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Familial Partial Lipodystrophy Type 6

Disease ID: disease_node_20143

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DbxrefMIM:615980, ORDO:435660
SubclassofDOID_0050440, DOID_0050737
Data SourceDOID
SynonymsFPLD6, LIPE-related FPLD, LIPE-related familial partial lipodystrophy, familial partial lipodystrophy associated with LIPE mutations
Doid Labelfamilial partial lipodystrophy type 6
Doid DescriptionA familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20143
Doid IdDOID_0070206
LabelFamilial Partial Lipodystrophy Type 6