FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital generalized lipodystrophy type 3 ID (Ontology) DOID:0111137 (Human Disease)
Definition A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
Also Known As "Berardinelli-Seip congenital lipodystrophy type 3"
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autosomal recessive disease_________
physical disorder___________________|
complete generalized lipodystrophy__|
                                    congenital generalized lipodystrophy
                                     |__congenital generalized lipodystrophy type 3
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Is a congenital generalized lipodystrophy
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Synonyms
  • "Berardinelli-Seip congenital lipodystrophy type 3" EXACT
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ICD10CM:E88.1
MIM:612526