MCID: BLL001
MIFTS: 54

Baller-Gerold Syndrome malady

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

Aliases & Classifications for Baller-Gerold Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 49 10 11 21 45 22 23 47 12 51 24 65 67
Craniosynostosis-Radial Aplasia Syndrome 45 23 67
Craniosynostosis with Radial Defects 45 23 67
 
Bgs 45 23 67
Craniosynostosis Radial Aplasia Syndrome 36


Classifications:



Characteristics (Orphanet epidemiological data):

51
baller-gerold syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 218600
Disease Ontology10 DOID:0050654
Orphanet51 1225
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C536788
UMLS via Orphanet66 C0265308
MedGen34 C0265308

Summaries for Baller-Gerold Syndrome

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NIH Rare Diseases:45 Baller-gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. many cases of baller-gerold syndrome are caused by mutations in the recql4 gene. these cases are inherited in an autosomal recessive manner. in a few reported cases, the characteristic features of baller-gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders.  treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. the symptoms of baller-gerold syndrome overlap with features of rothmund-thomson syndrome and rapadilino syndrome which are also caused by the recql4 gene. researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms. last updated: 5/25/2011

MalaCards based summary: Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to craniosynostosis and hydrocephalus, and has symptoms including abnormality of the fontanelles or cranial sutures, proptosis and split hand. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Helicase-Like 4), and among its related pathways are Cytosolic iron-sulfur cluster assembly and Fanconi anemia pathway. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:10 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

Genetics Home Reference:23 Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.

UniProtKB/Swiss-Prot:67 Baller-Gerold syndrome: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.

Description from OMIM:49 218600

GeneReviews summary for bgs

Related Diseases for Baller-Gerold Syndrome

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Diseases related to Baller-Gerold Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis10.8
2hydrocephalus10.6
3roberts syndrome10.4
4vacterl association10.4
5dextrocardia10.4
6congenital hydrocephalus10.4
7lymphoblastic lymphoma10.2
8wallerian degeneration10.2
9trichothiodystrophy 1, photosensitive10.1ERCC2, ERCC3
10arthrogryposis, renal dysfunction, and cholestasis 110.0RECQL, RECQL4, WRN
11cerebrocostomandibular-like syndrome10.0ERCC1, ERCC2, ERCC3
12parkinson disease 1010.0
13parkinson disease, late-onset10.0
14chediak-higashi syndrome10.0
15diabetes mellitus, noninsulin-dependent10.0
16diabetes mellitus, noninsulin-dependent 110.0
17parkinson disease 510.0
18parkinson disease 110.0
19osteoporosis10.0
20mody, type ii10.0
21wolff-parkinson-white syndrome10.0
22parkinson disease 810.0
23diabetes mellitus, insulin-dependent10.0
24diabetes mellitus, noninsulin-dependent, 210.0
25mody, type i10.0
26diphtheria10.0
27secondary syphilis10.0
28adrenal cortex disease10.0
29basal ganglia disease10.0
30glucose metabolism disease10.0
31movement disease10.0
32marchiafava bignami disease10.0
33diaphragmatic eventration10.0MNX1, RECQL4, SALL1, TWIST1
34xeroderma pigmentosum, group c10.0ERCC2, ERCC3, RECQL
35congenital stationary night blindness10.0ERCC2, ERCC3
36cerebrooculofacioskeletal syndrome 210.0BRIP1, ERCC1, ERCC2, ERCC3
37xeroderma pigmentosum, group b9.9DNAH8, ERCC2, ERCC3
38xeroderma pigmentosum, variant type9.9ERCC1, ERCC2, ERCC3, RECQL
39mental retardation, autosomal recessive 459.9BRIP1, DDX11, ERCC1, ERCC2, FANCB
40rothmund-thomson syndrome9.8RECQL, RECQL4, RECQL5, WRN
41rapadilino syndrome9.8FERMT1, RECQL, RECQL4, RECQL5, WRN
42benign breast phyllodes tumor9.7DNAH8, ERCC1, ERCC2, ERCC3
43werner syndrome9.6DNAH8, RECQL, RECQL4, RECQL5, WRN
44baller-gerold syndrome7.7BRIP1, C10orf2, CECR2, COL2A1, DDX11, DNAH8

Graphical network of the top 20 diseases related to Baller-Gerold Syndrome:



Diseases related to baller-gerold syndrome

Symptoms for Baller-Gerold Syndrome

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Symptoms by clinical synopsis from OMIM:

218600

Clinical features from OMIM:

218600

Symptoms:

