BGS
MCID: BLL001
MIFTS: 51

Baller-Gerold Syndrome (BGS) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Baller-Gerold Syndrome

Aliases & Descriptions for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 54 12 23 50 24 25 56 66 29 13 52 14 69
Craniosynostosis-Radial Aplasia Syndrome 50 25 66
Craniosynostosis with Radial Defects 50 25 66
Bgs 50 25 66
Craniosynostosis Radial Aplasia Syndrome 42

Characteristics:

Orphanet epidemiological data:

56
baller-gerold syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
baller-gerold syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 218600
Disease Ontology 12 DOID:0050654
SNOMED-CT 64 77608001
Orphanet 56 ORPHA1225
MESH via Orphanet 43 C536788
UMLS via Orphanet 70 C0265308
ICD10 via Orphanet 34 Q75.0
MedGen 40 C0265308
UMLS 69 C0265308

Summaries for Baller-Gerold Syndrome

NIH Rare Diseases : 50 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 hypertelorism, frontal bossing and high palate. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are DNA Double-Strand Break Repair and DNA Damage. Affiliated tissues include bone, kidney and heart, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Disease Ontology : 12 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

Genetics Home Reference : 25 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 : 66 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: 218600
GeneReviews: NBK1204

Related Diseases for Baller-Gerold Syndrome

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



Diseases related to Baller-Gerold Syndrome

Symptoms & Phenotypes for Baller-Gerold Syndrome

Symptoms by clinical synopsis from OMIM:

218600

Clinical features from OMIM:

218600

Human phenotypes related to Baller-Gerold Syndrome:

56 32 (show top 50) (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Occasional (29-5%) HP:0000316
2 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
3 high palate 56 32 Frequent (79-30%) HP:0000218
4 nystagmus 56 32 Occasional (29-5%) HP:0000639
5 scoliosis 56 32 Occasional (29-5%) HP:0002650
6 bowing of the long bones 56 32 Frequent (79-30%) HP:0006487
7 malabsorption 56 32 Frequent (79-30%) HP:0002024
8 short nose 56 32 Frequent (79-30%) HP:0003196
9 short stature 56 32 Very frequent (99-80%) HP:0004322
10 cleft palate 56 32 Occasional (29-5%) HP:0000175
11 micrognathia 56 32 Occasional (29-5%) HP:0000347
12 epicanthus 56 32 Occasional (29-5%) HP:0000286
13 prominent nasal bridge 56 32 Occasional (29-5%) HP:0000426
14 broad forehead 56 32 Occasional (29-5%) HP:0000337
15 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
16 abnormality of the metacarpal bones 56 32 Frequent (79-30%) HP:0001163
17 narrow face 56 32 Occasional (29-5%) HP:0000275
18 narrow mouth 56 32 Frequent (79-30%) HP:0000160
19 conductive hearing impairment 56 32 Occasional (29-5%) HP:0000405
20 anal atresia 56 32 Occasional (29-5%) HP:0002023
21 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
22 urogenital fistula 56 32 Occasional (29-5%) HP:0100589
23 lymphoma 56 32 Occasional (29-5%) HP:0002665
24 failure to thrive in infancy 56 32 Very frequent (99-80%) HP:0001531
25 abnormality of the cardiac septa 56 32 Occasional (29-5%) HP:0001671
26 proptosis 56 32 Very frequent (99-80%) HP:0000520
27 large fontanelles 56 32 Very frequent (99-80%) HP:0000239
28 narrow nasal bridge 56 32 Occasional (29-5%) HP:0000446
29 hypotelorism 56 32 Occasional (29-5%) HP:0000601
30 osteosarcoma 56 32 Occasional (29-5%) HP:0002669
31 anteriorly placed anus 56 32 Frequent (79-30%) HP:0001545
32 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
33 abnormal localization of kidney 56 32 Occasional (29-5%) HP:0100542
34 brachyturricephaly 56 32 Very frequent (99-80%) HP:0000244
35 aplasia/hypoplasia of the thumb 56 32 Very frequent (99-80%) HP:0009601
36 aplasia/hypoplasia of the patella 56 32 Frequent (79-30%) HP:0006498
37 aplasia/hypoplasia of the radius 56 32 Very frequent (99-80%) HP:0006501
38 abnormality of the carpal bones 56 32 Frequent (79-30%) HP:0001191
39 poikiloderma 56 32 Occasional (29-5%) HP:0001029
40 seizures 32 HP:0001250
41 agenesis of corpus callosum 32 HP:0001274
42 hydrocephalus 32 HP:0000238
43 intellectual disability 32 HP:0001249
44 abnormality of the vertebrae 32 HP:0003468
45 optic atrophy 32 HP:0000648
46 brachycephaly 56 Very frequent (99-80%)
47 strabismus 32 HP:0000486
48 growth delay 56 Very frequent (99-80%)
49 underdeveloped nasal alae 32 HP:0000430
50 myopia 32 HP:0000545

GenomeRNAi Phenotypes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 BRIP1 ERCC1 ERCC2 ERCC3 RECQL RECQL4

MGI Mouse Phenotypes related to Baller-Gerold Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 SALL1 TWIST1 TWNK WRN BRIP1 DDX11
2 growth/size/body region MP:0005378 10 CECR2 COL2A1 DDX11 ERCC1 ERCC2 ERCC3
3 mortality/aging MP:0010768 9.93 TWIST1 TWNK WRN CECR2 COL2A1 DDX11
4 embryo MP:0005380 9.92 CECR2 COL2A1 DDX11 ERCC1 RECQL4 SALL1
5 craniofacial MP:0005382 9.91 CECR2 COL2A1 ERCC3 FOXI1 RECQL4 TWIST1
6 neoplasm MP:0002006 9.43 BRIP1 ERCC1 ERCC2 ERCC3 RECQL4 WRN
7 skeleton MP:0005390 9.28 COL2A1 ERCC1 ERCC2 ERCC3 FOXI1 RECQL4

Drugs & Therapeutics for Baller-Gerold Syndrome

Search Clinical Trials , NIH Clinical Center for Baller-Gerold Syndrome

Cochrane evidence based reviews: craniosynostosis radial aplasia syndrome

Genetic Tests for Baller-Gerold Syndrome

Genetic tests related to Baller-Gerold Syndrome:

id Genetic test Affiliating Genes
1 Baller-Gerold Syndrome 29 24 RECQL4

Anatomical Context for Baller-Gerold Syndrome

MalaCards organs/tissues related to Baller-Gerold Syndrome:

39
Bone, Kidney, Heart

Publications for Baller-Gerold Syndrome

Articles related to Baller-Gerold Syndrome:

(show all 40)
id Title Authors Year
1
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. ( 25966250 )
2015
2
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. ( 24635570 )
2015
3
Baller-gerold syndrome a rare cause of heart-hand syndrome. ( 22347665 )
2011
4
Baller-Gerold syndrome associated with dextrocardia. ( 21614991 )
2011
5
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. ( 20196403 )
2009
6
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. ( 19291770 )
2009
7
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. ( 19753208 )
2008
8
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. ( 19966981 )
2008
9
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. ( 15789214 )
2006
10
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. ( 15964893 )
2006
11
Baller-Gerold syndrome after fetal exposure to sodium valproate. ( 15732083 )
2005
12
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. ( 14577674 )
2003
13
Baller-Gerold syndrome. ( 12557968 )
2002
14
Another TWIST on Baller-Gerold syndrome. ( 11754069 )
2001
15
A case of Baller-Gerold syndrome. ( 10327256 )
1999
16
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. ( 9934984 )
1999
17
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. ( 9856554 )
1998
18
Baller-Gerold syndrome associated with congenital portal venous malformation. ( 9733037 )
1998
19
Baller Gerold syndrome and Fanconi anaemia. ( 9450894 )
1998
20
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? ( 9786296 )
1998
21
Is there a Baller-Gerold syndrome? ( 8741920 )
1996
22
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. ( 8741921 )
1996
23
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. ( 8825173 )
1996
24
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. ( 8552221 )
1995
25
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. ( 7606324 )
1995
26
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. ( 8160763 )
1994
27
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. ( 7957363 )
1994
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: a postmortem examination. ( 8291562 )
1993
31
Baller-Gerold Syndrome ( 20301383 )
1993
32
The Baller-Gerold syndrome. ( 1583650 )
1992
33
Baller-Gerold syndrome: case report and clinical and radiological review. ( 1536180 )
1992
34
Baller-Gerold syndrome associated with congenital hydrocephalus. ( 1951434 )
1991
35
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). ( 2074565 )
1990
36
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. ( 2260585 )
1990
37
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. ( 2359099 )
1990
38
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. ( 7315870 )
1981
39
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. ( 7363501 )
1980
40
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. ( 517480 )
1979

Variations for Baller-Gerold Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 RECQL4 p.Arg1021Trp VAR_026591

ClinVar genetic disease variations for Baller-Gerold Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh37 Chromosome 8, 145738796: 145738796
2 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic/Likely pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
3 RECQL4 NM_004260.3(RECQL4): c.3061C> T (p.Arg1021Trp) single nucleotide variant Pathogenic rs137853232 GRCh37 Chromosome 8, 145737702: 145737702
4 RECQL4 NM_004260.3(RECQL4): c.3056-2A> C single nucleotide variant Pathogenic rs786200889 GRCh37 Chromosome 8, 145737709: 145737709
5 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
6 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh38 Chromosome 8, 144516070: 144516071
7 RECQL4 NM_004260.3(RECQL4): c.3072_3073delAG (p.Val1026Alafs) deletion Pathogenic rs771538008 GRCh37 Chromosome 8, 145737690: 145737691
8 RECQL4 NM_004260.3(RECQL4): c.2379_2380dupAA (p.Ser794Lysfs) duplication Pathogenic rs878854645 GRCh37 Chromosome 8, 145738684: 145738685
9 RECQL4 NM_004260.3(RECQL4): c.1816G> T (p.Glu606Ter) single nucleotide variant Pathogenic rs878854644 GRCh37 Chromosome 8, 145739635: 145739635
10 RECQL4 NM_004260.3(RECQL4): c.3502+1G> C single nucleotide variant Likely pathogenic rs757563486 GRCh38 Chromosome 8, 144511680: 144511680
11 RECQL4 NM_004260.3(RECQL4): c.1131_1131+3delGGTA deletion Pathogenic rs1060501353 GRCh38 Chromosome 8, 144515985: 144515988
12 RECQL4 NM_004260.3(RECQL4): c.2547_2548delGT (p.Phe850Profs) deletion Pathogenic rs778141083 GRCh38 Chromosome 8, 144513054: 144513055
13 RECQL4 NM_004260.3(RECQL4): c.1568_1573delGCCCCTinsCCCCC (p.Ser523Thrfs) indel Pathogenic rs1060501383 GRCh37 Chromosome 8, 145740367: 145740372
14 RECQL4 NM_004260.3(RECQL4): c.1015delC (p.Leu339Cysfs) deletion Pathogenic rs1060501384 GRCh38 Chromosome 8, 144516104: 144516104
15 RECQL4 NM_004260.3(RECQL4): c.805delT (p.Trp269Glyfs) deletion Pathogenic rs1060501370 GRCh37 Chromosome 8, 145741698: 145741698

Expression for Baller-Gerold Syndrome

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

Pathways for Baller-Gerold Syndrome

GO Terms for Baller-Gerold Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 BRIP1 CECR2 DDX11 ERCC1 ERCC2 ERCC3
2 chromosome GO:0005694 9.65 DDX11 RECQL RECQL4 RECQL5 WRN
3 holo TFIIH complex GO:0005675 9.37 ERCC2 ERCC3
4 nucleoplasm GO:0005654 9.36 BRIP1 DDX11 ERCC1 ERCC2 ERCC3 FANCB
5 transcription factor TFIID complex GO:0005669 9.33 ERCC1 ERCC2 ERCC3
6 core TFIIH complex GO:0000439 9.32 ERCC2 ERCC3

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.81 ERCC1 ERCC2 ERCC3 WRN
2 transcription-coupled nucleotide-excision repair GO:0006283 9.78 ERCC1 ERCC2 ERCC3
3 double-strand break repair GO:0006302 9.77 BRIP1 ERCC1 WRN
4 cellular response to DNA damage stimulus GO:0006974 9.76 BRIP1 DDX11 ERCC1 ERCC2 ERCC3 FANCB
5 nucleotide-excision repair GO:0006289 9.73 ERCC1 ERCC2 ERCC3
6 double-strand break repair via homologous recombination GO:0000724 9.73 RECQL RECQL4 RECQL5 WRN
7 DNA replication GO:0006260 9.73 BRIP1 DDX11 RECQL4 RECQL5 TWNK WRN
8 nucleotide-excision repair, DNA incision GO:0033683 9.72 ERCC1 ERCC2 ERCC3
9 DNA recombination GO:0006310 9.72 ERCC1 RECQL RECQL4 RECQL5 WRN
10 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.71 ERCC1 ERCC2 ERCC3
11 embryonic organ development GO:0048568 9.7 ERCC1 ERCC2 ERCC3
12 global genome nucleotide-excision repair GO:0070911 9.67 ERCC1 ERCC2 ERCC3
13 nucleobase-containing compound metabolic process GO:0006139 9.67 BRIP1 DDX11 ERCC2 WRN
14 transcription elongation from RNA polymerase I promoter GO:0006362 9.66 ERCC2 ERCC3
15 termination of RNA polymerase I transcription GO:0006363 9.65 ERCC2 ERCC3
16 nucleotide-excision repair, preincision complex assembly GO:0006294 9.65 ERCC2 ERCC3
17 replication fork processing GO:0031297 9.65 DDX11 WRN
18 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.65 ERCC1 ERCC2 ERCC3
19 DNA repair GO:0006281 9.65 BRIP1 DDX11 ERCC1 ERCC2 ERCC3 FANCB
20 strand displacement GO:0000732 9.64 BRIP1 WRN
21 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.64 ERCC2 ERCC3
22 multicellular organism aging GO:0010259 9.63 ERCC1 WRN
23 t-circle formation GO:0090656 9.63 ERCC1 WRN
24 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.63 ERCC1 ERCC2 ERCC3
25 outer ear morphogenesis GO:0042473 9.62 SALL1 TWIST1
26 DNA strand renaturation GO:0000733 9.62 RECQL RECQL4
27 telomeric D-loop disassembly GO:0061820 9.61 RECQL4 WRN
28 regulation of mitotic cell cycle phase transition GO:1901990 9.6 ERCC2 ERCC3
29 hair cell differentiation GO:0035315 9.58 ERCC2 ERCC3
30 G-quadruplex DNA unwinding GO:0044806 9.58 DDX11 WRN
31 UV protection GO:0009650 9.58 ERCC1 ERCC2 ERCC3
32 replicative cell aging GO:0001302 9.57 ERCC1 WRN
33 DNA duplex unwinding GO:0032508 9.17 BRIP1 DDX11 ERCC2 RECQL RECQL4 RECQL5

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 9.78 DDX11 ERCC1 TWNK
2 iron-sulfur cluster binding GO:0051536 9.75 BRIP1 DDX11 ERCC2
3 4 iron, 4 sulfur cluster binding GO:0051539 9.71 BRIP1 DDX11 ERCC2
4 DNA-dependent ATPase activity GO:0008094 9.69 DDX11 ERCC2 ERCC3
5 DNA helicase activity GO:0003678 9.67 RECQL RECQL5 TWNK WRN
6 ATP-dependent DNA helicase activity GO:0004003 9.63 BRIP1 DDX11 ERCC2 ERCC3 RECQL WRN
7 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.62 RECQL RECQL4 RECQL5 WRN
8 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.61 ERCC2 ERCC3
9 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.61 BRIP1 DDX11 ERCC2
10 helicase activity GO:0004386 9.61 BRIP1 DDX11 ERCC2 ERCC3 RECQL RECQL4
11 oxidized purine DNA binding GO:0032357 9.6 RECQL4 WRN
12 G-quadruplex DNA binding GO:0051880 9.59 DDX11 WRN
13 annealing helicase activity GO:0036310 9.58 RECQL RECQL4
14 3-5 DNA helicase activity GO:0043138 9.57 ERCC3 WRN
15 bubble DNA binding GO:0000405 9.56 RECQL4 WRN
16 four-way junction helicase activity GO:0009378 9.56 RECQL RECQL4 RECQL5 WRN
17 telomeric D-loop binding GO:0061821 9.55 RECQL4 WRN
18 5-3 DNA helicase activity GO:0043139 9.52 ERCC2 TWNK
19 ATP-dependent helicase activity GO:0008026 9.17 BRIP1 DDX11 ERCC2 RECQL RECQL4 RECQL5
20 DNA binding GO:0003677 10.14 BRIP1 DDX11 ERCC1 ERCC2 ERCC3 FOXI1
21 hydrolase activity GO:0016787 10.13 BRIP1 DDX11 ERCC1 ERCC2 ERCC3 RECQL
22 ATP binding GO:0005524 10.11 BRIP1 DDX11 ERCC2 ERCC3 RECQL RECQL4
23 nucleic acid binding GO:0003676 10.04 BRIP1 DDX11 ERCC2 RECQL RECQL5 SALL1

Sources for Baller-Gerold Syndrome

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