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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:Leptin Receptor Deficiency
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Accession:DOID:9004946 term browser browse the term
Definition:Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction. LEPRD is caused by homozygous mutation in the LEPR gene on chromosome 1p31.
Synonyms:exact_synonym: LEPR-RELATED CONDITION;   LEPR-RELATED DISORDERS;   Morbid Obesity, Nonsyndromic 2
 primary_id: MIM:614963


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Leptin Receptor Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor ISO ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency OMIM
ClinVar		 PMID:8666155 PMID:9144432 PMID:9537324 PMID:9860295 PMID:11354636 More... NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprot leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:116,289,843...116,301,951
Ensembl chr 5:116,289,822...116,301,988 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        inherited metabolic disorder 6602
          Leptin Receptor Deficiency 2
Path 2
Term Annotations click to browse term
  disease 19055
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        acquired metabolic disease 2527
          nutrition disease 1023
            overnutrition 798
              obesity 798
                morbid obesity 30
                  Leptin Receptor Deficiency 2
paths to the root