MCID: ATS307
MIFTS: 28

Autosomal Recessive Cerebellar Ataxia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Recessive Cerebellar Ataxia:

Name: Autosomal Recessive Cerebellar Ataxia 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050950

Summaries for Autosomal Recessive Cerebellar Ataxia

Disease Ontology : 12 A hereditary ataxia that has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Cerebellar Ataxia is related to spinocerebellar ataxia, autosomal recessive 10 and spinocerebellar ataxia, autosomal recessive 1. An important gene associated with Autosomal Recessive Cerebellar Ataxia is ANO10 (Anoctamin 10). Affiliated tissues include eye, and related phenotypes are Increased vaccinia virus (VACV) infection and homeostasis/metabolism

Related Diseases for Autosomal Recessive Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Congenital Cerebellar Ataxia Due to Rnu12 Mutation

Diseases related to Autosomal Recessive Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 10 33.2 ANO10 SYNE1
2 spinocerebellar ataxia, autosomal recessive 1 32.0 AFP SETX
3 spinocerebellar ataxia, autosomal recessive 21 31.6 GBA2 SPG7 UBA5
4 spastic ataxia, charlevoix-saguenay type 31.5 FXN SETX
5 aceruloplasminemia 29.5 ANO10 ATM COQ8A FXN GBA2 SETX
6 autosomal recessive cerebellar ataxia with late-onset spasticity 12.3
7 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.3
8 spinocerebellar ataxia, autosomal recessive 8 12.2
9 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.0
10 coenzyme q10 deficiency, primary, 4 11.5
11 spinocerebellar ataxia, autosomal recessive 14 11.5
12 spinocerebellar ataxia, autosomal recessive 3 11.4
13 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3
14 spinocerebellar ataxia, autosomal recessive 4 11.2
15 spinocerebellar ataxia, autosomal recessive 11 11.2
16 spinocerebellar ataxia, autosomal recessive 12 11.2
17 spinocerebellar ataxia, autosomal recessive 15 11.2
18 spinocerebellar ataxia, autosomal recessive 16 11.2
19 spinocerebellar ataxia, autosomal recessive 17 11.2
20 spinocerebellar ataxia, autosomal recessive 23 11.2
21 marinesco-sjogren syndrome 11.1
22 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11.1
23 cerebellar ataxia, mental retardation and dysequlibrium syndrome 11.1
24 harding ataxia 11.1
25 apraxia 10.3
26 spinocerebellar ataxia 20 10.3 SNX14 SPTBN2
27 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.3 SETX SPTBN2
28 ataxia and polyneuropathy, adult-onset 10.3
29 spinocerebellar ataxia 15 10.2 SPTBN2 STUB1
30 proximal spinal muscular atrophy 10.2 SETX SPG7
31 epilepsy 10.2
32 spinocerebellar ataxia 8 10.1 SYNE1 TWNK
33 spastic paraplegia 49, autosomal recessive 10.1 SNX14 SPG7
34 cerebral palsy, ataxic, autosomal recessive 10.1 SPTBN2 VLDLR
35 multiple sclerosis 10.0
36 ataxia-telangiectasia 10.0
37 cerebellar hypoplasia 10.0
38 alacrima, achalasia, and mental retardation syndrome 10.0
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
40 spastic ataxia 10.0
41 paraplegia 10.0
42 fundus dystrophy 10.0
43 neuropathy 10.0
44 supranuclear ocular palsy 10.0
45 spasticity 10.0
46 spastic paraplegia 73, autosomal dominant 10.0 GBA2 SPG7 UBA5
47 spastic paraplegia 76, autosomal recessive 10.0 GBA2 SPG7 UBA5
48 cerebellar disease 9.9 ATM COQ8A SETX SPTBN2
49 autosomal dominant cerebellar ataxia 9.9 FXN SPTBN2 TDP1
50 vitamin e, familial isolated deficiency of 9.7 AFP FXN SETX SPG7

Graphical network of the top 20 diseases related to Autosomal Recessive Cerebellar Ataxia:



Diseases related to Autosomal Recessive Cerebellar Ataxia

Symptoms & Phenotypes for Autosomal Recessive Cerebellar Ataxia

GenomeRNAi Phenotypes related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 AFP ANO10 ATM COQ8A CWF19L1 FXN

