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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 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 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        lipid metabolism disorder 726
          lipodystrophy 31
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 6 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          skin disease 2447
            Metabolic Skin Diseases 31
              lipodystrophy 31
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.