MCID: TRC032
MIFTS: 70

Turcot Syndrome malady

Neuronal diseases, Gastrointestinal diseases, Cancer diseases, Genetic diseases categories

Summaries for Turcot Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. it may be associated with familial adenomatous polyposis (fap) or lynch syndrome (also known as hereditary non-polyposis colorectal cancer or hnpcc). the molecular basis of most turcot syndrome is either a mutation in apc associated with fap or a mutation in one of the mismatch repair genes associated with lynch syndrome (mlh1 and pms2). the brain tumors in individuals with apc mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme. turcot syndrome typically follows an autosomal dominant inheritance pattern. last updated: 8/29/2012

MalaCards: Turcot Syndrome, also known as mismatch repair cancer syndrome, is related to familial adenomatous polyposis and rhabdomyosarcoma, and has symptoms including pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer, ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma) and execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia. An important gene associated with Turcot Syndrome is PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae)), and among its related pathways are Glioma and Doxorubicin Pathway, Pharmacokinetics. The compounds pge2 and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and skin, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

Wikipedia:63 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Description from OMIM:46 276300

Aliases & Classifications for Turcot Syndrome

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
constitutional mismatch repair deficiency syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

turcot syndrome 42 20 22 44 60
mismatch repair cancer syndrome 42 46
malignant tumors of the central nervous system associated with familial polyposis of the colon 42
constitutional mismatch repair deficiency syndrome 48
cns tumors with familial polyposis of the colon 42
brain tumor-polyposis syndrome 42
non-polyposis turcot syndrome 48
glioma-polyposis syndrome 42
cmmr-d syndrome 48


External Ids:

OMIM46 276300
ICD10 via Orphanet26 C18

Related Diseases for Turcot Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Turcot Syndrome family:

Mlh1-Related Turcot Syndrome Msh2-Related Turcot Syndrome
Msh6-Related Turcot Syndrome Pms2-Related Turcot Syndrome

Diseases related to Turcot Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1familial adenomatous polyposis30.5TGFBR2, TP53, MSH2, MSH6, CTNNB1, APC
2rhabdomyosarcoma30.5TP53
3neurofibromatosis30.4MSH2, MSH6, MLH1, PMS2
4astrocytoma30.4MLH1, MSH2, PTEN, TP53, GAPDH
5medulloblastoma30.3TP53, CTNNB1, APC, PTCH2
6glioblastoma multiforme30.2TP53, BAX, MSH2, PTEN
7giant cell glioblastoma30.0PTEN
8muir-torre syndrome30.0MLH1, MSH6, MSH2
9colon adenocarcinoma30.0MLH1, BAX, CTNNB1
10colon cancer29.9CTNNB1, TGFBR2, TP53, APC, IGF2R, BAX
11adenocarcinoma29.9APC, TGFBR2, TP53, MSH2, MSH6, BAX
12adenoma29.9CTNNB1, GAPDH, MLH1, IGF2R, BAX, MSH6
13colorectal cancer29.9PMS1, PMS2, APC, CTNNB1, GAPDH, MLH1
14brain tumor-polyposis syndrome 210.4
15glioma somatic10.2
16mlh1-related turcot syndrome10.2
17msh2-related turcot syndrome10.2
18msh6-related turcot syndrome10.2
19pms2-related turcot syndrome10.2
20brain disease10.2
21ovarian endometrioid neoplasm10.0
22ganglioglioma10.0
23adult syndrome10.0
24exostosis10.0
25intestinal obstruction10.0
26pineoblastoma10.0
27retinitis10.0
28fanconi's anemia10.0MLH1
29werner syndrome10.0MLH1
30endometriosis10.0PTEN
31cervical squamous cell carcinoma10.0MLH1
32neuroblastoma10.0TP53
33hepatitis b10.0IGF2R
34gemistocytic astrocytoma10.0PTEN
35hepatitis10.0IGF2R
36kidney cancer10.0TP53
37leiomyosarcoma10.0TP53
38stomach cancer10.0TP53
39cholangiocarcinoma10.0TP53
40ductal carcinoma in situ10.0TP53
41laryngeal benign neoplasm10.0TP53
42myeloid leukemia10.0BAX
43small intestine cancer10.0MSH6, MLH1
44ulcerative colitis10.0TP53
45herpes simplex10.0IGF2R
46wilms tumor10.0PMS2, CTNNB1
47beckwith-wiedemann syndrome10.0IGF2R
48hepatoblastoma10.0APC, CTNNB1
49juvenile polyposis syndrome10.0PTEN, APC
50gliomatosis cerebri10.0PTEN

