familial partial lipodystrophy type 2

Term ID

DOID:0070202

Synonyms

• 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

• GARD:3126
• MESH:D052496
• NCI:C165527
• OMIM:151660
• ORDO:2348
• SNOMEDCT_US_2023_03_01:715439000
• UMLS_CUI:C1720860

Ontology

Human Disease   ( DOID:0070202 )