JWS
MCID: JCK001
MIFTS: 58

Jackson-Weiss Syndrome (JWS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Jackson-Weiss Syndrome

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NIH Rare Diseases:42 Jackson-weiss syndrome (jws) is a genetic disorder characterized by specific malformations of the head and facial area and abnormalities of the feet. the range and severity of symptoms and findings may be extremely variable, and findings may include craniosynostosis; unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. it is caused by mutations in the fgfr2 gene and is inherited in an autosomal dominant manner; in some cases, it is not inherited but results from a new mutation that occurs randomly. the treatment of jws is typically directed toward the specific symptoms that are apparent in each individual. last updated: 5/14/2011

MalaCards based summary: Jackson-Weiss Syndrome, also known as JWS, is related to crouzon syndrome and saethre-chotzen syndrome, and has symptoms including turricephaly/oxycephaly/acrocephaly, hypertelorism and mid-facial hypoplasia/short/small midface. An important gene associated with Jackson-Weiss Syndrome is FGFR2 (fibroblast growth factor receptor 2), and among its related pathways are Endocytosis and Endochondral Ossification. The compounds thalidomide and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are renal/urinary system and normal.

Genetics Home Reference:21 Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Description from OMIM:46 123150

Aliases & Classifications for Jackson-Weiss Syndrome

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

Jackson-Weiss Syndrome, Aliases & Descriptions:

Name: Jackson-Weiss Syndrome 65 42 20 22 21 46 44 48 62
Jws 65 42 21 48
 
Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities 42
Craniosynostosis - Midfacial Hypoplasia - Foot Abnormalities 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
jackson-weiss syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 123150
MESH via Orphanet35 C537559
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0795998

Related Diseases for Jackson-Weiss Syndrome

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1crouzon syndrome30.2FGFR2, FGFR1, FGFR3
2saethre-chotzen syndrome30.1FGFR2, FGFR1, FGFR3
3craniosynostosis30.1FGFR3, FGFR1, FGFR2
4myeloma29.8FGFR3, FGFR1
5osteochondroma10.4FGFR3
6beare-stevenson cutis gyrata syndrome10.4FGFR2
7antley-bixler syndrome10.3FGFR2
8osteoglophonic dysplasia10.3FGFR1
9achondroplasia10.1FGFR2, FGFR3
10ladd syndrome10.1FGFR3, FGFR2
11strabismus10.1FGFR3, FGFR2
12thanatophoric dysplasia10.1FGFR3, FGFR2
13acanthosis nigricans10.1FGFR2, FGFR3
14syndactyly10.1FGFR2, FGFR3
15transitional cell carcinoma10.1FGFR2, FGFR3
16bladder carcinoma10.1FGFR3, FGFR2
17burns10.0
18ulnar neuropathy10.0
19paramyloidosis10.0
20neuropathy10.0
21spinal shock10.0
22skin disease10.0FGFR3, FGFR2
23infectious mononucleosis10.0FGFR1, FGFR2
24cleft palate10.0FGFR1, FGFR2
25embryonal cancer9.9FGFR1, FGFR2
26stomach cancer9.9FGFR1, FGFR2
27prostate cancer9.8FGFR2, FGFR1
28primary hyperoxaluria9.8FGFR1, FGFR2
29fgfr-related craniosynostosis syndromes9.8FGFR3, FGFR1, FGFR2
30muenke syndrome9.8FGFR2, FGFR1, FGFR3
31hypochondroplasia9.8FGFR2, FGFR1, FGFR3
32acrocephalosyndactylia9.8FGFR3, FGFR1, FGFR2
33synostosis9.8FGFR2, FGFR1, FGFR3
34skeletal dysplasia multi-gene panels9.8FGFR2, FGFR1, FGFR3
35dwarfism9.8FGFR3, FGFR1, FGFR2
36developmental disabilities9.8FGFR2, FGFR1, FGFR3
37chondrosarcoma9.8FGFR3, FGFR1, FGFR2
38colorectal cancer9.7FGFR3, FGFR1, FGFR2
39melanoma9.7FGFR2, FGFR1, FGFR3
40leukemia9.7FGFR3, FGFR1, FGFR2
41astrocytoma9.7FGFR1, FGFR2
42breast cancer9.7FGFR3, FGFR1, FGFR2

Graphical network of the top 20 diseases related to Jackson-Weiss Syndrome:



Diseases related to jackson-weiss syndrome

Symptoms for Jackson-Weiss Syndrome

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Symptoms by clinical synopsis from OMIM:

123150

Clinical features from OMIM:

123150

Symptoms:

48 (show all 21)
  • turricephaly/oxycephaly/acrocephaly
  • hypertelorism
  • mid-facial hypoplasia/short/small midface
  • tarsal anomaly/fusion/synostosis
  • syndactyly of toes
  • broad/bifid big toe
  • autosomal dominant inheritance
  • frontal bossing/prominent forehead
  • flat supraorbital ridge
  • proptosis/exophthalmos
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • prognathism/prognathia
  • strabismus/squint
  • ptosis
  • beaked nose
  • high vaulted/narrow palate
  • syndactyly of fingers/interdigital palm
  • symphalangy of fingers
  • fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly
  • preaxial polydactyly of toes/big toe duplication
  • oligodactyly/ectrodactyly of toes

HPO human phenotypes related to Jackson-Weiss Syndrome:

(show all 28)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 hypertelorism hallmark (90%) HP:0000316
3 toe syndactyly hallmark (90%) HP:0001770
4 preaxial foot polydactyly hallmark (90%) HP:0001841
5 tarsal synostosis hallmark (90%) HP:0008368
6 abnormality of the palate typical (50%) HP:0000174
7 mandibular prognathia typical (50%) HP:0000303
8 convex nasal ridge typical (50%) HP:0000444
9 strabismus typical (50%) HP:0000486
10 ptosis typical (50%) HP:0000508
11 proptosis typical (50%) HP:0000520
12 frontal bossing typical (50%) HP:0002007
13 underdeveloped supraorbital ridges typical (50%) HP:0009891
14 split foot occasional (7.5%) HP:0001839
15 preaxial foot polydactyly occasional (7.5%) HP:0001841
16 abnormality of the fibula occasional (7.5%) HP:0002991
17 finger syndactyly occasional (7.5%) HP:0006101
18 symphalangism affecting the phalanges of the hand occasional (7.5%) HP:0009773
19 autosomal dominant inheritance HP:0000006
20 malar flattening HP:0000272
21 craniosynostosis HP:0001363
22 broad metatarsal HP:0001783
23 2-3 toe syndactyly HP:0004691
24 hallux varus HP:0008080
25 calcaneonavicular fusion HP:0008122
26 broad hallux HP:0010055
27 short metatarsal HP:0010743
28 midface retrusion HP:0011800

Drugs & Therapeutics for Jackson-Weiss Syndrome

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Drug clinical trials:

Search ClinicalTrials for Jackson-Weiss Syndrome

Search NIH Clinical Center for Jackson-Weiss Syndrome

Genetic Tests for Jackson-Weiss Syndrome

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Genetic tests related to Jackson-Weiss Syndrome:

id Genetic test Affiliating Genes
1 Jackson-Weiss Syndrome20 22 FGFR2

Anatomical Context for Jackson-Weiss Syndrome

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MalaCards organs/tissues related to Jackson-Weiss Syndrome:

32
Bone

Animal Models for Jackson-Weiss Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Jackson-Weiss Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5FGFR3, FGFR2
2MP:00028739.3FGFR3, FGFR2
3MP:00053778.7FGFR3, FGFR1, FGFR2
4MP:00053718.7FGFR3, FGFR1, FGFR2
5MP:00053828.7FGFR2, FGFR1, FGFR3
6MP:00030128.6FGFR3, FGFR1, FGFR2
7MP:00053818.6FGFR2, FGFR1, FGFR3
8MP:00053918.5FGFR3, FGFR1, FGFR2
9MP:00053908.4FGFR2, FGFR1, FGFR3
10MP:00107718.2FGFR3, FGFR1, FGFR2

Publications for Jackson-Weiss Syndrome

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Articles related to Jackson-Weiss Syndrome:

idTitleAuthorsYear
1
Jackson-Weiss syndrome. (11343324)
2001
2
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in &quot;lost&quot; descendants of the original kindred. (11343323)
2001
3
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. (9385368)
1997
4
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. (8528214)
1995
5
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. (7581378)
1995
6
Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities. (7924855)
1994
7
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. (8128964)
1994
8
Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. (8092187)
1994

Variations for Jackson-Weiss Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Jackson-Weiss Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGFR2p.Cys278PheVAR_004121
2FGFR2p.Gln289ProVAR_004123
3FGFR2p.Cys342ArgVAR_004137
4FGFR2p.Cys342SerVAR_004138
5FGFR2p.Ala344GlyVAR_004140

Clinvar genetic disease variations for Jackson-Weiss Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
2FGFR2NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)single nucleotide variantPathogenicrs121918488GRCh37Chr 10, 123276893: 123276893
3FGFR2NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly)single nucleotide variantPathogenicrs121918492GRCh37Chr 10, 123276886: 123276886
4FGFR2NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro)single nucleotide variantPathogenicrs121918497GRCh37Chr 10, 123279566: 123279566
5FGFR1NM_023110.2(FGFR1): c.755C> G (p.Pro252Arg)single nucleotide variantPathogenicrs121909627GRCh37Chr 8, 38282208: 38282208

Expression for genes affiliated with Jackson-Weiss Syndrome

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Expression patterns in normal tissues for genes affiliated with Jackson-Weiss Syndrome

Search GEO for disease gene expression data for Jackson-Weiss Syndrome.