 51 (show all 43)
  • turricephaly/oxycephaly/acrocephaly
  • brachycephaly/flat occiput
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • proptosis/exophthalmos
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • oligodactyly/ectrodactyly of fingers
  • thumb hypoplasia/aplasia/absence
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nasal atrophy/hypoplasia/arhinia/rudimentary nose
  • microstomia/little mouth
  • high vaulted/narrow palate
  • wrist/carpal anomalies
  • metacarpal anomalies/archibald's sign
  • patella absent/abnormal (excluding luxation)
  • anus ectopia/anteposition/malposition
  • malabsorption/chronic diarrhea/steatorrhea
  • bowed diaphysis/diaphyses/long bones
  • intrauterine growth retardation
  • broad forehead
  • narrow face
  • hypertelorism
  • hypotelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • nystagmus
  • epicanthic folds
  • high nasal bridge
  • narrow nasal root
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • conductive deafness/hearing loss
  • scoliosis
  • telangiectasic erythema/poikiloderma
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • cardiac septal defect
  • ectopic/horseshoe/fused kidneys
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • urogenital fistulae
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • lymphoma

HPO human phenotypes related to Baller-Gerold Syndrome:

(show all 86)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 proptosis hallmark (90%) HP:0000520
3 split hand hallmark (90%) HP:0001171
4 frontal bossing hallmark (90%) HP:0002007
5 short stature hallmark (90%) HP:0004322
6 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
7 narrow mouth typical (50%) HP:0000160
8 intrauterine growth retardation typical (50%) HP:0001511
9 malabsorption typical (50%) HP:0002024
10 ectopic anus typical (50%) HP:0004397
11 patellar aplasia typical (50%) HP:0006443
12 bowing of the long bones typical (50%) HP:0006487
13 aplasia/hypoplasia involving the nose typical (50%) HP:0009924
14 vesicoureteral reflux occasional (7.5%) HP:0000076
15 cleft palate occasional (7.5%) HP:0000175
16 narrow face occasional (7.5%) HP:0000275
17 epicanthus occasional (7.5%) HP:0000286
18 hypertelorism occasional (7.5%) HP:0000316
19 broad forehead occasional (7.5%) HP:0000337
20 micrognathia occasional (7.5%) HP:0000347
21 conductive hearing impairment occasional (7.5%) HP:0000405
22 prominent nasal bridge occasional (7.5%) HP:0000426
23 narrow nasal bridge occasional (7.5%) HP:0000446
24 hypotelorism occasional (7.5%) HP:0000601
25 nystagmus occasional (7.5%) HP:0000639
26 poikiloderma occasional (7.5%) HP:0001029
27 abnormality of the cardiac septa occasional (7.5%) HP:0001671
28 scoliosis occasional (7.5%) HP:0002650
29 lymphoma occasional (7.5%) HP:0002665
30 neoplasm of the skeletal system occasional (7.5%) HP:0010622
31 abnormal localization of kidney occasional (7.5%) HP:0100542
32 urogenital fistula occasional (7.5%) HP:0100589
33 autosomal recessive inheritance HP:0000007
34 abnormality of the kidney HP:0000077
35 rectovaginal fistula HP:0000143
36 narrow mouth HP:0000160
37 cleft palate HP:0000175
38 bifid uvula HP:0000193
39 high palate HP:0000218
40 hydrocephalus HP:0000238
41 brachyturricephaly HP:0000244
42 epicanthus HP:0000286
43 hypertelorism HP:0000316
44 micrognathia HP:0000347
45 low-set, posteriorly rotated ears HP:0000368
46 conductive hearing impairment HP:0000405
47 prominent nasal bridge HP:0000426
48 underdeveloped nasal alae HP:0000430
49 choanal stenosis HP:0000452
50 strabismus HP:0000486
51 downslanted palpebral fissures HP:0000494
52 myopia HP:0000545
53 optic atrophy HP:0000648
54 rib fusion HP:0000902
55 intellectual disability HP:0001249
56 seizures HP:0001250
57 agenesis of corpus callosum HP:0001274
58 anteriorly placed anus HP:0001545
59 anal atresia HP:0002023
60 polymicrogyria HP:0002126
61 malformation of the heart and great vessels HP:0002564
62 scoliosis HP:0002650
63 hypoplasia of the radius HP:0002984
64 limited elbow movement HP:0002996
65 hypoplasia of the ulna HP:0003022
66 ulnar bowing HP:0003031
67 patellar hypoplasia HP:0003065
68 spina bifida occulta HP:0003298
69 abnormality of the vertebrae HP:0003468
70 absent radius HP:0003974
71 carpal bone aplasia HP:0004231
72 short stature HP:0004322
73 flat forehead HP:0004425
74 coronal craniosynostosis HP:0004440
75 sagittal craniosynostosis HP:0004442
76 lambdoidal craniosynostosis HP:0004443
77 perineal fistula HP:0004871
78 anomalous splenoportal venous system HP:0005201
79 short humerus HP:0005792
80 aphalangy of the hands HP:0005886
81 limited shoulder movement HP:0006467
82 midface capillary hemangioma HP:0007452
83 aplasia/hypoplasia of the thumb HP:0009601
84 carpal synostosis HP:0009702
85 aplasia of metacarpal bones HP:0010048
86 bicoronal synostosis HP:0011318