Graphical network of the top 20 diseases related to Turcot Syndrome:



Diseases related to turcot syndrome

Clinical Features for Turcot Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

276300

Clinical synopsis from OMIM:

276300

Symptoms:

48 (show all 55)
  • pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • alexia/agraphia/writing/reading troubles
  • benign tumor of the brain/nervous system
  • skin tumors/lumps/epidermal cysts
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • sarcoma
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • colon neoplasm/tumor/carcinoma/cancer
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • rectum/rectal neoplasm/tumor/carcinoma/cancer
  • visual/auditory/tactile agnosia/propopagnosia/simultagnosia
  • neuroblastoma
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • thyroid neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • glial tumor/glioblastoma
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • polyposis of the bowel/colon/intestine
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • intestinal transit disorder
  • psychic/behavioural troubles
  • psychic/psychomotor regression/dementia/intellectual decline
  • hypotonia
  • autosomal dominant inheritance
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • elocution disorders/dysarthria/dysphonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • abnormal gait
  • constipation
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypertonia/spasticity/rigidity/stiffness
  • pyramidal syndrome
  • motor deficit/trouble
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • cranial hypertension
  • delirium/hallucination
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • transient amaurosis/acute visual trouble
  • early death in adulthood
  • facial pain/cephalalgia/migraine
  • hyperactivity/attention deficit
  • troubles of memory/amnesia/hypermnesia
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • acute abdominal pain/colic
  • death in infancy
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • visual loss/blindness/amblyopia
  • malabsorption/chronic diarrhea/steatorrhea
  • autosomal recessive inheritance

Drugs & Therapeutics for Turcot Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Turcot Syndrome

Drug clinical trials:

Search ClinicalTrials for Turcot Syndrome

Search NIH Clinical Center for Turcot Syndrome

Search CenterWatch for Turcot Syndrome

Genetic Tests for Turcot Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Turcot Syndrome:

id Genetic test Affiliating Genes
1 Turcot Syndrome20 22 PMS2

Anatomical Context for Turcot Syndrome

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32MalaCards
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MalaCards organs/tissues related to Turcot Syndrome:

32
Colon, Brain, Skin, Cervix, Ovary, Bone, Liver, Uterus, Thyroid, Pituitary, Pancreas

Animal Models for Turcot Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Turcot Syndrome:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.4APC
2MP:000537110.2IGF2R
3MP:00053919.9APC
4MP:00053769.3PMS2, GAPDH, IGF2R, MSH6
5MP:00053799.2MLH1, PMS2, TP53, BAX
6MP:00036319.0APC, PTCH2, BAX, IGF2R
7MP:00107718.8PTCH2, CTNNB1, TP53, APC, PTEN
8MP:00053698.5TGFBR2, TP53, BAX, APC, PTCH2
9MP:00053828.1TGFBR2, TP53, IGF2R, CTNNB1, APC, PTEN
10MP:00053898.1APC, PTCH2, TP53, PTEN, MLH1, BAX
11MP:00053707.8CTNNB1, IGF2R, APC, PTEN, TP53, TGFBR2
12MP:00053817.7APC, CTNNB1, MLH1, PTEN, PTCH2, TP53
13MP:00053887.7CTNNB1, IGF2R, BAX, PTEN, TP53, TGFBR2
14MP:00028737.7APC, CTNNB1, IGF2R, PTEN, PTCH2, TP53
15MP:00053907.6CTNNB1, TGFBR2, TP53, PTEN, BAX, IGF2R
16MP:00053877.3BAX, PMS2, CTNNB1, PTEN, MSH2, PTCH2
17MP:00053857.3IGF2R, PTEN, PTCH2, TP53, CTNNB1, APC
18MP:00020067.2PTCH2, TGFBR2, TP53, PTEN, MSH2, MSH6
19MP:00053787.0TGFBR2, PTEN, BAX, IGF2R, GAPDH, CTNNB1
20MP:00053846.8TP53, IGF2R, MLH1, CTNNB1, APC, PMS2
21MP:00053976.5PTCH2, TGFBR2, CTNNB1, APC, PMS2, IGF2R
22MP:00107686.3PMS2, APC, GAPDH, MLH1, IGF2R, BAX

