MCID: SYN005
MIFTS: 54

Synostosis malady

Genetic diseases, Bone diseases, Ear diseases, Fetal diseases, Rare diseases categories

Summaries for Synostosis

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Wikipedia:66 Synostosis means fusion of two bones, it can be normal in puberty, fusion of the epiphysis, or abnormal.... more...

MalaCards: Synostosis is related to radioulnar synostosis and antley-bixler syndrome. An important gene associated with Synostosis is HOXA11 (homeobox A11), and among its related pathways are Endochondral Ossification and Signaling by FGFR3 mutants. The compounds pazopanib and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and thyroid, and related mouse phenotypes are renal/urinary system and no phenotypic analysis.

Disease Ontology:9 A dysostosis that results in abnormal fusing of adjacent bones.

Aliases & Classifications for Synostosis

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9Disease Ontology, 11DISEASES, 46Novoseek, 36MeSH, 63UMLS
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Classifications:



Aliases & Descriptions:

synostosis 9 11 46


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Disease Ontology9 DOID:11971
MeSH36 D013580

Related Diseases for Synostosis

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18GeneCards, 19GeneDecks
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Diseases in the Multiple Synostosis Syndrome 1 family:

synostosis

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

(show top 50)    (show all 296)
idRelated DiseaseScoreTop Affiliating Genes
1radioulnar synostosis31.4HOXA11
2antley-bixler syndrome30.5FGFR2
3craniosynostosis30.4TWIST1, FGFR2, FGFR1, FGFR3
4syndactyly30.2FGFR3, FGFR2
5muenke syndrome30.1FGFR3, FGFR1, FGFR2, TWIST1
6achondroplasia30.0FGFR2, FGFR3
7strabismus30.0FGFR2, FGFR3
8saethre-chotzen syndrome29.9TWIST1, FGFR2, FGFR1, FGFR3
9crouzon syndrome29.9FGFR3, FGFR1, FGFR2
10osteoglophonic dysplasia29.9FGFR1
11osteochondroma29.8FGFR3
12beare-stevenson cutis gyrata syndrome29.8FGFR2
13infectious mononucleosis29.8FGFR1, FGFR2
14ladd syndrome29.7FGFR2, FGFR3
15jackson-weiss syndrome29.7FGFR2, FGFR1, FGFR3
16acrocephalosyndactylia29.7FGFR2, FGFR1, FGFR3
17cleft palate29.6FGFR1, FGFR2, TWIST1
18lambdoid synostosis10.6
19spondylocarpotarsal synostosis syndrome10.6
20congenital radio-ulnar synostosis10.5
21plagiocephaly10.5
22humeroradial synostosis10.3
23humeroradioulnar synostosis10.3
24microcephaly10.2
25radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.2
26cervicitis10.2
27hypertension10.2
28intracranial hypertension10.2
29coronal synostosis, syndactyly and jejunal atresia10.2
30jorgenson lenz syndrome10.2
31radio-ulnar synostosis type 110.2
32radio-ulnar synostosis type 210.2
33radioulnar synostosis retinal pigment abnormalities10.2
34ramer ladda syndrome10.2
35short stature10.2
36roberts syndrome10.1
37thrombocytopenia10.1
38mesomelic dysplasia kantaputra type10.1
39mental retardation10.1
40radioulnar synostosis with amegakaryocytic thrombocytopenia10.1
41craniosynostosis - hydrocephalus - arnold-chiari malformation type i - radioulnar synostosis10.1
42synostosis - microcephaly - scoliosis10.1
43radio-ulnar synostosis - intellectual disability - hypotonia10.1
44tibio-fibular synostosis10.1
45osteochondrodysplasia10.0FGFR3, FLNB
46williams-beuren syndrome10.0
47proximal symphalangism10.0
48anophthalmos with limb anomalies10.0
49cleft palate colobomata radial synostosis deafness10.0
50congenital heart disease radio ulnar synostosis mental retardation10.0

Graphical network of the top 20 diseases related to Synostosis:



Diseases related to synostosis

Symptoms for Synostosis

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Drugs & Therapeutics for Synostosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Synostosis

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Anatomical Context for Synostosis

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34MalaCards
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MalaCards organs/tissues related to Synostosis:

34
Bone, Bone marrow, Thyroid, Eye, Brain, Testes

Animal Models for Synostosis or affiliated genes

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38MGI
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Publications for Synostosis

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53PubMed
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Articles related to Synostosis:

(show top 50)    (show all 536)
idTitleAuthorsYear
1
Correction of hypotelorism in isolated metopic synostosis. (23848421)
2014
2
Improving ophthalmic outcomes in children with unilateral coronal synostosis by treatment with endoscopic strip craniectomy and helmet therapy rather than fronto-orbital advancement. (23791406)
2013
3
Early frontofacial symmetry after correction of unilateral coronal synostosis: frontoorbital advancement vs endoscopic strip craniectomy and helmet therapy. (23851767)
2013
4
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. (23821677)
2013
5
Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report. (23466123)
2013
6
Rapid re-synostosis following suturectomy in pediatric mice is age and location dependent. (23201269)
2013
7
Delayed intracranial hypertension after cranial vault remodeling for nonsyndromic single-suture synostosis. (23581636)
2013
8
Magnetic resonance imaging in isolated sagittal synostosis. (22801186)
2012
9
A family with radio-ulnar synostosis, scoliosis, and thick vermilion of lips: a novel syndrome or variant of GiuffrA"-Tsukahara syndrome? (22786695)
2012
10
Preoperative and postoperative developmental attainment in patients with sagittal synostosis: 5-year follow-up. (21284455)
2011
11
Proximal tibiofibular synostosis as a possible cause of a pseudoradicular syndrome: a case report. (21222100)
2011
12
Tibia vara deformity after below knee amputation and synostosis formation in children. (19352235)
2009
13
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. (19499298)
2009
14
Two cases of feline ectromelia: autopodium ectromelia associated with humero-ulnar synostosis and zeugopodium ectromelia. (19560386)
2009
15
Increased frequency of left-handedness in patients with unilateral coronal synostosis. (19642752)
2009
16
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. (19022412)
2009
17
Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype? (19396832)
2009
18
Proximal radio-ulnar synostosis and nonunion after olecranon fracture tension-band wiring: a case report. (19393921)
2009
19
Cranial expansion with distraction osteogenesis for multiple-suture synostosis in school-aged children. (19326488)
2009
20
Unilateral radio-ulnar synostosis and idic-Y chromosome. (19239087)
2008
21
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. (18553517)
2008
22
Facial asymmetry in unilateral coronal synostosis: long-term results after fronto-orbital advancement. (18300974)
2008
23
Detection of important venous collaterals by computed tomography venogram in multisutural synostosis. Case report and review of the literature. (18154023)
2007
24
Zygomaticotemporal synostosis: a rare cause of progressive facial asymmetry. (17214532)
2007
25
Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. (17551721)
2007
26
Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome. (17304553)
2007
27
Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly. (17891404)
2007
28
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. (16753242)
2006
29
Asymmetrical tetraphocomelia with radiohumeral synostosis. (16885632)
2006
30
Sagittal synostosis: I. Preoperative morphology of the skull. (16911991)
2006
31
Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis. (15213550)
2004
32
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. (15083702)
2004
33
Hybrid of distraction osteogenesis unilateral frontal distraction and supraorbital reshaping in correction of unilateral coronal synostosis. (15547381)
2004
34
Posttraumatic distal radioulnar synostosis and distal radial epiphyseal arrest. (11881314)
2002
35
Clinical outcome of the modified pi-plasty procedure for sagittal synostosis. (11358093)
2001
36
The faith of a coronal suture grafted onto midline synostosis inducing dura and deprived from tensile stress. (11522177)
2001
37
Management of radioulnar synostosis with mobilization, anconeus interposition, and a forearm rotation assist splint. (10633900)
1999
38
The Antley-Bixler syndrome. A new case without radiohumeral synostosis. (9664207)
1998
39
Preoperative morphology and development in sagittal synostosis. (9672839)
1998
40
Surgical management of sagittal synostosis: a comparative analysis of strip craniectomy and calvarial vault remodeling. (9548524)
1997
41
Osteoblast-directed osteoclast metabolism from patients with premature coronal synostosis. (9145118)
1997
42
Long-term studies of metopic synostosis: frequency of cognitive impairment and behavioral disturbances. (8559809)
1996
43
Stability of fronto-orbital advancement in nonsyndromic bilateral coronal synostosis: a quantitative three-dimensional computed tomographic study. (8700973)
1996
44
Occipital plagiocephaly: deformation or lambdoid synostosis? II. A unifying theory regarding pathogenesis. (8841076)
1996
45
Outcome analysis of 85 patients undergoing the pi procedure for correction of sagittal synostosis. (8683282)
1996
46
Lambdoid synostosis. (7813157)
1994
47
Radio-ulnar synostosis following external fixation. (8294821)
1993
48
Treatment of posttraumatic radioulnar synostosis with excision and low-dose radiation. (8349985)
1993
49
Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome? (8267929)
1993
50
A Case of Enlarged Parietal Foramina associated with Metropism and Irregular Synostosis of the Coronal Suture. (17104407)
1932

Variations for Synostosis

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Expression for genes affiliated with Synostosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Synostosis

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Pathways for genes affiliated with Synostosis

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 61Thomson Reuters, 31KEGG, 55R&D Systems, 52PharmGKB, 58SinoBiological, 5Cell Signaling Technology, 62Tocris Bioscience
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Pathways related to Synostosis according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FGFR1, FGFR3
2
Show member pathways
9.4FGFR3, FGFR1
39.3FGFR1, FGFR2
4
Show member pathways
8.8FGFR3, FGFR1, FGFR2
5
Show member pathways
8.8FGFR3, FGFR1, FGFR2
68.8FGFR3, FGFR1, FGFR2
7
Show member pathways
8.8FGFR3, FGFR1, FGFR2
8
Show member pathways
8.8FGFR3, FGFR1, FGFR2
9
Show member pathways
8.8FGFR3, FGFR1, FGFR2
10
Show member pathways
8.8FGFR3, FGFR1, FGFR2
11
Show member pathways
8.8FGFR3, FGFR1, FGFR2
12
Show member pathways
8.8FGFR3, FGFR1, FGFR2
13
Show member pathways
8.8FGFR3, FGFR1, FGFR2
14
Show member pathways
8.8FGFR3, FGFR1, FGFR2
158.8FGFR3, FGFR1, FGFR2
16
Show member pathways
Signaling Pathways in Glioblastoma39
8.8FGFR3, FGFR1, FGFR2
17
Show member pathways
8.8FGFR3, FGFR1, FGFR2
18
Show member pathways
8.8FGFR3, FGFR1, FGFR2
198.8FGFR3, FGFR1, FGFR2
20
Show member pathways
8.8FGFR3, FGFR1, FGFR2
218.8FGFR3, FGFR1, FGFR2
22
Show member pathways
8.8FGFR3, FGFR1, FGFR2
23
Show member pathways
8.8FGFR3, FGFR1, FGFR2
24
Show member pathways
8.8FGFR3, FGFR1, FGFR2
25
Show member pathways
8.8FGFR3, FGFR1, FGFR2
26
Show member pathways
8.8FGFR2, FGFR1, FGFR3
27
Show member pathways
8.8FGFR2, FGFR1, FGFR3
28
Show member pathways
8.8FGFR2, FGFR1, FGFR3
29
Show member pathways
8.8FGFR2, FGFR1, FGFR3
30
Show member pathways
8.8FGFR2, FGFR1, FGFR3
31
Show member pathways
8.8FGFR2, FGFR1, FGFR3
328.8FGFR2, FGFR1, FGFR3
33
Show member pathways
8.8FGFR2, FGFR1, FGFR3
34
Show member pathways
8.8FGFR2, FGFR1, FGFR3
358.8FGFR2, FGFR1, FGFR3
36
Show member pathways
8.8FGFR2, FGFR1, FGFR3
37
Show member pathways
8.8FGFR2, FGFR1, FGFR3
38
Show member pathways
8.8FGFR2, FGFR1, FGFR3
398.7FGFR1, TWIST1, FLNB
40
Show member pathways
MAPK signaling pathway39
8.4FGFR3, FGFR1, FGFR2, FLNB
41
Show member pathways
8.4FLNB, FGFR2, FGFR1, FGFR3
42
Show member pathways
8.4FGFR3, FGFR1, FGFR2, FLNB
438.0FGFR3, FGFR1, FGFR2, TWIST1

Compounds for genes affiliated with Synostosis

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52PharmGKB, 12DrugBank, 46Novoseek, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Synostosis according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1pazopanib52 1210.7FGFR1, FGFR3
2regorafenib52 1210.6FGFR2, FGFR1
3chondroitin sulfate46 2510.5FGFR2, FGFR1
4thalidomide46 52 62 1212.5FGFR2, FGFR3
5suramin46 30 1211.4FGFR1, FGFR2
6bromodeoxyuridine469.3FGFR1, FGFR2
7sulfate46 2510.2FGFR3, FGFR2
8su 5402629.2FGFR3, FGFR2, FGFR1
9pd 161570629.2FGFR2, FGFR1, FGFR3
10fiin 1 hydrochloride629.2FGFR2, FGFR1, FGFR3
11su5402469.2FGFR2, FGFR1, FGFR3
12pd 17307446 6210.1FGFR3, FGFR1, FGFR2
13progesterone46 30 62 25 1213.1FGFR1, FGFR2, HOXA11
14palifermin46 1210.1FGFR2, FGFR1, FGFR3
15ponatinib52 1210.1FGFR3, FGFR1, FGFR2
16phenylalanine469.1FGFR3, FGFR1, FGFR2
17phosphotyrosine469.1FGFR3, FGFR1, FGFR2
18lysine469.1FGFR3, FGFR1, FGFR2
19oligonucleotide469.0FGFR2, FGFR1, FGFR3
20vegf468.9FGFR3, FGFR1, FGFR2
21threonine468.8FGFR2, FGFR1, FGFR3
22paclitaxel46 52 1210.8TWIST1, FGFR2, FGFR1
23glutamate468.5FGFR3, FGFR1, FGFR2
24tyrosine468.2TWIST1, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Synostosis

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17Gene Ontology
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Cellular components related to Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1focal adhesionGO:0059259.5FGFR3, FLNB
2cell cortexGO:0059389.3FGFR2, FLNB
3cytoplasmic membrane-bounded vesicleGO:0160238.8FGFR3, FGFR1, FGFR2
4nucleusGO:0056347.3HOXA11, TWIST1, FGFR2, FGFR1, FGFR3

Biological processes related to Synostosis according to GeneCards/GeneDecks:

(show all 45)
idNameGO IDScoreTop Affiliating Genes
1organ inductionGO:0017599.9FGFR1, HOXA11
2positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.9FGFR1, FGFR3
3embryonic limb morphogenesisGO:0303269.8FGFR1, HOXA11
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.8FGFR1, FGFR2
5ventricular zone neuroblast divisionGO:0218479.8FGFR1, FGFR2
6mesenchymal cell differentiationGO:0487629.8FGFR2, FGFR1
7lens fiber cell developmentGO:0703079.7FGFR2, FGFR3
8negative regulation of mitosisGO:0458399.7FGFR2, FGFR3
9lung-associated mesenchyme developmentGO:0604849.7FGFR1, FGFR2
10branching involved in salivary gland morphogenesisGO:0604459.7FGFR1, FGFR2
11chondrocyte differentiationGO:0020629.7FGFR1, FGFR3
12positive regulation of cardiac muscle cell proliferationGO:0600459.7FGFR1, FGFR2
13bone morphogenesisGO:0603499.7FGFR2, FGFR3
14skeletal system morphogenesisGO:0487059.7FGFR2, FGFR1
15positive regulation of cell cycleGO:0457879.7FGFR1, FGFR2
16midbrain developmentGO:0309019.6FGFR2, FGFR1
17positive regulation of mesenchymal cell proliferationGO:0020539.6FGFR1, FGFR2
18ureteric bud developmentGO:0016579.6FGFR1, FGFR2
19embryonic forelimb morphogenesisGO:0351159.5HOXA11, TWIST1
20outer ear morphogenesisGO:0424739.5TWIST1, FGFR1
21negative regulation of epithelial cell proliferationGO:0506809.5FGFR3, FGFR2
22positive regulation of canonical Wnt signaling pathwayGO:0902639.5FGFR2, FGFR3
23embryonic digit morphogenesisGO:0427339.4TWIST1, HOXA11
24inner ear morphogenesisGO:0424729.4FGFR1, FGFR2
25skeletal system developmentGO:0015019.4FGFR3, FGFR1, HOXA11
26MAPK cascadeGO:0001659.4FGFR3, FGFR1
27embryonic cranial skeleton morphogenesisGO:0487019.4TWIST1, FGFR2
28odontogenesisGO:0424769.3FGFR2, TWIST1
29positive regulation of phospholipase activityGO:0105189.3FGFR3, FGFR1, FGFR2
30positive regulation of MAPK cascadeGO:0434109.2FGFR2, FGFR1, FGFR3
31peptidyl-tyrosine phosphorylationGO:0181089.2FGFR3, FGFR1, FGFR2
32phosphatidylinositol-mediated signalingGO:0480159.2FGFR3, FGFR1, FGFR2
33insulin receptor signaling pathwayGO:0082869.2FGFR3, FGFR1, FGFR2
34protein autophosphorylationGO:0467779.2FGFR2, FGFR1, FGFR3
35fibroblast growth factor receptor signaling pathwayGO:0085439.2FGFR3, FGFR1, FGFR2
36Fc-epsilon receptor signaling pathwayGO:0380959.2FGFR2, FGFR1, FGFR3
37epidermal growth factor receptor signaling pathwayGO:0071739.2FGFR2, FGFR1, FGFR3
38neurotrophin TRK receptor signaling pathwayGO:0480119.2FGFR3, FGFR1, FGFR2
39neuron migrationGO:0017649.1FGFR1, TWIST1
40positive regulation of epithelial cell proliferationGO:0506799.1FGFR2, TWIST1
41positive regulation of ERK1 and ERK2 cascadeGO:0703749.0FGFR3, FGFR2
42positive regulation of cell proliferationGO:0082849.0FGFR2, FGFR1, FGFR3
43in utero embryonic developmentGO:0017018.9FGFR1, FGFR2, TWIST1
44innate immune responseGO:0450878.7FGFR2, FGFR1, FGFR3
45negative regulation of transcription from RNA polymerase II promoterGO:0001228.4FGFR3, FGFR1, FGFR2, TWIST1

Molecular functions related to Synostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.3FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.9FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.8FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.7FGFR2, FGFR1, FGFR3
5protein homodimerization activityGO:0428038.2FGFR1, FGFR2, TWIST1

Products for genes affiliated with Synostosis

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Sources for Synostosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet