familial partial lipodystrophy type 5

Term ID

DOID:0070203

Synonyms

• CIDEC-related FPLD
• familial partial lipodystrophy associated with CIDEC mutations
• FPLD5

Definition

A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/20049731

References

• OMIM:615238
• ORDO:435651

Ontology

Human Disease   ( DOID:0070203 )