ORPHA:73217
Müllerian aplasia
Synonyms: Aplasia of the Müllerian ducts · Müllerian duct failure
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- 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 | Müllerian aplasia | Aplasia of the Müllerian ducts · Müllerian duct failure |
| fr | Aplasie müllérienne | Aplasie des canaux de Müller |
| de | Müller-Gang-Aplasie | |
| es | Aplasia mulleriana | Ausencia de conducto mulleriano |
| it | Aplasia mülleriana | Insufficienza dei dotti mülleriani |
| nl | Mülleriaanse aplasie | Aplasie van gang van Müller |
| pt | Aplasia dos canais mullerianos | Insuficiência dos canais mullerianos |
| pl | Aplazja Mullera | Zaburzenie przewodów Mullera |
| cs | Mülleriánská aplázie | Selhání Müllerova vývodu · Aplázie Müllerových vývodů |
| uk | Мюллерова аплазія | Аплазія мюллерових проток · Порушення Мюллерової протоки |
| zh | 苗勒管发育不全 | 米勒管发育不全 |
| tr | Müllerian aplazisi | Müllerian kanal yetmezliği · Müllerian kanalların aplazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0019128 | E | validated | |
| MONDO | 19128 | E | validated | |
| MeSH | C537371 | E | validated | |
| UMLS | C0431637 | E | validated | |
| GARD | 7100 | 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 (3):
- ORPHA:156622Genetic urogenital tract malformation
rare genetic diseases - ORPHA:180065Non-syndromic uterovaginal malformation
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:183731Rare genetic gynecological and obstetrical diseases
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Finland | Class only | Not yet validated | ORPHANET_11570363[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Finland | Value and class | Validated | 11570363[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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/73217
- This record as JSON: /data/d/73217.json