ORPHA:485382
Rare genetic premature ovarian failure
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare genetic premature ovarian failure | |
| fr | Insuffisance ovarienne précoce génétique rare | |
| de | Seltene genetisch bedingte vorzeitige Ovarialinsuffizienz | |
| es | Fallo ovárico prematuro genético raro | |
| it | Insufficienza ovarica precoce genetica rara | |
| nl | Zeldzaam genetisch prematuur ovariumfalen | Zeldzaam genetisch prematuur ovarieel falen |
| pt | Falência ovárica prematura rara genética | |
| pl | Przedwczesne wygasanie czynności jajników uwarunkowane genetycznie | Rzadka, genetycznie uwarunkowana przedwczesna niewydolność jajników |
| cs | Geneticky podmíněné předčasné ovariální selhání | |
| uk | Рідкісна генетично обумовлена передчасна оваріальна недостатність | |
| zh | 遗传性非获得性卵巢早衰 | |
| tr | Genetik edinsel olmayan prematüre yumurtalık yetmezliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5925042 | 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 (2):
- ORPHA:202940Anomaly of puberty or/and menstrual cycle of genetic origin
rare genetic diseases - ORPHA:156638Rare genetic endocrine disease
rare genetic diseases
Children (16):
- ORPHA:24346,XX gonadal dysgenesis
- ORPHA:44404846,XX ovarian dysgenesis-short stature syndrome
- ORPHA:91Aromatase deficiency
- ORPHA:100Ataxia-telangiectasia
- ORPHA:572354Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
- ORPHA:79239Classic galactosemia
- ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- ORPHA:90790Congenital lipoid adrenal hyperplasia due to STAR deficency
- ORPHA:642691Fragile X-associated primary ovarian insufficiency
- ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome
- ORPHA:75325Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- ORPHA:2855Perrault syndrome
- ORPHA:9Tetrasomy X syndrome
- ORPHA:3375Trisomy X syndrome
- ORPHA:881Turner syndrome
- ORPHA:96201X small rings syndrome
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/485382
- This record as JSON: /data/d/485382.json