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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 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. (DO)
Synonyms:exact_synonym: FAMILIAL PARTIAL LIPODYSTROPHY 2;   lipoatrophic diabetes
 primary_id: MESH:D003923
 xref: EFO:0007346;   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 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G INSR insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Familial partial lipodystrophy 2 ClinVar
RGD		 PMID:262236 PMID:2007407 PMID:2526018 PMID:2733290 PMID:9500556 More... RGD:1580516 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Familial partial lipodystrophy 2 ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Familial partial lipodystrophy 2 ClinVar PMID:12920062 PMID:18414213 PMID:18795223 PMID:19318026 PMID:19424285 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          lipodystrophy 235
            lipoatrophic diabetes mellitus 5
              AREDYLD Syndrome 0
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7856
            carbohydrate metabolic disorder 3612
              glucose metabolism disease 1993
                diabetes mellitus 1828
                  type 2 diabetes mellitus 1031
                    lipoatrophic diabetes mellitus 5
                      AREDYLD Syndrome 0
paths to the root