familial partial lipodystrophy type 6

Term ID

DOID:0070206

Synonyms

• familial partial lipodystrophy associated with LIPE mutations
• FPLD6
• LIPE-related familial partial lipodystrophy
• LIPE-related FPLD

Definition

A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/24848981

References

• OMIM:615980
• ORDO:435660

Ontology

Human Disease   ( DOID:0070206 )