ORPHA:98053
Rare genetic disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
- Flag
- Head of classification
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 disease | |
| fr | Maladie génétique rare | |
| de | Krankheit, genetisch bedingte | |
| es | Enfermedades genéticas raras | |
| it | Malattia genetica rara | |
| nl | Zeldzame genetische ziekte | |
| pt | Doença genética | |
| pl | Rzadkie choroby genetyczne | |
| cs | Vzácná geneticky podmíněná onemocnění | |
| uk | Рідкісне генетично обумовлене захворювання | |
| zh | 罕见遗传性疾病 | |
| tr | Nadir genetik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681510 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Not placed in any Orphanet classification in this release.
Children (30):
- ORPHA:447874Biological anomaly without phenotypic characterization
- ORPHA:363250Ciliopathy
- ORPHA:275742Genetic infertility
- ORPHA:466084Genetic otorhinolaryngologic disease
- ORPHA:641343Imprinting disorders
- ORPHA:140162Inherited cancer-predisposing syndrome
- ORPHA:98301Laminopathy
- ORPHA:536391RASopathy
- ORPHA:68335Rare chromosomal anomaly
- ORPHA:183524Rare genetic bone disease
- ORPHA:98054Rare genetic cardiac disease
- ORPHA:183530Rare genetic developmental defect during embryogenesis
- ORPHA:156638Rare genetic endocrine disease
- ORPHA:101435Rare genetic eye disease
- ORPHA:165652Rare genetic gastroenterological disease
- ORPHA:183731Rare genetic gynecological and obstetrical diseases
- ORPHA:158300Rare genetic hematologic disease
- ORPHA:156601Rare genetic hepatic disease
- ORPHA:183770Rare genetic immune disease
- ORPHA:71859Rare genetic neurological disorder
- ORPHA:77830Rare genetic odontologic disease
- ORPHA:98056Rare genetic renal disease
- ORPHA:156610Rare genetic respiratory disease
- ORPHA:68346Rare genetic skin disease
- ORPHA:271870Rare genetic systemic or rheumatologic disease
- ORPHA:68336Rare genetic tumor
- ORPHA:156619Rare genetic urogenital disease
- ORPHA:233655Rare genetic vascular disease
- ORPHA:68367Rare inborn error of metabolism
- ORPHA:250805Serpinopathy
Codes that Orphanet moved or referred to this one:
- ORPHA:275534OBSOLETE: Myostatin-related muscle hypertrophy referred to · inactive
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/98053
- This record as JSON: /data/d/98053.json