Search Ontology:
Human Disease

familial partial lipodystrophy type 6

Term ID
DOID:0070206
Synonyms
  • familial partial lipodystrophy associated with LIPE mutations
  • FPLD6
  • LIPE-related familial partial lipodystrophy
  • LIPE-related FPLD
Definition
A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/24848981
References
Ontology
Human Disease   ( DOID:0070206 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models