Search Ontology:
Human Disease

familial partial lipodystrophy type 4

Term ID
DOID:0070205
Synonyms
  • familial partial lipodystrophy associated with PLIN1 mutations
  • FPLD4
  • PLIN1-related familial partial lipodystrophy
  • PLIN1-related FPLD
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. https://www.ncbi.nlm.nih.gov/pubmed/21345103
References
Ontology
Human Disease   ( DOID:0070205 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models