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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 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 ClinVar
OMIM		 PMID:8302318 PMID:9620771 PMID:9768693 PMID:10193875 PMID:11941477 More... NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15399
    disease of anatomical entity 15091
      endocrine system disease 6213
        adrenal gland disease 276
          Adrenal Insufficiency 181
            Proopiomelanocortin Deficiency 1
Path 2
Term Annotations click to browse term
  disease 15399
    Nutritional and Metabolic Diseases 7367
      disease of metabolism 7367
        acquired metabolic disease 2259
          nutrition disease 813
            overnutrition 602
              obesity 602
                Proopiomelanocortin Deficiency 1
paths to the root