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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 More... NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    physical disorder 3094
      congenital leptin deficiency 1
Path 2
Term Annotations click to browse term
  disease 17256
    Nutritional and Metabolic Diseases 5551
      disease of metabolism 5551
        acquired metabolic disease 2897
          nutrition disease 924
            overnutrition 741
              obesity 741
                morbid obesity 30
                  congenital leptin deficiency 1
paths to the root