Publications for Turcot Syndrome

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Genetic Variations for Turcot Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Turcot Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MLH1p.Met35AsnVAR_043388
2PMS2p.Ser46IleVAR_066838

Expression for genes affiliated with Turcot Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Turcot Syndrome

Search GEO for disease gene expression data for Turcot Syndrome.

Pathways for genes affiliated with Turcot Syndrome

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Sources:
29KEGG, 37NCBI BioSystems Database, 49PharmGKB, 4Cell Signaling Technology, 53Reactome, 51QIAGEN, 12EMD Millipore, 52R&D Systems, 59Tocris Bioscience
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Pathways related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6TP53, MSH6
2
Hide members
9.6MSH2, TP53
39.5PTCH2, CTNNB1, APC
4
Hide members
9.4MSH2, MLH1, PMS2, PMS1
5
Transcription Androgen Receptor nuclear signaling
Hide members
9.4CTNNB1, PTEN, TGFBR2
69.3TP53, BAX
79.3TP53, MSH2, MSH6
8
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
9.1MLH1, MSH6, MSH2, TP53
99.1IGF2R, PTEN, TP53
109.0APC, BAX, MSH6, TGFBR2
11
Hide members
9.0TP53, PTEN, BAX
12
Hide members
9.0TP53, PTEN, BAX
138.9APC, CTNNB1, PTEN, TP53
14
Hide members
8.9TP53, PTCH2, CTNNB1, APC
158.8PMS2, APC, BAX, TP53
168.8TP53, BAX, GAPDH
17
Hide members
8.8TGFBR2, BAX, IGF2R, CTNNB1
18
Hide members
8.5BAX, MSH6, MSH2, PTEN, TP53
19
Hide members
8.4CTNNB1, IGF2R, BAX, PTEN, TGFBR2
20
Hide members
8.4APC, CTNNB1, BAX, PTEN, TP53
21
Hide members
8.4APC, CTNNB1, BAX, PTEN, TP53
228.4APC, CTNNB1, BAX, PTEN, TP53
238.3TGFBR2, TP53, BAX, CTNNB1, APC
248.0PMS2, APC, MLH1, BAX, MSH2, PTEN
257.7CTNNB1, BAX, MSH6, MSH2, PTEN, TP53
26
Hide members
7.6APC, CTNNB1, MLH1, BAX, MSH6, MSH2
27
Hide members
7.1APC, CTNNB1, IGF2R, BAX, PTEN, PTCH2
286.8TGFBR2, APC, CTNNB1, MLH1, BAX, MSH6

Compounds for genes affiliated with Turcot Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR
See all sources

