ORPHA:98305
Genetic lipodystrophy
- 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 | Genetic lipodystrophy | |
| fr | Lipodystrophie génétique | |
| de | Lipodystrophie, genetisch bedingte | |
| es | Lipodistrofia genética | |
| it | Lipodistrofia genetica | |
| nl | Genetische lipodystrofie | |
| pt | Lipodistrofia genética | |
| pl | Lipodystrofia genetyczna | |
| cs | Genetická lipodystrofie | |
| uk | Генетично обумовлена ліподистрофія | |
| zh | 遗传性脂肪营养不良 | |
| tr | Genetik lipodistrofi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD27.6 | E | specific | validated |
| UMLS | C4511302 | 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 (3):
- ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:90970Primary lipodystrophy
rare skin diseases; rare endocrine diseases - ORPHA:156638Rare genetic endocrine disease
rare genetic diseases
Children (13):
- ORPHA:528Congenital generalized lipodystrophy
- ORPHA:98306Familial partial lipodystrophy
- ORPHA:435628Keppen-Lubinsky syndrome
- ORPHA:1979Lipodystrophy due to peptidic growth factors deficiency
- ORPHA:686999Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
- ORPHA:50811Lipodystrophy-intellectual disability-deafness syndrome
- ORPHA:363649Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
- ORPHA:2457Mandibuloacral dysplasia
- ORPHA:280576Nestor-Guillermo progeria syndrome
- ORPHA:363400Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
- ORPHA:324977Proteasome-associated autoinflammatory syndrome
- ORPHA:3163SHORT syndrome
- ORPHA:3455Wiedemann-Rautenstrauch 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/98305
- This record as JSON: /data/d/98305.json