FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial partial lipodystrophy type 4 ID (Ontology) DOID:0070205 (Human Disease)
Definition A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26.
Also Known As "familial partial lipodystrophy associated with PLIN1 mutations" ; "FPLD4" ; "PLIN1-related familial partial lipodystrophy" (for all, see Synonyms field below)
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 Genes
 familial partial lipodystrophy type 4       1
 for disease ribbon | familial partial lipodystrophy type 4       1
 model of | familial partial lipodystrophy type 4       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease______
partial lipodystrophy               |
 |__familial partial lipodystrophy__|
                                    familial partial lipodystrophy type 4  1 rec.
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Is a familial partial lipodystrophy
autosomal dominant disease
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Synonyms
  • "familial partial lipodystrophy associated with PLIN1 mutations" EXACT
    "FPLD4" EXACT OMO:0003012
    "PLIN1-related familial partial lipodystrophy" EXACT
    "PLIN1-related FPLD" EXACT
Secondary IDs
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GARD:12601
MIM:613877
ORDO:280356