Compounds related to Turcot Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1pge24410.2PTEN
2methylazoxymethanol acetate4410.2APC, CTNNB1
31-hydroxyanthraquinone4410.2APC, CTNNB1
4mhs-24410.1PMS2, PMS1, MLH1
5guanine44 11 2412.0IGF2R
6mnng4410.0MSH2, MLH1, APC
7sodium bisulfite4410.0CTNNB1, APC, MLH1
8serine449.8IGF2R, MSH2, APC
9n-methyl-n-nitrosourea449.8CTNNB1, MLH1, MSH6, MSH2
106 thioguanine449.8MSH2, GAPDH, MLH1
11samp449.8CTNNB1, APC
12exisulind449.7CTNNB1, BAX, APC
135-methylcytosine44 2410.7TP53, MLH1, APC
14temozolomide44 1110.6MLH1, MSH2, TP53
15bbr3464449.6TP53, BAX
16h2o2449.6CTNNB1, GAPDH, PTEN
17ly294002449.5CTNNB1, GAPDH, BAX
18eb 108944 5910.4BAX, PTEN, TGFBR2
19o6-methylguanine449.2MLH1, MSH6, MSH2, APC, TP53
20noxa449.2TP53, BAX, PTEN
21adenine44 11 2411.1APC, GAPDH, MLH1, MSH2, TGFBR2
22indole-3-carbinol449.1BAX, PTEN, TP53, CTNNB1
23glycerol44 11 2411.0MLH1, TGFBR2, CTNNB1, GAPDH
24agarose449.0GAPDH, TGFBR2, BAX, MLH1
25sulindac44 119.9TP53, MLH1, CTNNB1, APC, BAX
26curcumin448.9CTNNB1, TP53, APC, BAX
27arsenite44 249.8GAPDH, TP53, PTEN, BAX
28adpribose448.8BAX, GAPDH, CTNNB1, TP53
29paclitaxel44 49 1110.7BAX, CTNNB1, TP53, PTEN, MLH1
30thymidylate448.7MLH1, TP53, GAPDH, MSH2, BAX
31biotin44 11 2410.7MSH2, PMS2, MSH6, TGFBR2, CTNNB1, GAPDH
32gemcitabine44 49 1110.6BAX, GAPDH, MLH1, PTEN, TP53
33n-(4-hydroxyphenyl)retinamide448.6TGFBR2, BAX, TP53
34mg 13244 599.5CTNNB1, GAPDH, TP53, PTEN, BAX
35threonine448.5APC, PTEN, TGFBR2, MSH6, IGF2R, MLH1
36wortmannin448.5PTEN, TGFBR2, APC, CTNNB1, IGF2R, BAX
37alanine448.4GAPDH, CTNNB1, MSH2, PTEN, MLH1, TGFBR2
38arginine448.4TP53, PTEN, CTNNB1, MSH2, MLH1, IGF2R
395-aza-2deoxycytidine448.4TP53, PTEN, TGFBR2, MLH1, CTNNB1, PMS1
40doxorubicin44 49 1110.3MSH2, TP53, PTEN, MSH6, BAX, MLH1
41oligonucleotide448.2TP53, TGFBR2, PTEN, CTNNB1, APC, GAPDH
42progesterone44 59 28 11 2412.2TP53, TGFBR2, IGF2R, PTEN, APC, CTNNB1
43mononucleotide448.1TGFBR2, PTEN, MSH2, MSH6, BAX, IGF2R
44tamoxifen44 49 28 1111.1CTNNB1, TGFBR2, TP53, PTEN, GAPDH, BAX
455fluorouracil448.1MSH2, PTEN, TP53, MLH1, GAPDH, CTNNB1
46crcs447.9TGFBR2, TP53, PTEN, MSH6, CTNNB1, MLH1
47paraffin447.8PMS2, MSH6, TP53, CTNNB1, APC, MLH1
48cisplatin44 49 59 1110.8MSH6, MSH2, MLH1, GAPDH, CTNNB1, PTEN
49vegf447.5TGFBR2, CTNNB1, GAPDH, MLH1, IGF2R, BAX
50retinoic acid44 248.2TP53, PTEN, TGFBR2, BAX, IGF2R, MLH1

