Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways

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
go back to main search page
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;   leptin deficiency or dysfunction;   leptin dysfunction;   nonsyndromic morbid obesity 1;   obesity due to congenital leptin deficiency
 broad_synonym: LEP-related condition
 xref: MIM:614962;   MONDO:0013991;   ORDO:66628



show annotations for term's descendants           Sort by:
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 term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency OMIM
ClinVar
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 More... NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661
JBrowse link
G Lepr leptin receptor ISO ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency ClinVar PMID:25741868 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital leptin deficiency 2
Path 2
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        acquired metabolic disease 2573
          nutrition disease 1037
            overnutrition 801
              obesity 801
                morbid obesity 29
                  congenital leptin deficiency 2
paths to the root