familial partial lipodystrophy type 3

Term ID

DOID:0070204

Synonyms

• familial partial lipodystrophy associated with PPARG mutations
• FPLD3
• PPARG-related familial partial lipodystrophy
• PPARG-related FPLD

Definition

A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/10622252

References

• GARD:12600
• MESH:D052496
• OMIM:604367
• ORDO:79083
• SNOMEDCT_US_2023_03_01:1197745002
• UMLS_CUI:C1720861

Ontology

Human Disease   ( DOID:0070204 )