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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:Proopiomelanocortin Deficiency
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Accession:DOID:9005103 term browser browse the term
Definition:An autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. (OMIM)
Synonyms:exact_synonym: OBAIRH;   OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY;   Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair;   POMC-RELATED CONDITION
 xref: MESH:C565726;   MIM:609734;   MONDO:0012335


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Proopiomelanocortin Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency		 CTD
ClinVar
OMIM		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      endocrine system disease 7029
        adrenal gland disease 293
          Adrenal Insufficiency 192
            Proopiomelanocortin Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        acquired metabolic disease 2529
          nutrition disease 1026
            overnutrition 798
              obesity 798
                Proopiomelanocortin Deficiency 1
paths to the root