Drugs & Therapeutics for Baller-Gerold Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Baller-Gerold Syndrome


Cochrane evidence based reviews: Craniosynostosis radial aplasia syndrome

Genetic Tests for Baller-Gerold Syndrome

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Genetic tests related to Baller-Gerold Syndrome:

id Genetic test Affiliating Genes
1 Baller-Gerold Syndrome22 24 RECQL4

Anatomical Context for Baller-Gerold Syndrome

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MalaCards organs/tissues related to Baller-Gerold Syndrome:

33
Bone, Kidney, Heart

Animal Models for Baller-Gerold Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0COL2A1, MYCN, RECQL4, SALL1, TWIST1, WRN
2MP:00053828.3CECR2, COL2A1, ERCC3, FOXI1, MYCN, RECQL4
3MP:00053818.2COL2A1, FERMT1, MNX1, MYCN, RECQL4, SALL1
4MP:00053858.1C10orf2, COL2A1, DDX11, MNX1, MYCN, SALL1
5MP:00053807.8C10orf2, CECR2, COL2A1, DDX11, ERCC1, MYCN
6MP:00053907.2COL2A1, ERCC1, ERCC2, ERCC3, FOXI1, MNX1
7MP:00053867.0COL2A1, ERCC1, ERCC2, ERCC3, FOXI1, MNX1
8MP:00053786.8COL2A1, DDX11, ERCC1, ERCC2, ERCC3, FERMT1
9MP:00053845.8C10orf2, DDX11, ERCC1, ERCC2, ERCC3, FERMT1
10MP:00107685.7C10orf2, CECR2, COL2A1, DDX11, ERCC1, ERCC2

Publications for Baller-Gerold Syndrome

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Articles related to Baller-Gerold Syndrome:

(show all 38)
idTitleAuthorsYear
1
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. (25966250)
2015
2
Baller-gerold syndrome a rare cause of heart-hand syndrome. (22347665)
2011
3
Baller-Gerold syndrome associated with dextrocardia. (21614991)
2011
4
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. (20196403)
2009
5
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. (19291770)
2009
6
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. (19966981)
2008
7
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. (19753208)
2008
8
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (15964893)
2006
9
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. (15789214)
2006
10
Baller-Gerold syndrome after fetal exposure to sodium valproate. (15732083)
2005
11
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. (14577674)
2003
12
Baller-Gerold syndrome. (12557968)
2002
13
Another TWIST on Baller-Gerold syndrome. (11754069)
2001
14
A case of Baller-Gerold syndrome. (10327256)
1999
15
Baller-Gerold syndrome associated with congenital portal venous malformation. (9733037)
1998
16
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? (9786296)
1998
17
Baller Gerold syndrome and Fanconi anaemia. (9450894)
1998
18
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. (9856554)
1998
19
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
20
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. (8825173)
1996
21
Is there a Baller-Gerold syndrome? (8741920)
1996
22
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. (8552221)
1995
23
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. (7606324)
1995
24
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (8160763)
1994
25
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. (7957363)
1994
26
Baller-Gerold syndrome: a postmortem examination. (8291562)
1993
27
Baller-Gerold Syndrome (20301383)
1993
28
Further delineation of the Baller-Gerold syndrome. (8465861)
1993
29
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. (8349962)
1993
30
Baller-Gerold syndrome: case report and clinical and radiological review. (1536180)
1992
31
The Baller-Gerold syndrome. (1583650)
1992
32
Baller-Gerold syndrome associated with congenital hydrocephalus. (1951434)
1991
33
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). (2074565)
1990
34
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. (2260585)
1990
35
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
36
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. (7315870)
1981
37
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. (7363501)
1980
38
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. (517480)
1979

Variations for Baller-Gerold Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Baller-Gerold Syndrome:

67
id Symbol AA change Variation ID SNP ID
1RECQL4p.Arg1021TrpVAR_026591

Clinvar genetic disease variations for Baller-Gerold Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
2RECQL4NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)single nucleotide variantPathogenicrs137853232GRCh37Chr 8, 145737702: 145737702
3RECQL4NM_004260.3(RECQL4): c.3056-2A> Csingle nucleotide variantPathogenicrs786200889GRCh37Chr 8, 145737709: 145737709

Expression for genes affiliated with Baller-Gerold Syndrome

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Search GEO for disease gene expression data for Baller-Gerold Syndrome.

