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ONTOLOGY REPORT - ANNOTATIONS


Term:familial partial lipodystrophy type 5
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Accession:DOID:0070203 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: CIDEC-related FPLD;   FPLD5;   familial partial lipodystrophy associated with CIDEC mutations
 primary_id: OMIM:615238
 alt_id: DOID:9007119;   RDO:9000878
 xref: ORDO:435651
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familial partial lipodystrophy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cidec cell death-inducing DFFA-like effector c JBrowse link 4 145,377,482 145,390,497 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 734
          lipodystrophy 31
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 5 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Metabolic Skin Diseases 31
              lipodystrophy 31
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.