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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:congenital leptin deficiency
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Accession:DOID:0111334 term browser browse the term
Definition:A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. (DO)
Synonyms:exact_synonym: LEPD;   LEPTIN DEFICIENCY OR DYSFUNCTION;   nonsyndromic morbid obesity 1;   obesity due to congenital leptin deficiency
 narrow_synonym: LEPTIN DYSFUNCTION;   Leptin Deficiency
 primary_id: OMIM:614962
 xref: ORDO:66628
For additional species annotation, visit the Alliance of Genome Resources.

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congenital leptin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lep leptin ISO ClinVar Annotator: match by OMIM:614962
ClinVar Annotator: match by term: Leptin dysfunction
ClinVar Annotator: match by term: Leptin deficiency or dysfunction		 OMIM
ClinVar		 PMID:9202122, PMID:9500540, PMID:9745435, PMID:12393845, PMID:15070752, PMID:15472169, PMID:15937081, PMID:20140086, PMID:25551525, PMID:25741868, PMID:28209183, PMID:28492532 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      congenital leptin deficiency 1
Path 2
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          nutrition disease 918
            overnutrition 762
              obesity 762
                morbid obesity 30
                  congenital leptin deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.