MCID: PTN006
MIFTS: 34

Pten Hamartoma Tumor Syndrome malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Pten Hamartoma Tumor Syndrome

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Aliases & Descriptions for Pten Hamartoma Tumor Syndrome:

Name: Pten Hamartoma Tumor Syndrome 21 45 22 24 65
 
Phts 45

Classifications:



External Ids:

UMLS65 C1959582

Summaries for Pten Hamartoma Tumor Syndrome

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NIH Rare Diseases:45 Pten hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. these conditions include: cowden syndrome - associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. affected people may also have macrocephaly and characteristic skin abnormalities. bannayan-riley-ruvalcaba syndrome - characterized by macrocephaly (large head size), hamartomas of the intestines (called hamartomatous intestinal polyps), and dark freckles on the penis. proteus syndrome - characterized by overgrowth of the bones, skin, and other tissues. proteus-like syndrome - people with many of the signs and symptoms associated with proteus syndrome, but who do not meet the diagnostic criteria. pten hamartoma tumor syndrome is caused by changes (mutations) in the pten gene and is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 10/4/2015

MalaCards based summary: Pten Hamartoma Tumor Syndrome, also known as phts, is related to cowden syndrome 1 and bannayan-riley-ruvalcaba syndrome, and has symptoms including macrocephaly, arteriovenous malformation and intestinal polyposis. An important gene associated with Pten Hamartoma Tumor Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are Translation Insulin regulation of translation and Glioblastoma Multiforme. Affiliated tissues include thyroid, bone and breast, and related mouse phenotype tumorigenesis.

GeneReviews summary for NBK1488

Related Diseases for Pten Hamartoma Tumor Syndrome

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Graphical network of diseases related to Pten Hamartoma Tumor Syndrome:



Diseases related to pten hamartoma tumor syndrome

Symptoms for Pten Hamartoma Tumor Syndrome

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HPO human phenotypes related to Pten Hamartoma Tumor Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 arteriovenous malformation hallmark (90%) HP:0100026
3 intestinal polyposis hallmark (90%) HP:0200008
4 abnormality of the penis typical (50%) HP:0000036
5 hyperkeratosis typical (50%) HP:0000962
6 hypermelanotic macule typical (50%) HP:0001034
7 subcutaneous hemorrhage typical (50%) HP:0001933
8 renal neoplasm typical (50%) HP:0009726
9 uterine neoplasm typical (50%) HP:0010784
10 neoplasm of the thyroid gland typical (50%) HP:0100031
11 optic atrophy occasional (7.5%) HP:0000648
12 neoplasm of the colon occasional (7.5%) HP:0100273
13 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Pten Hamartoma Tumor Syndrome

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Drugs for Pten Hamartoma Tumor Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 2302622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Sirolimusapproved, investigationalPhase 2179753123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
EverolimusapprovedPhase 21797159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
Afinitor Disperz
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
VOTUBIA
Zortress
everolimus
4Immunosuppressive AgentsPhase 210422
5RadiopharmaceuticalsPhase 2362
6Immunologic FactorsPhase 218483
7Fluorodeoxyglucose F18Phase 2356
8Antibiotics, AntitubercularPhase 25971
9Antifungal AgentsPhase 23015
10Anti-Infective AgentsPhase 217220
11Anti-Bacterial AgentsPhase 29140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor SyndromesCompletedNCT00971789Phase 2
2Natural History Study of Individuals With Autism and Germline Heterozygous PTEN MutationsRecruitingNCT02461446

Search NIH Clinical Center for Pten Hamartoma Tumor Syndrome

Genetic Tests for Pten Hamartoma Tumor Syndrome

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Genetic tests related to Pten Hamartoma Tumor Syndrome:

id Genetic test Affiliating Genes
1 Pten Hamartoma Tumor Syndrome (phts)22 PTEN

Anatomical Context for Pten Hamartoma Tumor Syndrome

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MalaCards organs/tissues related to Pten Hamartoma Tumor Syndrome:

33
Thyroid, Bone, Breast, Skin, Uterus, Colon, Pituitary

Animal Models for Pten Hamartoma Tumor Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pten Hamartoma Tumor Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1NF2, PTEN

Publications for Pten Hamartoma Tumor Syndrome

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Articles related to Pten Hamartoma Tumor Syndrome:

(show all 30)
idTitleAuthorsYear
1
Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect-PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome. (26975628)
2016
2
Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. (27033071)
2016
3
Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. (26185318)
2015
4
ACG Guidelines on Management of PTEN-Hamartoma Tumor Syndrome: Does the Evidence Support so Much so Young? (26673503)
2015
5
PTEN hamartoma tumor syndrome: Clinical risk assessment and management protocol. (25461771)
2015
6
PTEN hamartoma tumor syndrome. (26564076)
2015
7
Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. (24587660)
2014
8
RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. (24899679)
2014
9
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. (24123798)
2013
10
Spatially distinct roles of class Ia PI3K isoforms in the development and maintenance of PTEN hamartoma tumor syndrome. (23873941)
2013
11
Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. (24136893)
2013
12
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. (23934601)
2013
13
AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development. (24270425)
2013
14
Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies. (24366516)
2013
15
Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes. (24136892)
2013
16
The gene dosage of class Ia PI3K dictates the development of PTEN hamartoma tumor syndrome. (24131925)
2013
17
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. (22266152)
2012
18
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. (22628360)
2012
19
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. (22281088)
2012
20
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. (22381246)
2012
21
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. (22595938)
2012
22
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. (20962022)
2011
23
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. (21190448)
2011
24
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. (20349131)
2010
25
PTEN hamartoma tumor syndrome: an overview. (19668082)
2009
26
PTEN hamartoma tumor syndromes. (18781191)
2008
27
Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. (17941496)
2007
28
Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. (16702501)
2006
29
CASE 4. Fibrocystic breast disease in a 16-year-old female with PTEN hamartoma tumor syndrome. (16421431)
2006
30
PTEN Hamartoma Tumor Syndrome (PHTS) (20301661)
1993

Variations for Pten Hamartoma Tumor Syndrome

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Clinvar genetic disease variations for Pten Hamartoma Tumor Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1PTENNM_000314.6(PTEN): c.338G> T (p.Ser113Ile)single nucleotide variantPathogenicrs587781254GRCh37Chr 10, 89692854: 89692854
2PTENNM_000314.6(PTEN): c.379G> A (p.Gly127Arg)single nucleotide variantPathogenicrs587781255GRCh37Chr 10, 89692895: 89692895
3PTENNM_000314.6(PTEN): c.781C> T (p.Gln261Ter)single nucleotide variantPathogenicrs730882131GRCh38Chr 10, 87957999: 87957999
4PTENNM_000314.6(PTEN): c.49C> T (p.Gln17Ter)single nucleotide variantPathogenicrs786204910GRCh37Chr 10, 89624275: 89624275
5PTENNM_000314.6(PTEN): c.437T> G (p.Leu146Ter)single nucleotide variantPathogenicrs786204933GRCh38Chr 10, 87933196: 87933196
6PTENNM_000314.6(PTEN): c.987_996dupTAAAGACAAA (p.Ala333Terfs)duplicationPathogenicrs864622387GRCh38Chr 10, 87961079: 87961088
7PTENNM_000314.6(PTEN): c.845delG (p.Gly282Aspfs)deletionPathogenicrs864622451GRCh38Chr 10, 87960937: 87960937
8PTENNM_000314.6(PTEN): c.697C> T (p.Arg233Ter)single nucleotide variantPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
9PTENNM_000314.6(PTEN): c.388C> T (p.Arg130Ter)single nucleotide variantPathogenicrs121909224GRCh37Chr 10, 89692904: 89692904
10PTENNM_000314.6(PTEN): c.389G> A (p.Arg130Gln)single nucleotide variantPathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
11PTENNM_000314.6(PTEN): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicrs121909231GRCh37Chr 10, 89720852: 89720852
12PTENNM_000314.6(PTEN): c.507delC (p.Ser170Valfs)deletionPathogenicrs587776673GRCh37Chr 10, 89711889: 89711889
13PTENNM_000314.6(PTEN): c.395G> T (p.Gly132Val)single nucleotide variantPathogenicrs121909241GRCh37Chr 10, 89692911: 89692911

Expression for genes affiliated with Pten Hamartoma Tumor Syndrome

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Search GEO for disease gene expression data for Pten Hamartoma Tumor Syndrome.

Pathways for genes affiliated with Pten Hamartoma Tumor Syndrome

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GO Terms for genes affiliated with Pten Hamartoma Tumor Syndrome

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Biological processes related to Pten Hamartoma Tumor Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell migrationGO:00303369.1NF2, PTEN

Sources for Pten Hamartoma Tumor Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet