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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:lipoatrophic diabetes mellitus
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Accession:DOID:11712 term browser browse the term
Definition:A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED).
Synonyms:exact_synonym: FAMILIAL PARTIAL LIPODYSTROPHY 2;   lipoatrophic diabetes
 primary_id: MESH:D003923
 alt_id: RDO:0003272
 xref: NCI:C34537
For additional species annotation, visit the Alliance of Genome Resources.


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lipoatrophic diabetes mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:liver,serum: RGD PMID:19277603 RGD:8657358
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy 2
ClinVar Annotator: match by term: Lipoatrophic diabetes
ClinVar PMID:2007407 PMID:2270059 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11136544 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11792809 PMID:11792811 PMID:12015247 PMID:12075506 PMID:12196663 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12702809 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15219508 PMID:15475483 PMID:15531479 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16218190 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16636128 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17377071 PMID:17711925 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18604166 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19169477 PMID:19201734 PMID:19220582 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19859838 PMID:19933576 PMID:20041886 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20376791 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21465660 PMID:21520333 PMID:21883346 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23243001 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23783098 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24080738 PMID:24375749 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25524705 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25885670 PMID:26165385 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26662654 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28874324 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29438482 PMID:29693488 PMID:29791652 PMID:30012837 PMID:30165862 PMID:30420677 PMID:30488537 PMID:31525256 PMID:32004434, PMID:12196663 RGD:1580516 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Nutritional and Metabolic Diseases 5216
      disease of metabolism 5216
        lipid metabolism disorder 926
          lipodystrophy 37
            lipoatrophic diabetes mellitus 3
              AREDYLD Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16929
    Nutritional and Metabolic Diseases 5216
      disease of metabolism 5216
        acquired metabolic disease 2794
          carbohydrate metabolism disease 1787
            glucose metabolism disease 1787
              diabetes mellitus 1395
                type 2 diabetes mellitus 727
                  lipoatrophic diabetes mellitus 3
                    AREDYLD Syndrome 0
paths to the root