗传无肢畸形 | |
| tr | Otozomal resesif ameli |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601360 | E | validated | |
| MONDO | 0011054 | E | validated | |
| MeSH | C563338 | E | validated | |
| UMLS | C1832432 | 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
Not placed in any Orphanet classification in this release.
No children.
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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/1027
- This record as JSON: /data/d/1027.json