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Human Disease
familial partial lipodystrophy type 2
- Term ID
- DOID:0070202
- Synonyms
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- familial lipodystrophy of limbs and lower trunk
- familial partial lipodystrophy Dunnigan type
- FPLD2
- reverse partial lipodystrophy
- Definition
- A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (2)
- References
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- GARD:3126
- MESH:D052496
- MIM:151660
- NCI:C165527
- ORDO:2348
- SNOMEDCT_US_2023_03_01:715439000
- UMLS_CUI:C1720860
- Ontology
- Human Disease ( DOID:0070202 )
- is a type of
-
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