MCID: MNK003
MIFTS: 63

Muenke Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Muenke Syndrome

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NIH Rare Diseases:42 Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. this affects the shape of the head and face. other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. muenke syndrome is caused by mutations in the fgfr3 gene. it is inherited in an autosomal dominant pattern.   last updated: 10/3/2011

MalaCards based summary: Muenke Syndrome, also known as muenke nonsyndromic coronal craniosynostosis, is related to osteochondroma and craniosynostosis, and has symptoms including autosomal dominant inheritance, plagiocephaly and brachycephaly/flat occiput. An important gene associated with Muenke Syndrome is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Endochondral Ossification and Signaling by FGFR3 mutants. The compounds thalidomide and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and temporal lobe, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Genetics Home Reference:21 Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.

Wikipedia:65 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

Description from OMIM:46 602849

GeneReviews summary for muenke

Aliases & Classifications for Muenke Syndrome

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Sources:
65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Muenke Syndrome, Aliases & Descriptions:

Name: Muenke Syndrome 65 19 42 20 22 21 46 44 48
Muenke Nonsyndromic Coronal Craniosynostosis 42 21
Fgfr3-Associated Coronal Synostosis 65 21
 
Craniosynostosis, Adelaide Type 46 62
Syndrome of Coronal Craniosynostosis 42
Adelaide-Type Craniosynostosis 65


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


External Ids:

OMIM46 602849
MESH via Orphanet35 C537369
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C1864436

Related Diseases for Muenke Syndrome

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma31.0FGFR3
2craniosynostosis30.1FGFR1, FGFR2, TWIST1, FGFR3
3hypochondroplasia29.9FGFR1, FGFR2, FGFR3
4synostosis29.5FGFR2, FGFR1, FGFR3, TWIST1
5osteoglophonic dysplasia10.4FGFR1
6fgfr3-related craniosynostosis10.3
7brachydactyly10.3
8beare-stevenson cutis gyrata syndrome10.3FGFR2
9antley-bixler syndrome10.3FGFR2
10hypertension10.1
11intracranial hypertension10.1
12hemimegalencephaly10.1
13nasodigitoacoustic syndrome10.1
14achondroplasia10.1FGFR2, FGFR3
15ladd syndrome10.1FGFR3, FGFR2
16strabismus10.1FGFR3, FGFR2
17thanatophoric dysplasia10.1FGFR2, FGFR3
18nasopharynx carcinoma10.1FGFR1, TWIST1
19acanthosis nigricans10.1FGFR2, FGFR3
20syndactyly10.0FGFR2, FGFR3
21infectious mononucleosis10.0FGFR2, FGFR1
22transitional cell carcinoma10.0FGFR3, FGFR2
23bladder carcinoma9.9FGFR3, FGFR2
24skin disease9.9FGFR3, FGFR2
25embryonal cancer9.8FGFR2, FGFR1
26crouzon syndrome9.8FGFR2, FGFR3, FGFR1
27fgfr-related craniosynostosis syndromes9.8FGFR2, FGFR3, FGFR1
28jackson-weiss syndrome9.8FGFR2, FGFR1, FGFR3
29acrocephalosyndactylia9.8FGFR1, FGFR3, FGFR2
30skeletal dysplasia multi-gene panels9.8FGFR2, FGFR1, FGFR3
31dwarfism9.8FGFR2, FGFR3, FGFR1
32developmental disabilities9.8FGFR3, FGFR1, FGFR2
33chondrosarcoma9.8FGFR1, FGFR3, FGFR2
34stomach cancer9.8TWIST1, FGFR3, FGFR2
35cleft palate9.8FGFR1, FGFR2, TWIST1
36tongue squamous cell carcinoma9.7FGFR2, FGFR3, TWIST1
37pancreatic cancer9.7FGFR1, FGFR2, TWIST1
38colorectal cancer9.7FGFR3, FGFR1, FGFR2
39breast cancer9.7TWIST1, FGFR1, FGFR2
40liver cancer9.7TWIST1, FGFR2, FGFR1
41saethre-chotzen syndrome9.6TWIST1, FGFR2, FGFR1, FGFR3
42melanoma9.6FGFR3, FGFR1, FGFR2
43prostate cancer9.6FGFR1, TWIST1, FGFR3, FGFR2
44leukemia9.5FGFR2, FGFR3, FGFR1

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



Diseases related to muenke syndrome

Symptoms for Muenke Syndrome

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Symptoms by clinical synopsis from OMIM:

602849

Clinical features from OMIM:

602849

Symptoms:

48 (show all 18)
  • autosomal dominant inheritance
  • plagiocephaly
  • brachycephaly/flat occiput
  • hypertelorism
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • ptosis
  • high vaulted/narrow palate
  • sensorineural deafness/hearing loss
  • carpal bones fusion/synostosis
  • short hand/brachydactyly
  • tarsal anomaly/fusion/synostosis
  • short foot/brachydactyly of toes
  • cranial hypertension
  • cone epiphyses/epiphysis
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hydrocephaly
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Muenke Syndrome:

(show all 46)
id Description Frequency HPO Source Accession
1 abnormality of the palate typical (50%) HP:0000174
2 malar flattening typical (50%) HP:0000272
3 hypertelorism typical (50%) HP:0000316
4 sensorineural hearing impairment typical (50%) HP:0000407
5 ptosis typical (50%) HP:0000508
6 proptosis typical (50%) HP:0000520
7 brachydactyly syndrome typical (50%) HP:0001156
8 plagiocephaly typical (50%) HP:0001357
9 short toe typical (50%) HP:0001831
10 increased intracranial pressure typical (50%) HP:0002516
11 synostosis of carpal bones typical (50%) HP:0005048
12 tarsal synostosis typical (50%) HP:0008368
13 cone-shaped epiphysis typical (50%) HP:0010579
14 hydrocephalus occasional (7.5%) HP:0000238
15 macrocephaly occasional (7.5%) HP:0000256
16 cognitive impairment occasional (7.5%) HP:0100543
17 craniosynostosis HP:0001363
18 hallux valgus HP:0001822
19 carpal bone malsegmentation HP:0005776
20 shortening of all middle phalanges of the fingers HP:0006110
21 shortening of all distal phalanges of the fingers HP:0006118
22 cone-shaped epiphyses of the toes HP:0010164
23 cone-shaped epiphyses of the phalanges of the hand HP:0010230
24 autosomal dominant inheritance HP:0000006
25 high palate HP:0000218
26 brachycephaly HP:0000248
27 macrocephaly HP:0000256
28 malar flattening HP:0000272
29 low anterior hairline HP:0000294
30 hypertelorism HP:0000316
31 sensorineural hearing impairment HP:0000407
32 downslanted palpebral fissures HP:0000494
33 ptosis HP:0000508
34 capitate-hamate fusion HP:0001241
35 intellectual disability HP:0001249
36 global developmental delay HP:0001263
37 plagiocephaly HP:0001357
38 short middle phalanx of toe HP:0003795
39 coronal craniosynostosis HP:0004440
40 short middle phalanx of finger HP:0005819
41 thimble-shaped middle phalanges of hand HP:0006193
42 radial deviation of finger HP:0009466
43 broad hallux HP:0010055
44 cone-shaped epiphyses of the phalanges of the hand HP:0010230
45 midface retrusion HP:0011800
46 clinodactyly HP:0030084

Drugs & Therapeutics for Muenke Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Muenke Syndrome

Genetic Tests for Muenke Syndrome

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Genetic tests related to Muenke Syndrome:

id Genetic test Affiliating Genes
1 Muenke Syndrome20 22 FGFR3

Anatomical Context for Muenke Syndrome

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MalaCards organs/tissues related to Muenke Syndrome:

32
Bone, Testes, Temporal lobe

Animal Models for Muenke Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Muenke Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5FGFR3, FGFR2
2MP:00053778.8FGFR2, FGFR1, FGFR3
3MP:00053718.3FGFR3, FGFR1, FGFR2, TWIST1
4MP:00053828.3TWIST1, FGFR2, FGFR1, FGFR3
5MP:00053818.2TWIST1, FGFR2, FGFR1, FGFR3
6MP:00053908.2FGFR3, FGFR1, FGFR2, TWIST1
7MP:00053868.1FGFR3, FGFR1, FGFR2, TWIST1
8MP:00053848.1TWIST1, FGFR2, FGFR1, FGFR3
9MP:00036318.0TWIST1, FGFR2, FGFR1, FGFR3
10MP:00053787.8FGFR3, FGFR1, FGFR2, TWIST1

Publications for Muenke Syndrome

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Articles related to Muenke Syndrome:

(show all 27)
idTitleAuthorsYear
1
Phenotypic Variability in Two Families of Muenke Syndrome with FGFR3 Mutation. (24705944)
2014
2
Squamosal suture craniosynostosis in Muenke syndrome. (24448525)
2014
3
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. (23378035)
2013
4
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. (24168007)
2013
5
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. (24145799)
2013
6
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. (22622662)
2012
7
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). (22565872)
2012
8
Phenotype profile of a genetic mouse model for Muenke syndrome. (22872265)
2012
9
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. (23044018)
2012
10
Muenke syndrome associated with multiple osteochondromas. (22446440)
2012
11
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. (21204234)
2011
12
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. (22085076)
2011
13
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. (21233754)
2011
14
Additional phenotypic features of Muenke syndrome in 2 Dutch families. (21403557)
2011
15
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. (22016144)
2011
16
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. (21971908)
2011
17
A Korean family with the Muenke syndrome. (20592905)
2010
18
Hearing loss in a mouse model of Muenke syndrome. (18818193)
2009
19
Muenke syndrome with osteochondroma. (19097163)
2009
20
Significant phenotypic variability of Muenke syndrome in identical twins. (19449410)
2009
21
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. (19449001)
2009
22
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. (18000976)
2007
23
Craniofacial morphology in Muenke syndrome. (17414289)
2007
24
Trigonocephaly in Muenke syndrome. (17036334)
2006
25
Muenke syndrome. (14963686)
2004
26
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
27
Muenke Syndrome (20301588)
1993

Variations for Muenke Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Muenke Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Pro250ArgVAR_004150rs4647924

Clinvar genetic disease variations for Muenke Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571

Expression for genes affiliated with Muenke Syndrome

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Expression patterns in normal tissues for genes affiliated with Muenke Syndrome

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Pathways for genes affiliated with Muenke Syndrome

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Pathways related to Muenke Syndrome according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2FGFR1, FGFR3
2
Show member pathways
9.2FGFR1, FGFR3
39.1FGFR2, FGFR1
4
Show member pathways
8.7FGFR3, FGFR1, FGFR2
5
Show member pathways
8.7FGFR3, FGFR1, FGFR2
6
Show member pathways
8.7FGFR3, FGFR1, FGFR2
7
Show member pathways
8.7FGFR3, FGFR1, FGFR2
88.7FGFR3, FGFR1, FGFR2
9
Show member pathways
8.7FGFR2, FGFR1, FGFR3
108.7FGFR3, FGFR1, FGFR2
11
Show member pathways
8.7FGFR2, FGFR1, FGFR3
12
Show member pathways
8.7FGFR3, FGFR1, FGFR2
13
Show member pathways
8.7FGFR3, FGFR1, FGFR2
14
Show member pathways
8.7FGFR2, FGFR1, FGFR3
15
Show member pathways
8.7FGFR3, FGFR1, FGFR2
168.7FGFR3, FGFR1, FGFR2
17
Show member pathways
8.7FGFR3, FGFR1, FGFR2
18
Show member pathways
8.7FGFR2, FGFR1, FGFR3
19
Show member pathways
8.7FGFR2, FGFR1, FGFR3
20
Show member pathways
8.7FGFR2, FGFR1, FGFR3
21
Show member pathways
8.7FGFR2, FGFR1, FGFR3
22
Show member pathways
8.7FGFR3, FGFR1, FGFR2
23
Show member pathways
8.7FGFR2, FGFR1, FGFR3
248.7FGFR3, FGFR1, FGFR2
258.7FGFR3, FGFR1, FGFR2
268.7FGFR2, FGFR1, FGFR3
27
Show member pathways
8.7FGFR3, FGFR1, FGFR2
28
Show member pathways
8.7FGFR2, FGFR1, FGFR3
29
Show member pathways
8.7FGFR3, FGFR1, FGFR2
308.7FGFR3, FGFR1, FGFR2
31
Show member pathways
8.7FGFR2, FGFR1, FGFR3
32
Show member pathways
8.7FGFR3, FGFR1, FGFR2
33
Show member pathways
8.7FGFR2, FGFR1, FGFR3
34
Show member pathways
8.7FGFR3, FGFR1, FGFR2
35
Show member pathways
8.7FGFR3, FGFR1, FGFR2
36
Show member pathways
MAPK signaling pathway37
8.7FGFR2, FGFR1, FGFR3
37
Show member pathways
8.7FGFR3, FGFR1, FGFR2
38
Show member pathways
8.7FGFR3, FGFR1, FGFR2
39
Show member pathways
8.7FGFR2, FGFR1, FGFR3
40
Show member pathways
Signaling Pathways in Glioblastoma37
8.7FGFR3, FGFR1, FGFR2
41
Show member pathways
8.7FGFR3, FGFR1, FGFR2
42
Show member pathways
8.7FGFR3, FGFR1, FGFR2
438.1FGFR3, FGFR1, FGFR2, TWIST1

Compounds for genes affiliated with Muenke Syndrome

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Compounds related to Muenke Syndrome according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1thalidomide44 50 61 1112.7FGFR2, FGFR3
2sulfate44 2410.6FGFR2, FGFR3
3pazopanib50 1110.5FGFR3, FGFR1
4regorafenib50 1110.4FGFR1, FGFR2
5chondroitin sulfate44 2410.4FGFR2, FGFR1
6suramin44 28 1111.3FGFR1, FGFR2
7bromodeoxyuridine449.1FGFR2, FGFR1
8heparan sulfate44 2410.1FGFR1, FGFR2
9su 5402619.1FGFR3, FGFR2, FGFR1
10pd 161570619.0FGFR2, FGFR1, FGFR3
11fiin 1 hydrochloride619.0FGFR2, FGFR1, FGFR3
12su5402449.0FGFR2, FGFR1, FGFR3
13pd 17307444 6110.0FGFR3, FGFR1, FGFR2
14palifermin44 1110.0FGFR2, FGFR1, FGFR3
15ponatinib50 1110.0FGFR3, FGFR1, FGFR2
16phenylalanine449.0FGFR3, FGFR1, FGFR2
17phosphotyrosine449.0FGFR2, FGFR1, FGFR3
18lysine449.0FGFR2, FGFR1, FGFR3
19oligonucleotide448.9FGFR2, FGFR1, FGFR3
20imatinib44 50 1110.9FGFR3, FGFR1
21vegf448.9FGFR3, FGFR1, FGFR2
22threonine448.9FGFR2, FGFR1, FGFR3
23glutamate448.8FGFR3, FGFR1, FGFR2
24paclitaxel44 50 1110.8FGFR1, FGFR2, TWIST1
25cysteine448.6FGFR3, FGFR1, FGFR2
26estrogen448.6FGFR1, FGFR2, TWIST1
27tyrosine448.3FGFR3, FGFR1, FGFR2, TWIST1

GO Terms for genes affiliated with Muenke Syndrome

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Cellular components related to Muenke Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.7FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.4FGFR3, FGFR1, FGFR2

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:0703079.9FGFR3, FGFR2
2negative regulation of mitosisGO:0458399.9FGFR3, FGFR2
3bone morphogenesisGO:0603499.8FGFR2, FGFR3
4negative regulation of epithelial cell proliferationGO:0506809.7FGFR2, FGFR3
5positive regulation of canonical Wnt signaling pathwayGO:0902639.7FGFR3, FGFR2
6embryonic cranial skeleton morphogenesisGO:0487019.6TWIST1, FGFR2
7odontogenesisGO:0424769.6TWIST1, FGFR2
8positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.6FGFR1, FGFR3
9fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.6FGFR1, FGFR2
10ventricular zone neuroblast divisionGO:0218479.6FGFR1, FGFR2
11mesenchymal cell differentiationGO:0487629.5FGFR1, FGFR2
12lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
13branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
14positive regulation of epithelial cell proliferationGO:0506799.5TWIST1, FGFR2
15positive regulation of cardiac muscle cell proliferationGO:0600459.5FGFR1, FGFR2
16chondrocyte differentiationGO:0020629.5FGFR1, FGFR3
17skeletal system morphogenesisGO:0487059.5FGFR2, FGFR1
18positive regulation of cell cycleGO:0457879.4FGFR1, FGFR2
19outer ear morphogenesisGO:0424739.4FGFR1, TWIST1
20midbrain developmentGO:0309019.4FGFR1, FGFR2
21positive regulation of mesenchymal cell proliferationGO:0020539.4FGFR1, FGFR2
22positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR3, FGFR2
23ureteric bud developmentGO:0016579.4FGFR1, FGFR2
24MAPK cascadeGO:0001659.3FGFR3, FGFR1
25inner ear morphogenesisGO:0424729.2FGFR2, FGFR1
26skeletal system developmentGO:0015019.2FGFR3, FGFR1
27positive regulation of phospholipase activityGO:0105189.1FGFR3, FGFR1, FGFR2
28positive regulation of MAPK cascadeGO:0434109.1FGFR2, FGFR1, FGFR3
29peptidyl-tyrosine phosphorylationGO:0181089.1FGFR2, FGFR1, FGFR3
30phosphatidylinositol-mediated signalingGO:0480159.1FGFR2, FGFR1, FGFR3
31insulin receptor signaling pathwayGO:0082869.1FGFR2, FGFR1, FGFR3
32protein autophosphorylationGO:0467779.1FGFR2, FGFR1, FGFR3
33fibroblast growth factor receptor signaling pathwayGO:0085439.1FGFR3, FGFR1, FGFR2
34Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR2, FGFR1, FGFR3
35epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR2, FGFR1, FGFR3
36neurotrophin TRK receptor signaling pathwayGO:0480119.0FGFR3, FGFR1, FGFR2
37positive regulation of cell proliferationGO:0082848.9FGFR3, FGFR1, FGFR2
38in utero embryonic developmentGO:0017018.9FGFR1, FGFR2, TWIST1
39neuron migrationGO:0017648.7FGFR1, TWIST1
40innate immune responseGO:0450878.7FGFR2, FGFR1, FGFR3
41negative regulation of transcription from RNA polymerase II promoterGO:0001228.5FGFR3, FGFR1, FGFR2, TWIST1

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.7FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.7FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.6FGFR2, FGFR1, FGFR3
5protein homodimerization activityGO:0428038.2FGFR1, FGFR2, TWIST1

Products for genes affiliated with Muenke Syndrome

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Sources for Muenke 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet