MCID: RBS003
MIFTS: 55

Rabson-Mendenhall Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases

Aliases & Classifications for Rabson-Mendenhall Syndrome

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Rabson-Mendenhall Syndrome:

Name: Rabson-Mendenhall Syndrome 52 48 24 25 54 70 12 50 68
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 52 48 24 25
Mendenhall Syndrome 48 25 70
 
Pineal Hyperplasia and Diabetes Mellitus Syndrome 25 27
Rms 25 70

Characteristics:

Orphanet epidemiological data:

54
rabson-mendenhall syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
rabson-mendenhall syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 262190
Orphanet54 ORPHA769
MESH via Orphanet40 D056731
UMLS via Orphanet69 C0271695
ICD10 via Orphanet31 E13
MedGen37 C0271695

Summaries for Rabson-Mendenhall Syndrome

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NIH Rare Diseases:48 Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome may include intrauterine and postnatal growth retardation, hypertrophy of muscle and fat tissues, abnormalities of the head and face, abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans. Additional symptoms may also be present. Rabson-Mendenhall syndrome is inherited in an autosomal recessive manner. Treatment is difficult and may include high doses of insulin and/or recombinant insulin-like growth factor. Last updated: 11/9/2010

MalaCards based summary: Rabson-Mendenhall Syndrome, also known as pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities, is related to rhabdomyosarcoma and large cell carcinoma with rhabdoid phenotype, and has symptoms including long penis, coarse facial features and mandibular prognathia. An important gene associated with Rabson-Mendenhall Syndrome is INSR (Insulin Receptor), and among its related pathways are Signaling events mediated by TCPTP and Insulin Pathway. Affiliated tissues include pineal, skin and pancreas, and related mouse phenotypes are Decreased substrate adherent cell growth and liver/biliary system.

Genetics Home Reference:25 Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with Rabson-Mendenhall syndrome, insulin resistance impairs blood sugar regulation and ultimately leads to a condition called diabetes mellitus, in which blood sugar levels can become dangerously high.

UniProtKB/Swiss-Prot:70 Rabson-Mendenhall syndrome: Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive.

Description from OMIM:52 262190

Related Diseases for Rabson-Mendenhall Syndrome

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Diseases related to Rabson-Mendenhall Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma11.6
2large cell carcinoma with rhabdoid phenotype10.8
3insulin-like growth factor i10.3
4medullary sponge kidney10.3
5hirschsprung disease ganglioneuroblastoma10.3INS, INSR
6glucosidase acid-1,4-alpha deficiency10.2INS, INSR
7anatomical narrow angle borderline glaucoma10.2INS, INSR
8multiple mitochondrial dysfunctions syndrome10.1IGF1, INSR
9hepatitis10.1
10cerebritis10.1
11tracheal calcification10.1INS, INSR
12spinal muscular atrophy type 1 with congenital bone fractures10.1IGF1, IGFBP3
13breast large cell neuroendocrine carcinoma10.1IGF1, IGFBP3
14cetp-related hyperalphalipoproteinemia10.1IGF1, IGFBP3
15thbd-related atypical hemolytic-uremic syndrome10.1IGF1, INS
16rete ovarii cystadenofibroma10.1IGF1, IGFBP3
17growth hormone insensitivity, partial10.1IGF1, IGFBP3
18kartagener syndrome10.1IGF1, INS
19splenic artery aneurysm10.1IGF1, INS
20fallopian tube clear cell adenocarcinoma10.1IGF1, INS
21pleural empyema10.1IGF1, INS
22patellofemoral pain syndrome10.1IGF1, INS
23diabetes insipidus10.1IGF1, INS
24dental pulp necrosis10.0IGF1, INS
25hidradenitis10.0IGF1, INS
26growth retardation hydrocephaly lung hypoplasia10.0IGF1, IGFBP3
27opportunistic mycosis10.0IGF1, INS
28central nervous system hemangioma10.0IGF1, INS
29diencephalic neoplasm10.0IGF1, INS
30embryonal rhabdomyosarcoma10.0
31albinism, oculocutaneous, type ia10.0IGF1, IGFBP3
32diabetic encephalopathy10.0IGF1, INS
33male reproductive organ benign neoplasm10.0IGF1, INS
34congenital hypomyelination neuropathy10.0IGF1, IGFBP3
35cerebellar vermis medulloblastoma10.0IGF1, IGFBP3
36short bowel syndrome10.0IGF1, INS
37septicemic plague10.0IGF1, IGFBP3
38secondary syphilis9.9IGF1R, INSR
39periampullary adenoma9.9IGF1, INS
40alveoli adenoma9.9IGF1, INS
41primary optic atrophy9.9IGF1R, IGFBP3
42pseudopterygium9.9IGF1, INS
43multifocal osteogenic sarcoma9.9IGF1R, IGFBP3
44angiomatous meningioma9.9IGF1, INS
45dysostosis9.9IGF1, IGFBP3
46isthmus cancer9.9INS, INSR
47aromatic l-amino acid decarboxylase deficiency9.9IGF1, IGFBP3
48femoral neuropathy9.8IGF1, INS
49survival motor neuron spinal muscular atrophy9.8IGF1, INS
50lymphedema9.7IGF1, INS

Graphical network of the top 20 diseases related to Rabson-Mendenhall Syndrome:



Diseases related to rabson-mendenhall syndrome

Symptoms & Phenotypes for Rabson-Mendenhall Syndrome

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Symptoms by clinical synopsis from OMIM:

262190

Clinical features from OMIM:

262190

Human phenotypes related to Rabson-Mendenhall Syndrome:

 64 54 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis64 54 hallmark (90%) Very frequent (99-80%) HP:0000040
2 coarse facial features64 54 hallmark (90%) Very frequent (99-80%) HP:0000280
3 mandibular prognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000303
4 diabetes mellitus64 54 hallmark (90%) Very frequent (99-80%) HP:0000819
5 growth hormone excess64 54 hallmark (90%) Very frequent (99-80%) HP:0000845
6 acanthosis nigricans64 54 hallmark (90%) Very frequent (99-80%) HP:0000956
7 abnormality of the fingernails64 hallmark (90%) HP:0001231
8 intrauterine growth retardation64 54 hallmark (90%) Very frequent (99-80%) HP:0001511
9 abnormality of the abdominal wall64 54 hallmark (90%) Very frequent (99-80%) HP:0004298
10 congenital, generalized hypertrichosis64 hallmark (90%) HP:0004540
11 advanced eruption of teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0006288
12 female pseudohermaphroditism64 54 hallmark (90%) Very frequent (99-80%) HP:0010458
13 proteinuria64 54 typical (50%) Frequent (79-30%) HP:0000093
14 abnormality of the thyroid gland64 54 typical (50%) Frequent (79-30%) HP:0000820
15 precocious puberty64 54 typical (50%) Frequent (79-30%) HP:0000826
16 dry skin64 54 typical (50%) Frequent (79-30%) HP:0000958
17 brachydactyly syndrome64 54 typical (50%) Frequent (79-30%) HP:0001156
18 coarse hair64 54 typical (50%) Frequent (79-30%) HP:0002208
19 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
20 prematurely aged appearance64 54 typical (50%) Frequent (79-30%) HP:0007495
21 peripheral neuropathy64 54 typical (50%) Frequent (79-30%) HP:0009830
22 polycystic ovaries64 54 occasional (7.5%) Occasional (29-5%) HP:0000147
23 abnormality of the upper urinary tract64 54 occasional (7.5%) Occasional (29-5%) HP:0010935
24 clitoral hypertrophy64 HP:0000057
25 high palate64 HP:0000218
26 insulin-resistant diabetes mellitus64 HP:0000831
27 hyperinsulinemia64 HP:0000842
28 hypertrichosis64 HP:0000998
29 global developmental delay64 HP:0001263
30 small for gestational age64 HP:0001518
31 hypoglycemia64 HP:0001943
32 diabetic ketoacidosis64 HP:0001953
33 hyperglycemia64 HP:0003074
34 fasting hypoglycemia64 HP:0003162
35 onychauxis64 HP:0012542
36 abnormality of the teeth54 Very frequent (99-80%)
37 thickened skin54 Frequent (79-30%)
38 thick nail54 Very frequent (99-80%)
39 generalized hirsutism54 Very frequent (99-80%)

UMLS symptoms related to Rabson-Mendenhall Syndrome:


dry skin

GenomeRNAi Phenotypes related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-310.0IGF1R, INSR

MGI Mouse Phenotypes related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9IGF1R, IGFBP3, INS, INSR
2MP:00107718.7IGF1, IGF1R, IGFBP3, INS
3MP:00053758.4IGF1, IGF1R, IGFBP3, INS, INSR
4MP:00053798.3IGF1, IGF1R, IGFBP3, INS, INSR
5MP:00053788.3IGF1, IGF1R, IGFBP3, INS, INSR
6MP:00053697.5IGF1, IGF1R, IGFBP3, INS, INSR

Drugs & Therapeutics for Rabson-Mendenhall Syndrome

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Drugs for Rabson-Mendenhall Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZincapprovedPhase 222317440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
2Insulin, Globin ZincPhase 24523
3insulinPhase 24524
4Hypoglycemic AgentsPhase 25733

Interventional clinical trials:

idNameStatusNCT IDPhase
1Leptin to Treat Severe Insulin Resistance - Pilot StudyCompletedNCT00027456Phase 2
2Effect of Leptin Therapy in the Treatment of Severe Insulin ResistanceRecruitingNCT00085982Phase 2

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Genetic Tests for Rabson-Mendenhall Syndrome

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Genetic tests related to Rabson-Mendenhall Syndrome:

id Genetic test Affiliating Genes
1 Pineal Hyperplasia and Diabetes Mellitus Syndrome27
2 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities24 INSR

Anatomical Context for Rabson-Mendenhall Syndrome

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MalaCards organs/tissues related to Rabson-Mendenhall Syndrome:

36
Pineal, Skin, Pancreas, Liver, Ovary, Thyroid, Kidney

Publications for Rabson-Mendenhall Syndrome

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Articles related to Rabson-Mendenhall Syndrome:

(show all 32)
idTitleAuthorsYear
1
Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report. (27112737)
2016
2
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates. (27326825)
2016
3
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. (26691667)
2016
4
Rabson Mendenhall Syndrome caused by a novel missense mutation. (27891155)
2016
5
Rabson-mendenhall syndrome. (25484423)
2014
6
Renal manifestations of severe Rabson-Mendenhall syndrome: a case report. (23497647)
2013
7
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation. (23347304)
2013
8
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence. (22563226)
2012
9
Rabson-Mendenhall syndrome. (23263437)
2012
10
A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. (22876563)
2012
11
Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. (21869538)
2011
12
Rabson-Mendenhall syndrome: two case reports and a brief review of the literature. (20155514)
2010
13
Multidrug therapy in a patient with Rabson-Mendenhall syndrome. (20711714)
2010
14
Long survival in Rabson-Mendenhall syndrome. (20627358)
2010
15
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. (18411068)
2008
16
Fibroepithelial papillomatosis ("skin tags") in Rabson-Mendenhall syndrome. (18405695)
2008
17
Rabson-Mendenhall syndrome. (18717867)
2008
18
Rabson-Mendenhall syndrome: medullary sponge kidney, a new component. (17849153)
2007
19
Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. (17201797)
2007
20
Rabson-Mendenhall syndrome. (15738613)
2005
21
Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. (15070911)
2004
22
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. (15232309)
2004
23
What syndrome is this? Rabson-Mendenhall syndrome. (12047650)
2002
24
Decreased half-life of insulin-like growth factor I in Rabson-Mendenhall syndrome. (11757582)
2001
25
Defective insulin receptors in Rabson-Mendenhall syndrome cause complete peripheral insulin resistance but minimal hepatic insulin response remains. (15016231)
2000
26
Progressive decline in insulin levels in Rabson-Mendenhall syndrome. (10443650)
1999
27
Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. (9212040)
1997
28
Rabson-Mendenhall syndrome]. (7983791)
1994
29
Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. (8077364)
1994
30
An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome. (8270132)
1993
31
Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane. (3721065)
1986
32
Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts. (6339538)
1983

Variations for Rabson-Mendenhall Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Rabson-Mendenhall Syndrome:

70
id Symbol AA change Variation ID SNP ID
1INSRp.Asn42LysVAR_004079rs121913143
2INSRp.His236ArgVAR_004084rs121913145
3INSRp.Ser350LeuVAR_015914
4INSRp.Pro997ThrVAR_015921
5INSRp.Ile1143ThrVAR_015926
6INSRp.Arg1158TrpVAR_015928rs111993466
7INSRp.Arg1201TrpVAR_015930
8INSRp.Gly386SerVAR_031520rs764221583

Clinvar genetic disease variations for Rabson-Mendenhall Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1INSRNM_000208.3(INSR): c.126C> A (p.Asn42Lys)SNVPathogenicrs121913143GRCh37Chr 19, 7267882: 7267882
2INSRNM_000208.3(INSR): c.3079C> T (p.Arg1027Ter)SNVPathogenicrs121913144GRCh37Chr 19, 7125473: 7125473
3INSRNM_000208.3(INSR): c.1124-2A> GSNVPathogenicrs587776819GRCh38Chr 19, 7172436: 7172436
4INSRNM_000208.3(INSR): c.2480_2487delAGGACACC (p.Gln827Profs)deletionPathogenicrs587776820GRCh38Chr 19, 7142871: 7142878
5INSRNM_000208.3(INSR): c.394G> A (p.Gly132Ser)SNVPathogenicrs886037750GRCh37Chr 19, 7267614: 7267614

Expression for genes affiliated with Rabson-Mendenhall Syndrome

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Search GEO for disease gene expression data for Rabson-Mendenhall Syndrome.

