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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital leptin deficiency
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Accession:DOID:0111334 term browser browse the term
Definition:An autosomal recessive disease 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;   morbid obesity, nonsyndromic 1;   obesity due to congenital leptin deficiency
 narrow_synonym: LEPTIN DYSFUNCTION;   Leptin Deficiency
 primary_id: OMIM:614962
 alt_id: RDO:9000665
 xref: ORDO:66628
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congenital leptin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          congenital leptin deficiency 1
Path 2
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        acquired metabolic disease 2702
          nutrition disease 846
            overnutrition 711
              obesity 711
                morbid obesity 29
                  congenital leptin deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.