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ONTOLOGY REPORT - ANNOTATIONS


Term:familial partial lipodystrophy type 6
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Accession:DOID:0070206 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: FPLD6;   LIPE-related FPLD;   LIPE-related familial partial lipodystrophy;   familial partial lipodystrophy associated with LIPE mutations
 primary_id: OMIM:615980
 xref: ORDO:435660
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familial partial lipodystrophy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cela2a chymotrypsin like elastase 2A JBrowse link 5 160,374,031 160,383,782 RGD:8554872
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 738
          lipodystrophy 32
            partial lipodystrophy 12
              familial partial lipodystrophy 11
                familial partial lipodystrophy type 6 2
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          skin disease 2472
            Metabolic Skin Diseases 32
              lipodystrophy 32
                partial lipodystrophy 12
                  familial partial lipodystrophy 11
                    familial partial lipodystrophy type 6 2
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