LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3

FPLD3

http://purl.bioontology.org/ontology/OMIM/604367

FPLD3

LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS

C1720861

3p25

PPARG1

PPARG

GLM1

PPARG2

CIMT1

http://purl.bioontology.org/ontology/OMIM/MTHU003052

http://purl.bioontology.org/ontology/OMIM/MTHU000372

http://purl.bioontology.org/ontology/OMIM/MTHU004758

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU004760

http://purl.bioontology.org/ontology/OMIM/MTHU004755

http://purl.bioontology.org/ontology/OMIM/MTHU002042

http://purl.bioontology.org/ontology/OMIM/MTHU004761

http://purl.bioontology.org/ontology/OMIM/MTHU002035

http://purl.bioontology.org/ontology/OMIM/MTHU002065

http://purl.bioontology.org/ontology/OMIM/MTHU004764

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU004754

http://purl.bioontology.org/ontology/OMIM/MTHU004766

http://purl.bioontology.org/ontology/OMIM/MTHU004763

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU004757

http://purl.bioontology.org/ontology/OMIM/MTHU002062

http://purl.bioontology.org/ontology/OMIM/MTHU004762

http://purl.bioontology.org/ontology/OMIM/MTHU004765

http://purl.bioontology.org/ontology/OMIM/MTHU002022

http://purl.bioontology.org/ontology/OMIM/MTHU002081

http://purl.bioontology.org/ontology/OMIM/MTHU004759

http://purl.bioontology.org/ontology/OMIM/MTHU002080

http://purl.bioontology.org/ontology/OMIM/MTHU036761

Phenotype description, molecular basis known.

604367

3

pound

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3

Caused by mutation in the peroxisome proliferator-activated receptor-gamma gene (PPARG, 601487.0007) [MOLECULAR BASIS]

Onset of insulin resistance may occur in childhood [MISCELLANEOUS]

Onset of major clinical features in young adulthood [MISCELLANEOUS]

T047