ORPHA:369886
Homozygous 2p21 microdeletion syndrome
Synonyms: 2p21 contiguous gene deletion syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- 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 | Homozygous 2p21 microdeletion syndrome | 2p21 contiguous gene deletion syndrome |
| fr | Syndrome de microdélétion 2p21 homozygote | Syndrome de délétion de gènes contigus 2p21 |
| de | Mikrodeletionssyndrom 2p21, homozygotes | 2p21-Contiguous gene deletion-Syndrom |
| es | Síndrome de microdeleción 2p21 homocigota | Síndrome de deleción de genes contiguos 2p21 |
| it | Sindrome da microdelezione 2p21omozigote | Sindrome da delezione di geni contigui 2p21 |
| nl | Homozygote 2p21-microdeletiesyndroom | 2p21-'contiguous gene'-deletiesyndroom |
| pt | Síndrome de microdeleção 2p21 homozigótica | |
| pl | Homozygotyczny zespół mikrodelecji 2p21 | Zespół delecji przyległych genów 2p21 |
| cs | Mikrodeleční syndrom 2p21 homozygotní | 2p21 syndrom přilehlých genů |
| uk | Гомозиготний синдром мікроделеції 2p21 | Синдром делеції суміжного гена 2р21 |
| zh | 纯合2p21微缺失综合征 | 2p21邻近基因缺失综合征 |
| tr | Homozigot 2p21 mikrodelesyon sendromu | 2p21 bitişik gen delesyon sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18246 | E | validated | |
| UMLS | C5679912 | 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:261866Partial deletion of the short arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 23794250[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/369886
- This record as JSON: /data/d/369886.json