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ONTOLOGY REPORT - ANNOTATIONS


Term:familial partial lipodystrophy type 4
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Accession:DOID:0070205 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FPLD4;   PLIN1-related FPLD;   PLIN1-related familial partial lipodystrophy;   familial partial lipodystrophy associated with PLIN1 mutations
 primary_id: OMIM:613877
 xref: GARD:12601;   ORDO:280356
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familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plin1 perilipin 1 JBrowse link 1 141,458,907 141,470,927 RGD:8554872
RGD:7240710

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 4 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 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.