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ONTOLOGY REPORT - ANNOTATIONS


Term:familial partial lipodystrophy type 2
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Accession:DOID:0070202 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: Dunnigan syndrome;   FPLD2;   familial lipodystrophy of limbs and lower trunk;   familial partial lipodystrophy Dunnigan type;   partial lipodystrophy, Dunnigan
 primary_id: OMIM:151660
 xref: GARD:3126;   ORDO:2348
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familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 736
          lipodystrophy 31
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          skin disease 2461
            Metabolic Skin Diseases 31
              lipodystrophy 31
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.