Pathways for genes affiliated with Rabson-Mendenhall Syndrome

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Pathways related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

(show all 37)
idSuper pathwaysScoreTop Affiliating Genes
19.5INS, INSR
29.5INS, INSR
39.5INS, INSR
49.5INS, INSR
59.5INS, INSR
6
Show member pathways
9.5INS, INSR
79.5INS, INSR
89.3IGF1, INS
99.3IGF1, IGFBP3
109.2IGF1R, INSR
119.2IGF1R, INSR
129.0IGF1, IGF1R
139.0IGF1, IGF1R
149.0IGF1, IGF1R
159.0IGF1, IGF1R
16
Show member pathways
9.0IGF1, IGF1R
178.9IGF1, INS, INSR
188.8IGF1, IGFBP3, INS
19
Show member pathways
8.7IGF1R, INS, INSR
208.6IGF1, IGF1R, INSR
21
Show member pathways
8.6IGF1, IGF1R, INSR
22
Show member pathways
8.6IGF1, IGF1R, INSR
23
Show member pathways
8.5IGF1, IGF1R, INS
24
Show member pathways
8.5IGF1, IGF1R, INS
258.5IGF1, IGF1R, IGFBP3
26
Show member pathways
8.5IGF1, IGF1R, IGFBP3
278.2IGF1R, IGFBP3, INS, INSR
288.1IGF1, IGF1R, INS, INSR
29
Show member pathways
8.1IGF1, IGF1R, INS, INSR
30
Show member pathways
8.1IGF1, IGF1R, INS, INSR
31
Show member pathways
8.1IGF1, IGF1R, INS, INSR
328.1IGF1, IGF1R, INS, INSR
33
Show member pathways
8.1IGF1, IGF1R, INS, INSR
348.1IGF1, IGF1R, INS, INSR
35
Show member pathways
8.1IGF1, IGF1R, INS, INSR
368.0IGF1, IGF1R, IGFBP3, INS
37
Show member pathways
7.5IGF1, IGF1R, IGFBP3, INS, INSR

GO Terms for genes affiliated with Rabson-Mendenhall Syndrome

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Cellular components related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:00169429.4IGF1, IGFBP3
2insulin-like growth factor ternary complexGO:00425679.3IGF1, IGFBP3
3alphav-beta3 integrin-IGF-1-IGF1R complexGO:00358679.2IGF1, IGF1R

Biological processes related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein phosphorylationGO:000193310.2IGFBP3, INSR
2positive regulation of nitric oxide biosynthetic processGO:004542910.1INS, INSR
3cellular response to insulin stimulusGO:003286910.1IGF1, INSR
4positive regulation of glycoprotein biosynthetic processGO:001056010.1IGF1, INSR
5positive regulation of protein kinase B signalingGO:005189710.0INS, INSR
6positive regulation of respiratory burstGO:006026710.0INS, INSR
7positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.0IGF1, IGFBP3
8positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.9IGF1, INS
9positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.9IGF1, INS
10peptidyl-tyrosine autophosphorylationGO:00380839.9IGF1R, INSR
11response to activityGO:00148239.9IGF1, INSR
12insulin-like growth factor receptor signaling pathwayGO:00480099.8IGF1, IGF1R
13phosphatidylinositol 3-kinase signalingGO:00140659.7IGF1, IGF1R
14activation of protein kinase B activityGO:00321489.6IGF1, INS, INSR
15cellular protein metabolic processGO:00442679.5IGF1, IGFBP3, INS
16positive regulation of glucose importGO:00463269.5IGF1, INS, INSR
17positive regulation of glycogen biosynthetic processGO:00457259.5IGF1, INS, INSR
18positive regulation of glycolytic processGO:00458219.5IGF1, INS, INSR
19positive regulation of mitotic nuclear divisionGO:00458409.5IGF1, INS, INSR
20insulin receptor signaling pathwayGO:00082869.4IGF1R, INS, INSR
21response to glucocorticoidGO:00513849.4IGF1, INSR
22positive regulation of MAPK cascadeGO:00434109.0IGF1, IGFBP3, INS, INSR
23positive regulation of cell migrationGO:00303358.8IGF1, IGF1R, INS, INSR
24positive regulation of cell proliferationGO:00082848.7IGF1, IGF1R, INS, INSR
25positive regulation of DNA replicationGO:00457408.7IGF1, IGF1R, INS, INSR

Molecular functions related to Rabson-Mendenhall Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor II bindingGO:00319959.9IGFBP3, INSR
2hormone activityGO:00051799.9IGF1, INS
3insulin bindingGO:00435599.7IGF1R, INSR
4insulin receptor substrate bindingGO:00435609.7IGF1R, INSR
5insulin-like growth factor bindingGO:00055209.6IGF1R, IGFBP3
6insulin-like growth factor receptor bindingGO:00051599.2IGF1, INS, INSR
7phosphatidylinositol 3-kinase bindingGO:00435489.2IGF1R, INSR
8insulin-like growth factor I bindingGO:00319949.1IGF1R, IGFBP3, INSR
9insulin receptor bindingGO:00051589.0IGF1, IGF1R, INS

Sources for Rabson-Mendenhall Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet