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Metadata
ID DOID:0070204
Name familial partial lipodystrophy type 3
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
Xrefs

GARD:12600

MESH:D052496

OMIM:604367

ORDO:79083

SNOMEDCT_US_2023_03_01:1197745002

UMLS_CUI:C1720861

Subsets

DO_rare_slim

Synonyms

familial partial lipodystrophy associated with PPARG mutations [EXACT]

FPLD3 [EXACT]

PPARG-related familial partial lipodystrophy [EXACT]

PPARG-related FPLD [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a familial partial lipodystrophy

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