MGI Mouse Phenotypes related to Autosomal Recessive Cerebellar Ataxia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 AFP ANO10 ATM FXN GBA2 SETX

Drugs & Therapeutics for Autosomal Recessive Cerebellar Ataxia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Active, not recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Autosomal Recessive Cerebellar Ataxia

Genetic Tests for Autosomal Recessive Cerebellar Ataxia

Anatomical Context for Autosomal Recessive Cerebellar Ataxia

MalaCards organs/tissues related to Autosomal Recessive Cerebellar Ataxia:

42
Eye

Publications for Autosomal Recessive Cerebellar Ataxia

Articles related to Autosomal Recessive Cerebellar Ataxia:

(show all 41)
# Title Authors Year
1
PEX10-related autosomal recessive cerebellar ataxia with hearing loss. ( 30022445 )
2018
2
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. ( 30275942 )
2018
3
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. ( 28558379 )
2017
4
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
5
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub>Deficiency in a Female Sib-Pair. ( 29159460 )
2017
6
A novel frameshift mutation of<i>SYNE1</i>in a Japanese family with autosomal recessive cerebellar ataxia type 8. ( 29081981 )
2017
7
Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship. ( 30838263 )
2017
8
Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation. ( 27045840 )
2016
9
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia. ( 26872069 )
2016
10
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. ( 26657514 )
2016
11
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. ( 26657516 )
2016
12
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. ( 26197978 )
2016
13
A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I. ( 25843669 )
2015
14
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply. ( 25664551 )
2015
15
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene. ( 25664549 )
2015
16
Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutations: Delineation and Genotype-Phenotype Correlation Study. ( 25089919 )
2014
17
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. ( 25122145 )
2014
18
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. ( 25439728 )
2014
19
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. ( 24719489 )
2014
20
Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia. ( 24312598 )
2013
21
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. ( 23332917 )
2013
22
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families. ( 24102492 )
2013
23
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. ( 23857099 )
2013
24
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. ( 24218524 )
2013
25
SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia. ( 23959263 )
2013
26
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. ( 24369382 )
2013
27
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. ( 22008874 )
2012
28
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. ( 21576695 )
2011
29
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. ( 21392394 )
2011
30
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. ( 21092923 )
2010
31
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). ( 19332571 )
2009
32
A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. ( 18405395 )
2008
33
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. ( 17503513 )
2007
34
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. ( 17159980 )
2007
35
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. ( 15642921 )
2005
36
A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11. ( 15996219 )
2005
37
Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy. ( 11860984 )
2002
38
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. ( 11391656 )
2001
39
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. ( 10751248 )
2000
40
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. ( 11022012 )
2000
41
SYNE1-Related Autosomal Recessive Cerebellar Ataxia ( 20301553 )
1993

Variations for Autosomal Recessive Cerebellar Ataxia

ClinVar genetic disease variations for Autosomal Recessive Cerebellar Ataxia:

6 (show top 50) (show all 422)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh37 Chromosome 10, 102749139: 102749139
2 TWNK NM_021830.4(TWNK): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs556445621 GRCh38 Chromosome 10, 100989382: 100989382
3 COQ8A NM_020247.4(COQ8A): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs76249490 GRCh37 Chromosome 1, 227152761: 227152761
4 COQ8A NM_020247.4(COQ8A): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs76249490 GRCh38 Chromosome 1, 226965060: 226965060
5 COQ8A NM_020247.4(COQ8A): c.697G> A (p.Ala233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376462712 GRCh37 Chromosome 1, 227165191: 227165191
6 COQ8A NM_020247.4(COQ8A): c.697G> A (p.Ala233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs376462712 GRCh38 Chromosome 1, 226977490: 226977490
7 COQ8A NM_020247.4(COQ8A): c.1914C> T (p.Ser638=) single nucleotide variant Benign/Likely benign rs56043893 GRCh37 Chromosome 1, 227174408: 227174408
8 COQ8A NM_020247.4(COQ8A): c.1914C> T (p.Ser638=) single nucleotide variant Benign/Likely benign rs56043893 GRCh38 Chromosome 1, 226986707: 226986707
9 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh38 Chromosome 10, 100990973: 100990973
10 TWNK NM_021830.4(TWNK): c.1697A> G (p.Lys566Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs116046810 GRCh37 Chromosome 10, 102750730: 102750730
11 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh38 Chromosome 10, 100993430: 100993430
12 TWNK NM_021830.4(TWNK): c.1975G> A (p.Ala659Thr) single nucleotide variant Uncertain significance rs370814108 GRCh37 Chromosome 10, 102753187: 102753187
13 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh38 Chromosome 10, 100993500: 100993500
14 TWNK NM_021830.4(TWNK): c.2045G> A (p.Arg682His) single nucleotide variant Likely benign rs182559752 GRCh37 Chromosome 10, 102753257: 102753257
15 COQ8A NM_020247.4(COQ8A): c.993C> T (p.Phe331=) single nucleotide variant Conflicting interpretations of pathogenicity rs41303129 GRCh37 Chromosome 1, 227170648: 227170648
16 COQ8A NM_020247.4(COQ8A): c.993C> T (p.Phe331=) single nucleotide variant Conflicting interpretations of pathogenicity rs41303129 GRCh38 Chromosome 1, 226982947: 226982947
17 ANO10 NM_018075.4(ANO10): c.1066A> G (p.Ser356Gly) single nucleotide variant Benign/Likely benign rs56389778 GRCh37 Chromosome 3, 43618280: 43618280
18 ANO10 NM_018075.4(ANO10): c.1066A> G (p.Ser356Gly) single nucleotide variant Benign/Likely benign rs56389778 GRCh38 Chromosome 3, 43576788: 43576788
19 ANO10 NM_018075.4(ANO10): c.1385G> A (p.Arg462Gln) single nucleotide variant Benign rs3772165 GRCh37 Chromosome 3, 43602803: 43602803
20 COQ8A NM_020247.4(COQ8A): c.117G> A (p.Ala39=) single nucleotide variant Benign rs11549708 GRCh37 Chromosome 1, 227149203: 227149203
21 COQ8A NM_020247.4(COQ8A): c.117G> A (p.Ala39=) single nucleotide variant Benign rs11549708 GRCh38 Chromosome 1, 226961502: 226961502
22 COQ8A NM_020247.4(COQ8A): c.1440C> T (p.Phe480=) single nucleotide variant Benign rs12593 GRCh37 Chromosome 1, 227172290: 227172290
23 COQ8A NM_020247.4(COQ8A): c.1440C> T (p.Phe480=) single nucleotide variant Benign rs12593 GRCh38 Chromosome 1, 226984589: 226984589
24 COQ8A NM_020247.4(COQ8A): c.1716T> C (p.Ser572=) single nucleotide variant Benign rs3738725 GRCh37 Chromosome 1, 227174210: 227174210
25 COQ8A NM_020247.4(COQ8A): c.1716T> C (p.Ser572=) single nucleotide variant Benign rs3738725 GRCh38 Chromosome 1, 226986509: 226986509
26 ANO10 NM_018075.4(ANO10): c.1385G> A (p.Arg462Gln) single nucleotide variant Benign rs3772165 GRCh38 Chromosome 3, 43561311: 43561311
27 ANO10 NM_018075.4(ANO10): c.1682C> T (p.Thr561Met) single nucleotide variant Benign/Likely benign rs17409162 GRCh37 Chromosome 3, 43591327: 43591327
28 ANO10 NM_018075.4(ANO10): c.1682C> T (p.Thr561Met) single nucleotide variant Benign/Likely benign rs17409162 GRCh38 Chromosome 3, 43549835: 43549835
29 COQ8A NM_020247.4(COQ8A): c.63G> A (p.Ala21=) single nucleotide variant Conflicting interpretations of pathogenicity rs11549709 GRCh37 Chromosome 1, 227149149: 227149149
30 COQ8A NM_020247.4(COQ8A): c.63G> A (p.Ala21=) single nucleotide variant Conflicting interpretations of pathogenicity rs11549709 GRCh38 Chromosome 1, 226961448: 226961448
31 COQ8A NM_020247.4(COQ8A): c.255T> G (p.His85Gln) single nucleotide variant Benign/Likely benign rs2297411 GRCh37 Chromosome 1, 227152778: 227152778
32 COQ8A NM_020247.4(COQ8A): c.255T> G (p.His85Gln) single nucleotide variant Benign/Likely benign rs2297411 GRCh38 Chromosome 1, 226965077: 226965077
33 COQ8A NM_020247.4(COQ8A): c.258A> C (p.Ala86=) single nucleotide variant Conflicting interpretations of pathogenicity rs137872711 GRCh37 Chromosome 1, 227152781: 227152781
34 COQ8A NM_020247.4(COQ8A): c.258A> C (p.Ala86=) single nucleotide variant Conflicting interpretations of pathogenicity rs137872711 GRCh38 Chromosome 1, 226965080: 226965080
35 COQ8A NM_020247.4(COQ8A): c.291C> T (p.Ser97=) single nucleotide variant Conflicting interpretations of pathogenicity rs111529228 GRCh37 Chromosome 1, 227152814: 227152814
36 COQ8A NM_020247.4(COQ8A): c.291C> T (p.Ser97=) single nucleotide variant Conflicting interpretations of pathogenicity rs111529228 GRCh38 Chromosome 1, 226965113: 226965113
37 COQ8A NM_020247.4(COQ8A): c.1053C> T (p.Gly351=) single nucleotide variant Benign/Likely benign rs55958233 GRCh37 Chromosome 1, 227170708: 227170708
38 COQ8A NM_020247.4(COQ8A): c.1053C> T (p.Gly351=) single nucleotide variant Benign/Likely benign rs55958233 GRCh38 Chromosome 1, 226983007: 226983007
39 COQ8A NM_020247.4(COQ8A): c.-10+8T> C single nucleotide variant Benign/Likely benign rs145688619 GRCh37 Chromosome 1, 227128108: 227128108
40 COQ8A NM_020247.4(COQ8A): c.-10+8T> C single nucleotide variant Benign/Likely benign rs145688619 GRCh38 Chromosome 1, 226940407: 226940407
41 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh37 Chromosome 10, 102748606: 102748606
42 TWNK NM_021830.4(TWNK): c.639C> T (p.Gly213=) single nucleotide variant Benign/Likely benign rs11542130 GRCh38 Chromosome 10, 100988849: 100988849
43 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh37 Chromosome 10, 102750621: 102750621
44 TWNK NM_021830.4(TWNK): c.1593-5C> T single nucleotide variant Benign rs3740485 GRCh38 Chromosome 10, 100990864: 100990864
45 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh37 Chromosome 10, 102750623: 102750623
46 TWNK NM_021830.4(TWNK): c.1593-3T> C single nucleotide variant Benign rs3740486 GRCh38 Chromosome 10, 100990866: 100990866
47 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh37 Chromosome 10, 102747363: 102747363
48 TWNK NM_021830.4(TWNK): c.-605G> T single nucleotide variant Benign rs3740484 GRCh38 Chromosome 10, 100987606: 100987606
49 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh37 Chromosome 10, 102752933: 102752933
50 TWNK NM_021830.4(TWNK): c.1735-14C> A single nucleotide variant Benign/Likely benign rs201795189 GRCh38 Chromosome 10, 100993176: 100993176

Expression for Autosomal Recessive Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Cerebellar Ataxia.

Pathways for Autosomal Recessive Cerebellar Ataxia

GO Terms for Autosomal Recessive Cerebellar Ataxia

Biological processes related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.67 ATM SETX STUB1 TDP1
2 mitochondrion organization GO:0007005 9.33 FXN SPG7 TWNK
3 mitochondrial calcium ion transmembrane transport GO:0006851 9.32 PMPCA SPG7
4 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.26 UBA5 UFM1
5 protein K69-linked ufmylation GO:1990592 8.96 UBA5 UFM1
6 protein ufmylation GO:0071569 8.62 UBA5 UFM1

Molecular functions related to Autosomal Recessive Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA helicase activity GO:0003678 8.62 SETX TWNK

Sources for Autosomal Recessive Cerebellar Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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