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familial partial lipodystrophy type 2

^ http://purl.obolibrary.org/obo/DOID_0070202


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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/170190 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/10587585 ]

Synonyms: reverse partial lipodystrophy, familial partial lipodystrophy Dunnigan type, familial lipodystrophy of limbs and lower trunk, FPLD2

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DOID:0070202