Roch-Leri mesosomatous lipomatosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 1 |
| OrphanetNr: | 529 |
| OMIM Id: |
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| ICD-10: |
E88.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic subcutaneous tissue disease
-Rare genetic disease Subcutaneous tissue disease -Rare skin disease |
Symptom Information:
|
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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