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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:morbid obesity
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Accession:DOID:11981 term browser browse the term
Definition:The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2.
Synonyms:exact_synonym: morbid obesities;   severe obesities;   severe obesity
 primary_id: MESH:D009767
 xref: EFO:0001074;   ICD9CM:278.01;   NCI:C34858
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
morbid obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short-chain family member 2 treatment ISO RGD PMID:22384010 RGD:13831306 NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:164,464,055...164,519,830
JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29311637 NCBI chr 6:32,819,602...32,923,174
Ensembl chr 6:32,843,961...32,923,173
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:22828946 RGD:7243249 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685
JBrowse link
G Apln apelin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma
RGD PMID:19756893 PMID:15970339 RGD:2313938, RGD:1600932 NCBI chr  X:132,058,739...132,091,518
Ensembl chr  X:132,081,759...132,091,246
JBrowse link
G Aqp7 aquaporin 7 ISO mRNA:decreased expression:subcutaneous adipose tissue RGD PMID:17566090 RGD:1626289 NCBI chr 5:60,968,495...60,982,618
Ensembl chr 5:60,967,558...60,982,618
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 susceptibility ISO DNA:SNPs RGD PMID:17003356 RGD:1601311 NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657
JBrowse link
G Cck cholecystokinin ISO RGD PMID:17443025 RGD:1625798 NCBI chr 8:130,031,012...130,037,702
Ensembl chr 8:130,031,013...130,037,686
JBrowse link
G Cpe carboxypeptidase E ISO mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects RGD PMID:12530526 RGD:1626182 NCBI chr16:29,796,707...29,908,647
Ensembl chr16:29,796,689...29,909,524
JBrowse link
G Ctnnbl1 catenin, beta like 1 susceptibility
no_association
ISO DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) RGD PMID:19245693 PMID:19228371 RGD:9850251, RGD:9850253 NCBI chr 3:166,807,899...166,968,932
Ensembl chr 3:166,807,858...166,968,931
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO RGD PMID:12883487 RGD:1626305 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO RGD PMID:19188925 RGD:2313745 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:148,421,315...148,425,969
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:subcutaneous adipose tissue RGD PMID:16046292 RGD:1626320 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:11889184 RGD:1626666 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21708048 NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117
JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29273807 NCBI chr12:44,462,579...44,848,555
Ensembl chr12:44,471,038...44,848,308
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540 PMID:15070752 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 CTD Direct Evidence: marker/mechanism CTD PMID:9537324 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
JBrowse link
G Lpin1 lipin 1 ISO RGD PMID:17563064 RGD:1641822 NCBI chr 6:45,039,110...45,145,845
Ensembl chr 6:45,041,522...45,145,991
JBrowse link
G Mc4r melanocortin 4 receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29273807 PMID:29311635 PMID:11443223 PMID:12588803 RGD:1600755, RGD:1600750 NCBI chr18:62,689,798...62,691,685 JBrowse link
G Mchr1 melanin-concentrating hormone receptor 1 onset ISO DNA:SNP:promoter RGD PMID:16186414 RGD:1624359 NCBI chr 7:114,641,721...114,644,913
Ensembl chr 7:114,641,580...114,644,919
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum RGD PMID:17273651 RGD:1642195 NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:15855352 RGD:1642381 NCBI chr 2:170,200,027...170,210,286
Ensembl chr 2:170,200,027...170,210,448
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 onset ISO RGD PMID:16702999 RGD:1626135 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 RGD:1357926 NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:6,129,592...6,176,974
JBrowse link
G Pomc proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Morbid obesity ClinVar PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:150,095,787...150,221,104
JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: OBESITY, SEVERE ClinVar PMID:9769326 PMID:25741868 PMID:28492532 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:164,227,882...164,241,210
JBrowse link
congenital leptin deficiency term browser
Symbol Object Name Qualifiers 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
Leptin Receptor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lepr leptin receptor ISO ClinVar Annotator: match by term: LEPR-related condition OMIM
ClinVar
PMID:9144432 PMID:9860295 PMID:12646666 PMID:15585384 PMID:17229951 More... NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
JBrowse link
Morbid Obesity and Spermatogenic Failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: CEP19-related condition | ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure OMIM
ClinVar
PMID:24268657 PMID:25741868 PMID:28492532 NCBI chr11:82,182,868...82,192,134
Ensembl chr11:82,182,868...82,192,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      nutrition disease 1037
        overnutrition 801
          obesity 801
            morbid obesity 29
              Leptin Receptor Deficiency 1
              Morbid Obesity and Spermatogenic Failure 1
              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
                  Leptin Receptor Deficiency 1
                  Morbid Obesity and Spermatogenic Failure 1
                  congenital leptin deficiency 2
paths to the root