CMD1L
MCID: CRD090
MIFTS: 40

Cardiomyopathy, Dilated, 1l (CMD1L)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1l

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1l:

Name: Cardiomyopathy, Dilated, 1l 57 13 70
Dilated Cardiomyopathy 1l 12 29 6 15
Cmd1l 57 12 72
Cardiomyopathy, Dilated, Type 1l 39
Cardiomyopathy, Dilated 1l 72

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1l:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110436
OMIM® 57 606685
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C1847667
UMLS 70 C1847667

Summaries for Cardiomyopathy, Dilated, 1l

OMIM® : 57 Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200). (606685) (Updated 05-Apr-2021)

MalaCards based summary : Cardiomyopathy, Dilated, 1l, also known as dilated cardiomyopathy 1l, is related to autosomal recessive limb-girdle muscular dystrophy type 2j and autosomal recessive limb-girdle muscular dystrophy type 2l. An important gene associated with Cardiomyopathy, Dilated, 1l is SGCD (Sarcoglycan Delta), and among its related pathways/superpathways are Allograft rejection and Immune response Lectin induced complement pathway. Affiliated tissues include heart, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutations in the SGCD gene on chromosome 5q33.2-q33.3.

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1L: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Related Diseases for Cardiomyopathy, Dilated, 1l

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1l via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 SGCD SGCB
2 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 SGCD SGCB
3 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 SGCD SGCB
4 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 SGCD SGCB
5 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 SGCD SGCB
6 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 SGCD SGCB
7 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 SGCD SGCB
8 muscular dystrophy, limb-girdle, autosomal dominant 2 10.2 SGCD SGCB
9 bladder diverticulum 10.2 FBLN5 EFEMP1
10 autosomal recessive limb-girdle muscular dystrophy type 2a 10.2 SGCD SGCB
11 muscle tissue disease 10.2 SGCD SGCB ERCC6
12 cardiomyopathy, dilated, 3b 10.2 SGCD SGCB
13 muscular disease 10.1 SGCD SGCB ERCC6
14 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 SGCD SGCB
15 multifocal choroiditis 10.0 HTRA1 CFH
16 choroiditis 10.0 HTRA1 CFH
17 familial drusen 9.9 EFEMP1 CFH
18 3mc syndrome 9.9 MASP2 MASP1 KIR3DL1
19 complement component 3 deficiency 9.8 MASP1 CFH
20 yemenite deaf-blind hypopigmentation syndrome 9.7 EFEMP1 CFH
21 kuhnt-junius degeneration 9.7 HTRA1 CFH
22 basal laminar drusen 9.7 HMCN1 FBLN5 EFEMP1 CFH
23 hemolytic uremic syndrome, atypical 1 9.7 MASP2 MASP1 CFH
24 iga glomerulonephritis 9.6 MASP1 CFH AGTR1
25 eye disease 9.6 HTRA1 HMCN1 FBLN5 ERCC6 CFH
26 degeneration of macula and posterior pole 9.6 HTRA1 HMCN1 ERCC6 EFEMP1 CFH
27 retinal drusen 9.4 HMCN1 FBLN5 FBLN1 ERCC6 EFEMP1 CFH
28 doyne honeycomb retinal dystrophy 9.4 HMCN1 FBLN5 FBLN1 ERCC6 EFEMP1 CFH
29 macular degeneration, age-related, 1 9.4 HTRA1 HMCN1 FBLN5 ERCC6 EFEMP1 CFH

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1l:



Diseases related to Cardiomyopathy, Dilated, 1l

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1l

Human phenotypes related to Cardiomyopathy, Dilated, 1l:

31
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 dilated cardiomyopathy 31 HP:0001644
3 reduced systolic function 31 HP:0006673

Clinical features from OMIM®:

606685 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1l according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.44 UCP2
2 Decreased viability GR00249-S 9.44 ADAMTS5 FBLN1 HLA-B UCP2
3 Decreased viability GR00381-A-1 9.44 ADAMTS1
4 Decreased viability GR00386-A-1 9.44 ADAMTS1 ERCC6
5 Decreased viability GR00402-S-2 9.44 FBLN1 FBLN5 HTRA1 SCAPER SGCB

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1l:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ADAMTS1 AGTR1 CFH EFEMP1 FBLN1 FBLN5
2 immune system MP:0005387 9.7 ADAMTS1 ADAMTS5 AGTR1 CFH EFEMP1 ERCC6
3 muscle MP:0005369 9.17 CFH EFEMP1 ERCC6 FBLN1 FBLN5 SGCB

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1l

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1l

Genetic Tests for Cardiomyopathy, Dilated, 1l

Genetic tests related to Cardiomyopathy, Dilated, 1l:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1l 29 SGCD

Anatomical Context for Cardiomyopathy, Dilated, 1l

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1l:

40
Heart

Publications for Cardiomyopathy, Dilated, 1l

Articles related to Cardiomyopathy, Dilated, 1l:

# Title Authors PMID Year
1
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. 57 6
23695275 2014
2
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? 57 6
19259135 2009
3
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. 6 57
10974018 2000
4
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 6
19770540 2009
5
Revised spectrum of mutations in sarcoglycanopathies. 6
18285821 2008
6
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. 6
17164264 2007
7
Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting. 6
16524571 2006
8
Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. 57
9391120 1997
9
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). 6
10735275 1997
10
Identification of the Syrian hamster cardiomyopathy gene. 57
9097966 1997

Variations for Cardiomyopathy, Dilated, 1l

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1l:

6 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SGCD SGCD, 3-BP DEL, 710AGA/711GAA Deletion Pathogenic 8175 GRCh37:
GRCh38:
2 SGCD NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) SNV Pathogenic 8172 rs121909295 GRCh37: 5:156022052-156022052
GRCh38: 5:156595042-156595042
3 SGCD NM_000337.5(SGCD):c.699+1G>T SNV Likely pathogenic 558197 rs1554137130 GRCh37: 5:156184716-156184716
GRCh38: 5:156757705-156757705
4 SGCD NM_000337.5(SGCD):c.663C>A (p.Cys221Ter) SNV Likely pathogenic 557026 rs1175344271 GRCh37: 5:156184679-156184679
GRCh38: 5:156757668-156757668
5 SGCD NM_000337.5(SGCD):c.618del (p.Gly207fs) Deletion Likely pathogenic 557061 rs1554137109 GRCh37: 5:156184631-156184631
GRCh38: 5:156757620-156757620
6 SGCD NM_000337.5(SGCD):c.294+1G>A SNV Likely pathogenic 165232 rs727503422 GRCh37: 5:155935713-155935713
GRCh38: 5:156508703-156508703
7 SGCD NM_000337.5(SGCD):c.192+1G>A SNV Likely pathogenic 551052 rs1267810339 GRCh37: 5:155771688-155771688
GRCh38: 5:156344678-156344678
8 SGCD NM_000337.5(SGCD):c.69C>A (p.Tyr23Ter) SNV Likely pathogenic 553642 rs397517923 GRCh37: 5:155771564-155771564
GRCh38: 5:156344554-156344554
9 SGCD NM_000337.5(SGCD):c.-59G>A SNV Uncertain significance 177991 rs375477247 GRCh37: 5:155754227-155754227
GRCh38: 5:156327217-156327217
10 SGCD NM_000337.5(SGCD):c.559C>T (p.Pro187Ser) SNV Uncertain significance 411708 rs769250018 GRCh37: 5:156074530-156074530
GRCh38: 5:156647520-156647520
11 SGCD NM_000337.5(SGCD):c.-44+2T>A SNV Uncertain significance 554848 rs1300537737 GRCh37: 5:155754244-155754244
GRCh38: 5:156327234-156327234
12 SGCD NM_000337.5(SGCD):c.-44+1_-44+2dup Duplication Uncertain significance 555052 rs1554093294 GRCh37: 5:155754242-155754243
GRCh38: 5:156327232-156327233
13 SGCD NM_000337.5(SGCD):c.-43-1G>A SNV Uncertain significance 191774 rs767016855 GRCh37: 5:155756543-155756543
GRCh38: 5:156329533-156329533
14 SGCD NM_000337.5(SGCD):c.-44+1G>A SNV Uncertain significance 552679 rs959438136 GRCh37: 5:155754243-155754243
GRCh38: 5:156327233-156327233
15 SGCD NM_000337.5(SGCD):c.4-12C>T SNV Uncertain significance 178975 rs727504580 GRCh37: 5:155771487-155771487
GRCh38: 5:156344477-156344477
16 SGCD NM_000337.5(SGCD):c.3+2T>A SNV Uncertain significance 556722 rs753979573 GRCh37: 5:155756591-155756591
GRCh38: 5:156329581-156329581
17 SGCD NM_000337.5(SGCD):c.-44+2T>G SNV Uncertain significance 556922 rs1300537737 GRCh37: 5:155754244-155754244
GRCh38: 5:156327234-156327234
18 SGCD NM_000337.5(SGCD):c.-378G>T SNV Uncertain significance 178658 rs531296131 GRCh37: 5:155753908-155753908
GRCh38: 5:156326898-156326898
19 SGCD NM_000337.5(SGCD):c.-44G>T SNV Uncertain significance 165225 rs727503420 GRCh37: 5:155754242-155754242
GRCh38: 5:156327232-156327232
20 SGCD NM_000337.5(SGCD):c.1A>G (p.Met1Val) SNV Uncertain significance 549998 rs756367674 GRCh37: 5:155756587-155756587
GRCh38: 5:156329577-156329577
21 SGCD NM_000337.5(SGCD):c.383-33CTCTCTAT[4] Microsatellite Uncertain significance 287453 rs727504998 GRCh37: 5:156021908-156021909
GRCh38: 5:156594898-156594899
22 SGCD NM_000337.5(SGCD):c.-44+1G>C SNV Uncertain significance 557336 rs959438136 GRCh37: 5:155754243-155754243
GRCh38: 5:156327233-156327233
23 SGCD NM_000337.5(SGCD):c.3+1G>A SNV Uncertain significance 557704 rs777787493 GRCh37: 5:155756590-155756590
GRCh38: 5:156329580-156329580
24 SGCD NM_000337.5(SGCD):c.775_777del (p.Lys259del) Deletion Uncertain significance 557718 rs1207864818 GRCh37: 5:156186301-156186303
GRCh38: 5:156759290-156759292
25 SGCD NM_000337.5(SGCD):c.383-33_383-13del Deletion Uncertain significance 557858 rs1554119747 GRCh37: 5:156021903-156021923
GRCh38: 5:156594893-156594913
26 SGCD NM_000337.5(SGCD):c.-139dup Duplication Uncertain significance 558030 rs1554093270 GRCh37: 5:155754146-155754147
GRCh38: 5:156327136-156327137
27 SGCD NM_000337.5(SGCD):c.772C>T (p.Gln258Ter) SNV Uncertain significance 558382 rs1224803345 GRCh37: 5:156186300-156186300
GRCh38: 5:156759289-156759289
28 SGCD NM_000337.5(SGCD):c.4-1G>A SNV Uncertain significance 532691 rs1554094927 GRCh37: 5:155771498-155771498
GRCh38: 5:156344488-156344488
29 SGCD NM_172244.3(SGCD):c.771A>C (p.Ter257Cys) SNV Uncertain significance 165235 rs376317697 GRCh37: 5:156184787-156184787
GRCh38: 5:156757776-156757776
30 SGCD NM_000337.5(SGCD):c.383-33CTCTCTAT[2] Microsatellite Uncertain significance 179624 rs727504998 GRCh37: 5:156021909-156021916
GRCh38: 5:156594899-156594906
31 SGCD NM_000337.5(SGCD):c.-44+11G>A SNV Uncertain significance 179031 rs184722381 GRCh37: 5:155754253-155754253
GRCh38: 5:156327243-156327243
32 SGCD NM_000337.5(SGCD):c.32G>A (p.Arg11Gln) SNV Uncertain significance 196256 rs752548592 GRCh37: 5:155771527-155771527
GRCh38: 5:156344517-156344517
33 SGCD NM_000337.5(SGCD):c.193-12G>T SNV Uncertain significance 165231 rs727503421 GRCh37: 5:155935599-155935599
GRCh38: 5:156508589-156508589
34 SGCD NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) SNV Uncertain significance 8176 rs121909298 GRCh37: 5:156022010-156022010
GRCh38: 5:156595000-156595000
35 SGCD NM_000337.5(SGCD):c.268T>A (p.Tyr90Asn) SNV Uncertain significance 191775 rs786205286 GRCh37: 5:155935686-155935686
GRCh38: 5:156508676-156508676
36 SGCD NM_000337.5(SGCD):c.494G>A (p.Arg165Gln) SNV Uncertain significance 165234 rs727503423 GRCh37: 5:156022053-156022053
GRCh38: 5:156595043-156595043
37 SGCD NM_000337.5(SGCD):c.731C>T (p.Pro244Leu) SNV Uncertain significance 43356 rs375159661 GRCh37: 5:156186259-156186259
GRCh38: 5:156759248-156759248
38 SGCD NM_000337.5(SGCD):c.394G>A (p.Val132Ile) SNV Uncertain significance 177914 rs367819390 GRCh37: 5:156021953-156021953
GRCh38: 5:156594943-156594943
39 SGCD NM_000337.5(SGCD):c.697G>A (p.Glu233Lys) SNV Uncertain significance 229250 rs768979513 GRCh37: 5:156184713-156184713
GRCh38: 5:156757702-156757702
40 SGCD NM_000337.5(SGCD):c.393C>T (p.Ala131=) SNV Likely benign 48119 rs397517922 GRCh37: 5:156021952-156021952
GRCh38: 5:156594942-156594942
41 SGCD NM_172244.3(SGCD):c.717C>G (p.Asp239Glu) SNV Likely benign 48123 rs180898690 GRCh37: 5:156184733-156184733
GRCh38: 5:156757722-156757722
42 SGCD NM_000337.5(SGCD):c.69C>T (p.Tyr23=) SNV Likely benign 48121 rs397517923 GRCh37: 5:155771564-155771564
GRCh38: 5:156344554-156344554
43 SGCD NM_000337.5(SGCD):c.177C>T (p.Val59=) SNV Likely benign 179987 rs727505265 GRCh37: 5:155771672-155771672
GRCh38: 5:156344662-156344662
44 SGCD NM_000337.5(SGCD):c.383-35_383-34insA Insertion Likely benign 550146 rs1554119750 GRCh37: 5:156021907-156021908
GRCh38: 5:156594897-156594898
45 SGCD NM_000337.5(SGCD):c.383-47CTCTCTC[4] Microsatellite Likely benign 552660 rs780744816 GRCh37: 5:156021894-156021895
GRCh38: 5:156594884-156594885
46 SGCD NM_000337.5(SGCD):c.-626_-616del Deletion Benign 556599 rs149976574 GRCh37: 5:155753656-155753667
GRCh38: 5:156326647-156326657

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1l:

72
# Symbol AA change Variation ID SNP ID
1 SGCD p.Ser150Ala VAR_013181 rs121909298

Expression for Cardiomyopathy, Dilated, 1l

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1l.

Pathways for Cardiomyopathy, Dilated, 1l

Pathways related to Cardiomyopathy, Dilated, 1l according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 SGCD SGCB KIR3DL1 HLA-B AGTR1
2
Show member pathways
11.78 MASP2 MASP1 CFH
3
Show member pathways
11.75 HTRA1 FBLN5 FBLN1 EFEMP1 ADAMTS5 ADAMTS1
4
Show member pathways
11.71 MASP2 MASP1 CFH
5 11.66 MASP2 MASP1 CFH
6 11.42 MASP2 MASP1 CFH
7
Show member pathways
11 FBLN5 FBLN1 EFEMP1

GO Terms for Cardiomyopathy, Dilated, 1l

Cellular components related to Cardiomyopathy, Dilated, 1l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.06 MASP2 HTRA1 HMCN1 HLA-B FBLN5 FBLN1
2 extracellular space GO:0005615 9.97 MASP2 MASP1 HTRA1 FBLN5 FBLN1 EFEMP1
3 extracellular region GO:0005576 9.85 MASP2 MASP1 HTRA1 HMCN1 FBLN5 FBLN1
4 basement membrane GO:0005604 9.58 HMCN1 FBLN1 ADAMTS1
5 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCD SGCB
6 extracellular matrix GO:0031012 9.35 FBLN5 FBLN1 EFEMP1 ADAMTS5 ADAMTS1
7 sarcoglycan complex GO:0016012 9.32 SGCD SGCB
8 elastic fiber GO:0071953 9.26 FBLN5 FBLN1
9 collagen-containing extracellular matrix GO:0062023 9.17 HTRA1 HMCN1 FBLN5 FBLN1 EFEMP1 ADAMTS5

Biological processes related to Cardiomyopathy, Dilated, 1l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.72 MASP2 MASP1 HTRA1 ADAMTS5 ADAMTS1
2 extracellular matrix organization GO:0030198 9.46 FBLN5 FBLN1 ADAMTS5 ADAMTS1
3 complement activation GO:0006956 9.43 MASP2 MASP1 CFH
4 complement activation, lectin pathway GO:0001867 8.96 MASP2 MASP1
5 response to superoxide GO:0000303 8.62 UCP2 ERCC6

Molecular functions related to Cardiomyopathy, Dilated, 1l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 UCP2 SGCB SCAPER RAD9B MASP2 MASP1
2 serine-type peptidase activity GO:0008236 9.54 MASP2 MASP1 HTRA1
3 integrin binding GO:0005178 9.5 FBLN5 FBLN1 ADAMTS5
4 extracellular matrix structural constituent GO:0005201 9.43 HMCN1 FBLN1 EFEMP1
5 peptidase activity GO:0008233 9.35 MASP2 MASP1 HTRA1 ADAMTS5 ADAMTS1
6 calcium ion binding GO:0005509 9.1 MASP2 MASP1 HMCN1 FBLN5 FBLN1 EFEMP1

Sources for Cardiomyopathy, Dilated, 1l

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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