Pathways for genes affiliated with Baller-Gerold Syndrome

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GO Terms for genes affiliated with Baller-Gerold Syndrome

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Cellular components related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.7ERCC2, ERCC3
2holo TFIIH complexGO:000567510.6ERCC2, ERCC3
3nucleoplasmGO:00056547.4BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB
4nucleusGO:00056345.3BRIP1, CECR2, DDX11, ERCC1, ERCC2, ERCC3

Biological processes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1DNA strand renaturationGO:000073310.6RECQL, RECQL4
2hindlimb morphogenesisGO:003513710.6SALL1, TWIST1
3outer ear morphogenesisGO:004247310.6SALL1, TWIST1
4regulation of mitotic cell cycle phase transitionGO:190199010.5ERCC2, ERCC3
5hair cell differentiationGO:003531510.5ERCC2, ERCC3
6replicative cell agingGO:000130210.4ERCC1, WRN
7double-strand break repair via synthesis-dependent strand annealingGO:004500310.1BRIP1, WRN
8UV protectionGO:000965010.1ERCC1, ERCC2, ERCC3
9multicellular organismal agingGO:001025910.0ERCC1, WRN
10transcription-coupled nucleotide-excision repairGO:00062839.9ERCC1, ERCC2, ERCC3
11nucleobase-containing compound metabolic processGO:00061399.9BRIP1, DDX11, ERCC2, WRN
12neural tube closureGO:00018439.8CECR2, SALL1, TWIST1
13nucleotide-excision repair, DNA damage removalGO:00007189.8ERCC1, ERCC2, ERCC3
14nucleotide-excision repairGO:00062899.8ERCC1, ERCC2, ERCC3
15nucleotide-excision repair, DNA incisionGO:00336839.7ERCC1, ERCC2, ERCC3
16global genome nucleotide-excision repairGO:00709119.7ERCC1, ERCC2, ERCC3
17response to oxidative stressGO:00069799.2ERCC1, ERCC2, ERCC3, WRN
18DNA recombinationGO:00063109.1ERCC1, RECQL, RECQL4, RECQL5, WRN
19DNA replicationGO:00062608.5C10orf2, RECQL, RECQL4, RECQL5, WRN
20DNA duplex unwindingGO:00325088.4BRIP1, DDX11, ERCC2, RECQL, RECQL4, RECQL5
21DNA repairGO:00062817.6BRIP1, ERCC1, ERCC2, ERCC3, FANCB, RECQL

Molecular functions related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1annealing helicase activityGO:003631010.7RECQL, RECQL4
2bubble DNA bindingGO:000040510.7RECQL4, WRN
33-5 DNA helicase activityGO:004313810.6ERCC3, WRN
4ATP-dependent 3-5 DNA helicase activityGO:004314010.5RECQL, RECQL4, WRN
5RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.4ERCC2, ERCC3
65-3 DNA helicase activityGO:004313910.3C10orf2, ERCC2
7hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:001681810.2BRIP1, DDX11, ERCC2
8single-stranded DNA bindingGO:000369710.1C10orf2, DDX11, ERCC1
94 iron, 4 sulfur cluster bindingGO:005153910.1BRIP1, DDX11, ERCC2
10DNA-dependent ATPase activityGO:000809410.1DDX11, ERCC2, ERCC3
11ATP-dependent DNA helicase activityGO:00040039.5BRIP1, DDX11, ERCC2, ERCC3, RECQL, WRN
12DNA helicase activityGO:00036789.3C10orf2, RECQL, RECQL5, WRN
13ATP-dependent helicase activityGO:00080268.7BRIP1, DDX11, ERCC2, RECQL, RECQL4, RECQL5
14nucleic acid bindingGO:00036768.4BRIP1, DDX11, ERCC2, RECQL, RECQL4, RECQL5
15DNA bindingGO:00036777.5BRIP1, DDX11, ERCC1, ERCC2, ERCC3, MNX1
16ATP bindingGO:00055247.1BRIP1, C10orf2, DDX11, DNAH8, ERCC2, ERCC3

Sources for Baller-Gerold 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