Pathways for genes affiliated with Jackson-Weiss Syndrome

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Pathways related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR3, FGFR2
29.1FGFR3, FGFR1
3
Show member pathways
9.1FGFR1, FGFR3
49.0FGFR1, FGFR2
5
Show member pathways
8.5FGFR2, FGFR1, FGFR3
6
Show member pathways
8.5FGFR3, FGFR1, FGFR2
7
Show member pathways
8.5FGFR3, FGFR1, FGFR2
8
Show member pathways
8.5FGFR2, FGFR1, FGFR3
9
Show member pathways
8.5FGFR3, FGFR1, FGFR2
10
Show member pathways
8.5FGFR3, FGFR1, FGFR2
11
Show member pathways
8.5FGFR3, FGFR1, FGFR2
12
Show member pathways
8.5FGFR3, FGFR1, FGFR2
138.5FGFR2, FGFR1, FGFR3
14
Show member pathways
8.5FGFR2, FGFR1, FGFR3
15
Show member pathways
8.5FGFR3, FGFR1, FGFR2
168.5FGFR2, FGFR1, FGFR3
17
Show member pathways
8.5FGFR3, FGFR1, FGFR2
18
Show member pathways
8.5FGFR2, FGFR1, FGFR3
19
Show member pathways
8.5FGFR3, FGFR1, FGFR2
208.5FGFR3, FGFR1, FGFR2
21
Show member pathways
8.5FGFR3, FGFR1, FGFR2
22
Show member pathways
8.5FGFR2, FGFR1, FGFR3
23
Show member pathways
8.5FGFR2, FGFR1, FGFR3
24
Show member pathways
8.5FGFR2, FGFR1, FGFR3
258.5FGFR3, FGFR1, FGFR2
268.5FGFR3, FGFR1, FGFR2
278.5FGFR2, FGFR1, FGFR3
28
Show member pathways
8.5FGFR3, FGFR1, FGFR2
298.5FGFR2, FGFR1, FGFR3
30
Show member pathways
8.5FGFR3, FGFR1, FGFR2
31
Show member pathways
8.5FGFR3, FGFR1, FGFR2
32
Show member pathways
8.5FGFR2, FGFR1, FGFR3
33
Show member pathways
8.5FGFR3, FGFR1, FGFR2
34
Show member pathways
8.5FGFR3, FGFR1, FGFR2
35
Show member pathways
8.5FGFR2, FGFR1, FGFR3
36
Show member pathways
8.5FGFR3, FGFR1, FGFR2
37
Show member pathways
MAPK signaling pathway37
8.5FGFR3, FGFR1, FGFR2
38
Show member pathways
8.5FGFR3, FGFR1, FGFR2
39
Show member pathways
8.5FGFR3, FGFR1, FGFR2
40
Show member pathways
8.5FGFR2, FGFR1, FGFR3
41
Show member pathways
8.5FGFR3, FGFR1, FGFR2
42
Show member pathways
Signaling Pathways in Glioblastoma37
8.5FGFR3, FGFR1, FGFR2
43
Show member pathways
8.5FGFR3, FGFR1, FGFR2
44
Show member pathways
8.5FGFR2, FGFR1, FGFR3
458.5FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Jackson-Weiss Syndrome

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Compounds related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1thalidomide44 50 61 1112.7FGFR2, FGFR3
2sulfate44 2410.6FGFR2, FGFR3
3guanine44 24 1111.5FGFR3, FGFR2
4pazopanib50 1110.5FGFR1, FGFR3
5imatinib44 50 1111.4FGFR3, FGFR1
6regorafenib50 1110.4FGFR2, FGFR1
7chondroitin sulfate44 2410.4FGFR2, FGFR1
8suramin44 28 1111.3FGFR1, FGFR2
9bromodeoxyuridine449.3FGFR1, FGFR2
10heparan sulfate44 2410.3FGFR1, FGFR2
11glyceraldehyde 3-phosphate449.3FGFR1, FGFR2
12agar449.2FGFR1, FGFR2
13ribonucleic acid449.1FGFR2, FGFR1
1412-o-tetradecanoylphorbol 13-acetate449.1FGFR1, FGFR2
15polysaccharide449.0FGFR1, FGFR2
16pd 98,059449.0FGFR1, FGFR2
17paclitaxel44 50 1110.9FGFR2, FGFR1
18su 5402618.9FGFR3, FGFR2, FGFR1
19pd 161570618.9FGFR2, FGFR1, FGFR3
20fiin 1 hydrochloride618.9FGFR2, FGFR1, FGFR3
21su5402448.9FGFR2, FGFR1, FGFR3
22pd 17307444 619.9FGFR3, FGFR1, FGFR2
23palifermin44 119.9FGFR2, FGFR1, FGFR3
24ponatinib50 119.9FGFR3, FGFR1, FGFR2
25phenylalanine448.9FGFR2, FGFR1, FGFR3
26phosphotyrosine448.9FGFR3, FGFR1, FGFR2
27lysine448.9FGFR3, FGFR1, FGFR2
28oligonucleotide448.9FGFR3, FGFR1, FGFR2
29vegf448.9FGFR2, FGFR1, FGFR3
30threonine448.9FGFR3, FGFR1, FGFR2
31glutamate448.9FGFR2, FGFR1, FGFR3
32cysteine448.8FGFR3, FGFR1, FGFR2
33lipid448.8FGFR2, FGFR1, FGFR3
34serine448.7FGFR2, FGFR1, FGFR3
35tyrosine448.7FGFR2, FGFR1, FGFR3
36calcium44 50 24 1111.2FGFR3, FGFR1, FGFR2

GO Terms for genes affiliated with Jackson-Weiss Syndrome

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Cellular components related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.5FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.4FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:0058878.2FGFR3, FGFR1, FGFR2

Biological processes related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:0703079.7FGFR3, FGFR2
2negative regulation of mitosisGO:0458399.7FGFR3, FGFR2
3bone morphogenesisGO:0603499.7FGFR3, FGFR2
4negative regulation of epithelial cell proliferationGO:0506809.5FGFR2, FGFR3
5positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.5FGFR3, FGFR1
6positive regulation of canonical Wnt signaling pathwayGO:0902639.5FGFR3, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.4FGFR2, FGFR1
8ventricular zone neuroblast divisionGO:0218479.4FGFR2, FGFR1
9mesenchymal cell differentiationGO:0487629.4FGFR1, FGFR2
10chondrocyte differentiationGO:0020629.4FGFR1, FGFR3
11positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR3, FGFR2
12lung-associated mesenchyme developmentGO:0604849.4FGFR2, FGFR1
13branching involved in salivary gland morphogenesisGO:0604459.4FGFR1, FGFR2
14positive regulation of cardiac muscle cell proliferationGO:0600459.4FGFR1, FGFR2
15skeletal system morphogenesisGO:0487059.3FGFR1, FGFR2
16positive regulation of cell cycleGO:0457879.3FGFR2, FGFR1
17cell-cell signalingGO:0072679.3FGFR3, FGFR2
18midbrain developmentGO:0309019.3FGFR1, FGFR2
19positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
20ureteric bud developmentGO:0016579.3FGFR2, FGFR1
21MAPK cascadeGO:0001659.2FGFR1, FGFR3
22inner ear morphogenesisGO:0424729.2FGFR1, FGFR2
23skeletal system developmentGO:0015019.1FGFR3, FGFR1
24angiogenesisGO:0015258.9FGFR2, FGFR1
25positive regulation of phospholipase activityGO:0105188.9FGFR3, FGFR1, FGFR2
26positive regulation of MAPK cascadeGO:0434108.9FGFR3, FGFR1, FGFR2
27peptidyl-tyrosine phosphorylationGO:0181088.9FGFR3, FGFR1, FGFR2
28phosphatidylinositol-mediated signalingGO:0480158.9FGFR3, FGFR1, FGFR2
29insulin receptor signaling pathwayGO:0082868.9FGFR2, FGFR1, FGFR3
30protein autophosphorylationGO:0467778.9FGFR3, FGFR1, FGFR2
31fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR2, FGFR1, FGFR3
32Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR3, FGFR1, FGFR2
33epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR2, FGFR1, FGFR3
34neurotrophin TRK receptor signaling pathwayGO:0480118.9FGFR2, FGFR1, FGFR3
35positive regulation of cell proliferationGO:0082848.8FGFR2, FGFR1, FGFR3
36negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR3, FGFR1, FGFR2
37in utero embryonic developmentGO:0017018.7FGFR1, FGFR2
38innate immune responseGO:0450878.7FGFR3, FGFR1, FGFR2

Molecular functions related to Jackson-Weiss Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082018.7FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.5FGFR3, FGFR1, FGFR2
4ATP bindingGO:0055248.5FGFR3, FGFR1, FGFR2
5protein tyrosine kinase activityGO:0047138.4FGFR2, FGFR1, FGFR3

Products for genes affiliated with Jackson-Weiss Syndrome

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Sources for Jackson-Weiss 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