SCAR17
MCID: SPN298
MIFTS: 43

Spinocerebellar Ataxia, Autosomal Recessive 17 (SCAR17)

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Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 17

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 17:

Name: Spinocerebellar Ataxia, Autosomal Recessive 17 57 71
Autosomal Recessive Spinocerebellar Ataxia 17 11 28 5 14
Scar17 57 58 73
Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 17 38
Spinocerebellar Ataxia Autosomal Recessive Type 17 58
Spinocerebellar Ataxia, Autosomal Recessive, 17 73

Characteristics:


Inheritance:

Spinocerebellar Ataxia, Autosomal Recessive 17: Autosomal recessive 57
Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency: Autosomal recessive 58

Prevelance:

Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy
slowly progressive disorder


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 17

UniProtKB/Swiss-Prot: 73 A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability.

MalaCards based summary: Spinocerebellar Ataxia, Autosomal Recessive 17, also known as autosomal recessive spinocerebellar ataxia 17, is related to cerebellar ataxia type 47 and cerebral palsy, ataxic, autosomal recessive, and has symptoms including tremor and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 17 is CWF19L1 (CWF19 Like Cell Cycle Control Factor 1), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and CCR5 Pathway in Macrophages. Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are dysarthria and global developmental delay

Orphanet: 58 A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.

OMIM®: 57 Autosomal recessive spinocerebellar ataxia-17 (SCAR17) is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variably impaired intellectual development (summary by Evers et al., 2016). (616127) (Updated 24-Oct-2022)

Disease Ontology: 11 An autosomal recessive cerebellar ataxia that has material basis in homozygous mutation in the CWF19L1 gene on chromosome 10q24.

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 17

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia 5 Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 11
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia, Autosomal Recessive 29
Spinocerebellar Ataxia, Autosomal Recessive 30 Spinocerebellar Ataxia, Autosomal Recessive 31
Spinocerebellar Ataxia 49 Spinocerebellar Ataxia, Autosomal Recessive 32
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia type 47 10.2 SPTBN2 KCNC3
2 cerebral palsy, ataxic, autosomal recessive 10.2 SPTBN2 KCNC3
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.2 TGM6 SPTBN2
4 optic atrophy 9 10.2 SPTBN2 AFG3L2
5 spinocerebellar ataxia type 19/22 10.1 KCND3 KCNC3
6 spastic paraplegia 8, autosomal dominant 10.1 SPTBN2 KCNC3
7 spastic paraplegia 41, autosomal dominant 10.1 SPTBN2 KCND3
8 optic atrophy 10 with or without ataxia, mental retardation, and seizures 10.1 SPTBN2 AFG3L2
9 spinocerebellar ataxia 35 10.1 TGM6 TGM5 AFG3L2
10 marinesco-sjogren syndrome 10.0 SPTBN2 KCNC3
11 spinocerebellar ataxia, x-linked 1 9.9 TGM6 SPTBN2 KCNC3 AFG3L2
12 cerebellar ataxia type 42 9.9 PRKCG NOP56 CACNA1G
13 spinocerebellar ataxia 18 9.9 CACNA1A AFG3L2
14 torticollis 9.9 TGM6 CACNA1A
15 spinocerebellar ataxia 23 9.9 SPTBN2 PDYN KCNC3
16 spinocerebellar ataxia 40 9.9 KCNC3 CACNA1A
17 spinocerebellar ataxia 15 9.9 SPTBN2 PRKCG KCNC3 AFG3L2
18 spinocerebellar ataxia 31 9.9 NOP56 CACNA1A
19 spastic paraparesis 9.8 CACNA1A AFG3L2
20 spinocerebellar ataxia 13 9.8 SPTBN2 PRKCG KCND3 KCNC3
21 spinocerebellar ataxia 14 9.8 PRKCG CACNA1A
22 spinocerebellar ataxia, autosomal recessive 8 9.8 SPTBN2 CACNA1A
23 episodic ataxia, type 6 9.8 SPTBN2 KCNC3 CACNA1A
24 olivopontocerebellar atrophy 9.8 SPTBN2 CACNA1A
25 spinocerebellar ataxia, autosomal recessive 14 9.8 SPTBN2 CACNA1A AFG3L2
26 spinal and bulbar muscular atrophy, x-linked 1 9.8 NOP56 KCNC3 CACNA1A
27 progressive myoclonus epilepsy 9.8 KCNC3 CACNA1A AFG3L2
28 spinocerebellar ataxia, autosomal recessive 4 9.7 KCND3 KCNC3 CACNA1A
29 episodic ataxia, type 1 9.7 KCND3 KCNC3 CACNA1A
30 adolescence-adult electroclinical syndrome 9.7 CACNA1G CACNA1A
31 timothy syndrome 9.7 CACNA1G CACNA1A
32 spinocerebellar ataxia 1 9.6 SPTBN2 PRKCG KCNC3 CACNA1A
33 spinocerebellar ataxia 6 9.6 SPTBN2 PRKCG KCNC3 CACNA1A
34 friedreich ataxia 9.6 SPTBN2 PRKCG KCNC3 CACNA1A
35 aceruloplasminemia 9.6 SPTBN2 PRKCG CACNA1A AFG3L2
36 cerebellar ataxia type 43 9.5 TGM6 SPTBN2 PRKCG KCND3 KCNC3 AFG3L2
37 childhood electroclinical syndrome 9.5 CACNA1G CACNA1A
38 childhood absence epilepsy 9.5 PDYN CACNA1G CACNA1A
39 machado-joseph disease 9.4 SPTBN2 PRKCG NOP56 KCNC3 CACNA1A
40 cerebellar ataxia type 48 9.4 SPTBN2 PRKCG KCND3 CACNA1A AFG3L2
41 episodic ataxia, type 2 9.4 SPTBN2 PRKCG KCNC3 CACNA1G CACNA1A
42 dentatorubral-pallidoluysian atrophy 9.3 SPTBN2 PRKCG NOP56 KCNC3 CACNA1A AFG3L2
43 dystonia 9.2 PRKCG PDYN KCND3 CACNA1A AFG3L2
44 spastic ataxia 9.0 SPTBN2 PRKCG KCND3 KCNC3 CACNA1G CACNA1A
45 hereditary ataxia 8.9 TGM6 SPTBN2 PRKCG NOP56 KCND3 KCNC3
46 cerebellar disease 8.9 TGM6 SPTBN2 PRKCG NOP56 KCND3 KCNC3
47 episodic ataxia 8.9 TGM6 SPTBN2 PRKCG KCND3 KCNC3 CACNA1G
48 autosomal dominant cerebellar ataxia 8.3 TGM6 SPTBN2 PRKCG PDYN NOP56 KIF26B

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 17:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 17

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 17

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 17:

58 30 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001260
2 global developmental delay 58 30 Very rare (1%) Frequent (79-30%)
HP:0001263
3 delayed speech and language development 58 30 Very rare (1%) Frequent (79-30%)
HP:0000750
4 slurred speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0001350
5 intellectual disability, moderate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002342
6 dysmetria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001310
7 dystonia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001332
8 synophrys 58 30 Very rare (1%) Frequent (79-30%)
HP:0000664
9 gait ataxia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002066
10 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
11 cerebellar vermis hypoplasia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001320
12 oculomotor apraxia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000657
13 unsteady gait 58 30 Very rare (1%) Frequent (79-30%)
HP:0002317
14 clumsiness 58 30 Very rare (1%) Frequent (79-30%)
HP:0002312
15 frequent falls 58 30 Very rare (1%) Frequent (79-30%)
HP:0002359
16 intention tremor 58 30 Very rare (1%) Frequent (79-30%)
HP:0002080
17 horizontal nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000666
18 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
19 truncal ataxia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002078
20 mild microcephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0040196
21 nonprogressive cerebellar ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002470
22 monotonic speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0031435
23 abnormality of the distal phalanx of the thumb 58 30 Frequent (33%) Frequent (79-30%)
HP:0009617
24 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
25 hyperreflexia 30 Very rare (1%) HP:0001347
26 thick eyebrow 30 Very rare (1%) HP:0000574
27 intellectual disability, mild 30 Very rare (1%) HP:0001256
28 strabismus 30 Very rare (1%) HP:0000486
29 easy fatigability 30 Very rare (1%) HP:0003388
30 broad-based gait 30 Very rare (1%) HP:0002136
31 cerebellar atrophy 30 Very rare (1%) HP:0001272
32 limb ataxia 30 Very rare (1%) HP:0002070
33 appendicular hypotonia 30 Very rare (1%) HP:0012389

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
intellectual disability
dysarthria
tremor
dysmetria
unsteady gait
more
Neurologic Peripheral Nervous System:
hyperreflexia in the lower extremities

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

616127 (Updated 24-Oct-2022)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 17:


tremor; ataxia, truncal

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 17:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 AFG3L2 CACNA1A CACNA1G EP300 FAT1 KCNC3
2 behavior/neurological MP:0005386 9.32 AFG3L2 CACNA1A CACNA1G FAT1 KCNC3 KCND3

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 17

Search Clinical Trials, NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 17

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 17

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 17:

# Genetic test Affiliating Genes
1 Autosomal Recessive Spinocerebellar Ataxia 17 28 CWF19L1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 17

Organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 17:

MalaCards : Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 17

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 17:

# Title Authors PMID Year
1
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. 57 5
27016154 2016
2
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. 57 5
26197978 2016
3
Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. 57 5
25361784 2014
4
Non-progressive congenital ataxia with cerebellar hypoplasia in three families. 57 5
15981765 2005
5
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17. 62
33012273 2021

Variations for Spinocerebellar Ataxia, Autosomal Recessive 17

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 17:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CWF19L1 NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter) SNV Pathogenic
253210 rs879255653 GRCh37: 10:102005574-102005574
GRCh38: 10:100245817-100245817
2 CWF19L1 NM_018294.6(CWF19L1):c.708+294_1044+1540del DEL Pathogenic
996893 GRCh37: 10:102001915-102009711
GRCh38: 10:100242158-100249954
3 CWF19L1 NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter) SNV Pathogenic
1322180 GRCh37: 10:102013281-102013281
GRCh38: 10:100253524-100253524
4 CWF19L1 NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) SNV Pathogenic
976765 rs1846512047 GRCh37: 10:101997919-101997919
GRCh38: 10:100238162-100238162
5 CWF19L1 NM_018294.6(CWF19L1):c.964+1G>A SNV Pathogenic
128882 rs587780326 GRCh37: 10:102005555-102005555
GRCh38: 10:100245798-100245798
6 CWF19L1 NM_018294.6(CWF19L1):c.467del (p.Pro156fs) DEL Pathogenic
253212 rs879255654 GRCh37: 10:102016056-102016056
GRCh38: 10:100256299-100256299
7 CWF19L1 NM_018294.6(CWF19L1):c.942del (p.Pro315fs) DEL Likely Pathogenic
806557 rs749679347 GRCh37: 10:102005578-102005578
GRCh38: 10:100245821-100245821
8 CWF19L1 NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) SNV Likely Pathogenic
976766 rs772697259 GRCh37: 10:102010048-102010048
GRCh38: 10:100250291-100250291
9 CWF19L1 NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter) SNV Likely Pathogenic
984934 rs201230582 GRCh37: 10:102016174-102016174
GRCh38: 10:100256417-100256417
10 CWF19L1 NM_018294.6(CWF19L1):c.187+1G>T SNV Likely Pathogenic
1685293 GRCh37: 10:102020722-102020722
GRCh38: 10:100260965-100260965
11 CWF19L1 NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter) SNV Likely Pathogenic
488454 rs1554902760 GRCh37: 10:101997883-101997883
GRCh38: 10:100238126-100238126
12 CWF19L1 NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) DUP Likely Pathogenic
800879 rs1589625941 GRCh37: 10:102013195-102013196
GRCh38: 10:100253438-100253439
13 CWF19L1 NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) DUP Likely Pathogenic
813893 rs1589611043 GRCh37: 10:101997874-101997875
GRCh38: 10:100238117-100238118
14 CWF19L1 NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter) SNV Uncertain Significance
1678602 GRCh37: 10:101993078-101993078
GRCh38: 10:100233321-100233321
15 CWF19L1 NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu) SNV Uncertain Significance
1678624 GRCh37: 10:101997970-101997970
GRCh38: 10:100238213-100238213
16 CWF19L1 NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly) SNV Uncertain Significance
981166 rs1846515941 GRCh37: 10:101997988-101997988
GRCh38: 10:100238231-100238231
17 CWF19L1 NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del) MICROSAT Uncertain Significance
488455 rs746710766 GRCh37: 10:101993044-101993046
GRCh38: 10:100233287-100233289

Expression for Spinocerebellar Ataxia, Autosomal Recessive 17

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 17.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 17

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 PRKCG EP300 CACNA1G CACNA1A
2
Show member pathways
12.41 PRKCG EP300 CACNA1G CACNA1A
3
Show member pathways
12.29 PDYN EP300 CACNA1G CACNA1A
4
Show member pathways
12.04 PRKCG EP300 CACNA1G CACNA1A
5 11.61 PRKCG KCND3 KCNC3 CACNA1A
6
Show member pathways
11.35 PRKCG PDYN EP300 CACNA1G CACNA1A
7 10.58 PRKCG CACNA1A

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 17

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.56 PRKCG PDYN CACNA1G CACNA1A
2 regulation of ion transmembrane transport GO:0034765 9.23 KCND3 KCNC3 CACNA1G CACNA1A

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acyltransferase activity GO:0016746 9.56 TGM6 TGM5 EP300
2 protein-glutamine gamma-glutamyltransferase activity GO:0003810 9.46 TGM6 TGM5
3 ion channel activity GO:0005216 9.26 KCND3 KCNC3 CACNA1G CACNA1A
4 voltage-gated ion channel activity GO:0005244 8.92 KCND3 KCNC3 CACNA1G CACNA1A

Sources for Spinocerebellar Ataxia, Autosomal Recessive 17

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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