GO Terms for genes affiliated with Turcot Syndrome

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16Gene Ontology
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Cellular components related to Turcot Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:03230110.0MSH6, MSH2
2mismatch repair complexGO:0323009.8MLH1, PMS2, PMS1
3MutLalpha complexGO:0323899.8MLH1, PMS2, PMS1
4beta-catenin destruction complexGO:0308779.6APC, CTNNB1
5cytosolGO:0058296.5APC, CTNNB1, GAPDH, IARS, BAX, PTEN
6nucleusGO:0056346.3PMS2, APC, CTNNB1, GAPDH, MLH1, IARS

Biological processes related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00071010.2MSH2, MSH6
2positive regulation of helicase activityGO:05109610.2MSH6, MSH2
3maintenance of DNA repeat elementsGO:04357010.2MSH6, MSH2
4negative regulation of DNA recombinationGO:04591010.2MSH6, MSH2
5somatic recombination of immunoglobulin gene segmentsGO:01644710.1MSH2, MSH6, PMS2
6trachea formationGO:06044010.0TGFBR2, CTNNB1
7isotype switchingGO:04519010.0MLH1, MSH6, MSH2
8somatic hypermutation of immunoglobulin genesGO:0164469.8PMS2, MLH1, MSH6, MSH2
9reciprocal meiotic recombinationGO:0071319.8PMS1, PMS2, MLH1, MSH6
10ATP catabolic processGO:0062009.8MSH6, MLH1, PMS2, PMS1
11canonical Wnt receptor signaling pathwayGO:0600709.7PTEN, CTNNB1, APC
12determination of adult lifespanGO:0083409.7MSH6, MSH2, TP53
13response to X-rayGO:0101659.6TP53, MSH2
14T cell differentiation in thymusGO:0330779.6APC, CTNNB1, TP53
15mismatch repairGO:0062989.5MSH2, MSH6, MLH1, PMS2, PMS1
16positive regulation of protein oligomerizationGO:0324619.4BAX, TP53
17intrinsic apoptotic signaling pathwayGO:0971939.3BAX, MSH6, TP53
18response to salt stressGO:0096519.3TP53, BAX
19neuron apoptotic processGO:0514029.1GAPDH, BAX, TP53
20in utero embryonic developmentGO:0017019.1TGFBR2, TP53, MSH2, CTNNB1
21cell cycle arrestGO:0070509.0TP53, MSH2, APC
22positive regulation of apoptotic processGO:0430658.9TP53, BAX, CTNNB1, APC
23negative regulation of cell proliferationGO:0082858.8APC, CTNNB1, PTEN, TP53
24apoptotic processGO:0069158.7APC, CTNNB1, BAX, PTEN, TGFBR2

Molecular functions related to Turcot Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:03214310.1MSH6, MSH2
2single guanine insertion bindingGO:03214210.1MSH2, MSH6
3oxidized purine DNA bindingGO:03235710.0MSH2, MSH6
4guanine/thymine mispair bindingGO:03213710.0MSH2, MSH6, MLH1
5MutSalpha complex bindingGO:03240710.0MLH1, PMS2, PMS1
6four-way junction DNA bindingGO:00040010.0MSH2, MSH6
7mismatched DNA bindingGO:0309839.9PMS1, MSH6, MSH2
8MutLalpha complex bindingGO:0324059.9MSH6, MSH2
9single-stranded DNA bindingGO:0036979.7PMS1, PMS2, MLH1, MSH2
10double-stranded DNA bindingGO:0036909.6MSH2, MSH6, CTNNB1
11ATPase activityGO:0168879.5PMS1, PMS2, MLH1, MSH6, MSH2
12protein kinase bindingGO:0199018.8APC, CTNNB1, MSH2, PTEN, TP53
13enzyme bindingGO:0198998.6TP53, PTEN, MSH2, CTNNB1
14ATP bindingGO:0055247.5PMS1, PMS2, MLH1, IARS, MSH6, MSH2
15protein bindingGO:0055155.4PMS2, APC, CTNNB1, GAPDH, MLH1, IARS

Products for genes affiliated with Turcot Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Turcot Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet