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
Accession: DOID:11981
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 .
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Acss2
acyl-CoA synthetase short-chain family member 2
treatment
ISO
RGD
PMID:22384010
RGD:13831306
NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675
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Adcy3
adenylate cyclase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29311637
NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
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Ager
advanced glycosylation end product-specific receptor
treatment
ISO
RGD
PMID:22828946
RGD:7243249
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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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:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Aqp7
aquaporin 7
ISO
mRNA:decreased expression:subcutaneous adipose tissue
RGD
PMID:17566090
RGD:1626289
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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Bbs4
Bardet-Biedl syndrome 4
susceptibility
ISO
DNA:SNPs
RGD
PMID:17003356
RGD:1601311
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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Bdnf
brain-derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cck
cholecystokinin
ISO
RGD
PMID:17443025
RGD:1625798
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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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 chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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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 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:12883487
RGD:1626305
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ghrl
ghrelin and obestatin prepropeptide
ISO
RGD
PMID:19188925
RGD:2313745
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
mRNA:increased expression:subcutaneous adipose tissue
RGD
PMID:16046292
RGD:1626320
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:11889184
RGD:1626666
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21708048
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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Ksr2
kinase suppressor of ras 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29273807
NCBI chr12:38,802,796...39,187,809
Ensembl chr12:38,802,004...39,188,375
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:9500540 PMID:15070752
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9537324
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lpin1
lipin 1
ISO
RGD
PMID:17563064
RGD:1641822
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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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 chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Mchr1
melanin-concentrating hormone receptor 1
onset
ISO
DNA:SNP:promoter
RGD
PMID:16186414
RGD:1624359
NCBI chr 7:112,761,554...112,764,746
Ensembl chr 7:112,761,554...112,764,032
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Nppb
natriuretic peptide B
ISO
protein:increased expression:serum
RGD
PMID:17273651
RGD:1642195
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Npy2r
neuropeptide Y receptor Y2
ISO
RGD
PMID:15855352
RGD:1642381
NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
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Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
ISO
RGD
PMID:16702999
RGD:1626135
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
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Pomc
proopiomelanocortin
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
ClinVar Annotator: match by term: Morbid obesity
ClinVar
PMID:9753710 PMID:10690291 PMID:25157153 PMID:28492532
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ucp3
uncoupling protein 3
ISO
ClinVar Annotator: match by term: OBESITY, SEVERE
ClinVar
PMID:9769326 PMID:25741868 PMID:28492532
NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762
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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 PMID:15472169 PMID:15937081 PMID:20140086 PMID:25551525 PMID:25741868 PMID:28209183 PMID:28377240 PMID:28492532 PMID:37314706 More...
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
ISO
ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency
ClinVar
PMID:25741868
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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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 PMID:11380591 PMID:11443193 PMID:12006639 PMID:12646666 PMID:15585384 PMID:16284652 PMID:17229951 PMID:17785359 PMID:18212354 PMID:18490929 PMID:18703626 PMID:21393862 PMID:21744741 PMID:22331430 PMID:22810975 PMID:23616257 PMID:24319006 PMID:24611737 PMID:25741868 PMID:25751111 PMID:26094658 PMID:26467025 PMID:28492532 PMID:29970488 PMID:30926952 PMID:31237021 PMID:33221380 PMID:34097736 More...
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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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
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Cep19
centrosomal protein 19
ISO
ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure
OMIM ClinVar
PMID:24268657 PMID:25741868 PMID:28492532
NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
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