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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:Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans
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Accession:DOID:9001751 term browser browse the term
Synonyms:exact_synonym: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A;   INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS;   IRAN, Type A;   Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans
 primary_id: MESH:C562710
 alt_id: OMIM:610549;   RDO:0012305
 xref: EFO:1001503


show annotations for term's descendants           Sort by:
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A		 OMIM
CTD
ClinVar		 PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: IRAN, TYPE A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      endocrine system disease 6773
        diabetes mellitus 1658
          Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              pigmentation disease 277
                Hyperpigmentation 50
                  Melanosis 40
                    acanthosis nigricans 9
                      Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans 2
paths to the root