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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 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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G LEPROT leptin receptor overlapping transcript ISO ClinVar Annotator: match by term: Leptin receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:146,974,641...146,987,261
Ensembl chr 6:146,974,639...146,987,242
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    Nutritional and Metabolic Diseases 7360
      disease of metabolism 7360
        inherited metabolic disorder 5824
          Leptin Receptor Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15390
    Nutritional and Metabolic Diseases 7360
      disease of metabolism 7360
        acquired metabolic disease 2257
          nutrition disease 809
            overnutrition 601
              obesity 601
                morbid obesity 28
                  Leptin Receptor Deficiency 2
paths to the root