CMD1DD
MCID: CRD091
MIFTS: 40

Cardiomyopathy, Dilated, 1dd (CMD1DD)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1dd

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1dd:

Name: Cardiomyopathy, Dilated, 1dd 57 13 71
Dilated Cardiomyopathy 1dd 12 29 6 15
Cmd1dd 57 12 73
Cardiomyopathy, Dilated, Type 1dd 39
Cardiomyopathy, Dilated 1dd 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110447
OMIM® 57 613172
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C2750995
UMLS 71 C2750995

Summaries for Cardiomyopathy, Dilated, 1dd

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated 1DD: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1dd, also known as dilated cardiomyopathy 1dd, is related to mitochondrial dna depletion syndrome 12b and lmna-related dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1dd is RBM20 (RNA Binding Motif Protein 20), and among its related pathways/superpathways are cGMP-PKG signaling pathway and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and congestive heart failure

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the RBM20 gene on chromosome 10q25.

More information from OMIM: 613172 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1dd

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, 1dd via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 12b 10.2 TTN RBM20
2 lmna-related dilated cardiomyopathy 10.1 TTN RBM20
3 cardiomyopathy, familial hypertrophic, 4 10.1 TTN TNNT2
4 mobitz type ii atrioventricular block 10.1 TNNT2 LDB3
5 mitral valve insufficiency 10.1 TTN TNNT2
6 left bundle branch hemiblock 10.1 TNNT2 RYR2
7 ventricular fibrillation, paroxysmal familial, 1 10.1 TNNT2 RYR2
8 ebstein anomaly 10.1 TNNT2 LDB3
9 myotonic disease 10.1 TNNT2 LDB3
10 cardiomyopathy, dilated, 1h 10.0 TTN RBM20
11 atrioventricular block 10.0 TTN RYR2
12 cardiomyopathy, dilated, 1a 10.0 TTN RBM20
13 myopathy, myofibrillar, 3 10.0 TTN LDB3
14 arrhythmogenic right ventricular dysplasia, familial, 1 10.0 TTN RYR2
15 congenital structural myopathy 10.0 TTN RYR2
16 cardiomyopathy, dilated, 1b 10.0 TTN TNNT2 RBM20
17 primary cutaneous amyloidosis 10.0 TTN TNNT2
18 myopathy, myofibrillar, 9, with early respiratory failure 10.0 TTN LDB3
19 restrictive cardiomyopathy 10.0 TTN TNNT2 PDLIM3
20 tibial muscular dystrophy 10.0 TTN LDB3
21 myopathy, myofibrillar, 1 10.0 TTN LDB3
22 brugada syndrome 1 10.0 RYR2 LDB3
23 nonaka myopathy 9.9 TTN LDB3
24 syncope 9.9 TTN TNNT2 RYR2
25 extrinsic cardiomyopathy 9.9 TTN TNNT2
26 barth syndrome 9.9 TTN TNNT2 LDB3
27 cardiac arrest 9.9 TTN TNNT2 RYR2
28 congestive heart failure 9.9 TTN TNNT2 RYR2
29 isolated elevated serum creatine phosphokinase levels 9.9 TTN RYR2
30 heart conduction disease 9.9 TTN TNNT2 RYR2
31 emery-dreifuss muscular dystrophy 9.8 TTN LMO7 LDB3
32 rasopathy 9.8 TTN TNNT2 RYR2
33 cardiomyopathy, familial hypertrophic, 1 9.8 TTN TNNT2 RYR2
34 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.8 TTN RYR2 LDB3
35 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.8 TTN RYR2 LDB3
36 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.8 TTN RYR2 LDB3
37 atrial standstill 1 9.7 TTN TNNT2 RYR2 RBM20
38 myopathy, myofibrillar, 5 9.7 TTN LDB3
39 neuromuscular disease 9.7 TTN RYR2 LDB3
40 congenital myasthenic syndrome 9.7 TTN TNNT2 RYR2
41 arrhythmogenic right ventricular cardiomyopathy 9.6 TTN RYR2 RBM20 LDB3
42 long qt syndrome 9.6 TTN RYR2 RBM20 LDB3
43 intrinsic cardiomyopathy 9.4 TTN TNNT2 RYR2 RBM20 LDB3
44 brugada syndrome 9.4 TTN TNNT2 RYR2 RBM20 LDB3
45 myopathy 9.4 TTN TNNT2 RYR2 PDLIM3 LDB3
46 muscular dystrophy 9.4 TTN TNNT2 RYR2 PDLIM3 LDB3
47 left ventricular noncompaction 9.3 TTN TNNT2 RYR2 RBM20 PDLIM3 LDB3
48 hypertrophic cardiomyopathy 9.3 TTN TNNT2 RYR2 RBM20 PDLIM3 LDB3
49 dilated cardiomyopathy 8.4 TTN TNNT2 RYR2 RTN4 RBM20 PDLIM3

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



Diseases related to Cardiomyopathy, Dilated, 1dd

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1dd

Human phenotypes related to Cardiomyopathy, Dilated, 1dd:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 congestive heart failure 31 HP:0001635
3 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
sudden cardiac death
dilated cardiomyopathy
heart failure
markedly reduced left ventricular ejection fraction
supraventricular and/or ventricular arrhythmias (in some patients)

Clinical features from OMIM®:

613172 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CAMK2D LDB3 RBM20 RTN4 RYR2 TNNT2
2 mortality/aging MP:0010768 9.56 CAMK2D LDB3 LMO7 RBM20 RTN4 RYR2
3 muscle MP:0005369 9.17 CAMK2D LDB3 LMO7 RBM20 RYR2 TNNT2

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1dd

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

Genetic Tests for Cardiomyopathy, Dilated, 1dd

Genetic tests related to Cardiomyopathy, Dilated, 1dd:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1dd 29 RBM20

Anatomical Context for Cardiomyopathy, Dilated, 1dd

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1dd

Articles related to Cardiomyopathy, Dilated, 1dd:

# Title Authors PMID Year
1
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 6 57
20590677 2010
2
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 57 6
19712804 2009

Variations for Cardiomyopathy, Dilated, 1dd

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

6 (show top 50) (show all 533)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBM20 NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) SNV Pathogenic 268 rs267607003 10:112572068-112572068 10:110812310-110812310
2 RBM20 NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) SNV Pathogenic 269 rs267607001 10:112572056-112572056 10:110812298-110812298
3 RBM20 NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) SNV Pathogenic 270 rs267607002 10:112572061-112572061 10:110812303-110812303
4 RBM20 NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) SNV Pathogenic 272 rs267607005 10:112572064-112572064 10:110812306-110812306
5 TNNT2 NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) SNV Pathogenic 132943 rs483352832 1:201333455-201333455 1:201364327-201364327
6 RBM20 NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) SNV Pathogenic 43980 rs267607002 10:112572061-112572061 10:110812303-110812303
7 RBM20 NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) SNV Pathogenic 411653 rs796734066 10:112572055-112572055 10:110812297-110812297
8 RBM20 NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) SNV Pathogenic 43998 rs397516607 10:112581114-112581114 10:110821356-110821356
9 RBM20 NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) SNV Pathogenic 560165 rs1564664312 10:112581091-112581091 10:110821333-110821333
10 RBM20 NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) SNV Pathogenic/Likely pathogenic 271 rs267607004 10:112572062-112572062 10:110812304-110812304
11 RBM20 NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter) SNV Likely pathogenic 520425 rs1554898987 10:112541383-112541383 10:110781625-110781625
12 RBM20 NM_001134363.3(RBM20):c.3147del (p.Lys1050fs) Deletion Likely pathogenic 930180 10:112581524-112581524 10:110821766-110821766
13 RBM20 NM_001134363.3(RBM20):c.2991G>A (p.Val997=) SNV Conflicting interpretations of pathogenicity 700778 rs756276591 10:112581368-112581368 10:110821610-110821610
14 RBM20 NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) SNV Conflicting interpretations of pathogenicity 298792 rs199842148 10:112541502-112541502 10:110781744-110781744
15 RBM20 NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) SNV Conflicting interpretations of pathogenicity 229186 rs372567331 10:112557267-112557267 10:110797509-110797509
16 RBM20 NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) SNV Conflicting interpretations of pathogenicity 180484 rs563762318 10:112590912-112590912 10:110831154-110831154
17 RBM20 NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) SNV Conflicting interpretations of pathogenicity 202044 rs183007628 10:112557341-112557341 10:110797583-110797583
18 RBM20 NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) SNV Conflicting interpretations of pathogenicity 165040 rs727503388 10:112572399-112572399 10:110812641-110812641
19 RBM20 NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) SNV Conflicting interpretations of pathogenicity 43987 rs397516601 10:112572368-112572368 10:110812610-110812610
20 RBM20 NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg) SNV Conflicting interpretations of pathogenicity 298801 rs772708424 10:112581643-112581643 10:110821885-110821885
21 RBM20 NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) SNV Conflicting interpretations of pathogenicity 43990 rs200271618 10:112572607-112572607 10:110812849-110812849
22 RBM20 NM_001134363.3(RBM20):c.2655+15A>G SNV Conflicting interpretations of pathogenicity 43993 rs187915202 10:112579949-112579949 10:110820191-110820191
23 RBM20 NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) SNV Conflicting interpretations of pathogenicity 44006 rs147356378 10:112581642-112581642 10:110821884-110821884
24 RBM20 NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) SNV Conflicting interpretations of pathogenicity 43983 rs41292592 10:112572147-112572147 10:110812389-110812389
25 RBM20 NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) SNV Conflicting interpretations of pathogenicity 179028 rs187423999 10:112541216-112541216 10:110781458-110781458
26 RBM20 NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=) SNV Conflicting interpretations of pathogenicity 538038 rs892459274 10:112595661-112595661 10:110835903-110835903
27 RBM20 NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) SNV Conflicting interpretations of pathogenicity 264328 rs554167951 10:112595700-112595700 10:110835942-110835942
28 RBM20 NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) SNV Conflicting interpretations of pathogenicity 298791 rs192232825 10:112541420-112541420 10:110781662-110781662
29 RBM20 NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) SNV Conflicting interpretations of pathogenicity 382322 rs758718732 10:112541152-112541152 10:110781394-110781394
30 RBM20 NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) SNV Conflicting interpretations of pathogenicity 416824 rs374299043 10:112541528-112541528 10:110781770-110781770
31 RBM20 NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) SNV Conflicting interpretations of pathogenicity 378472 rs374014662 10:112544139-112544139 10:110784381-110784381
32 RBM20 NM_001134363.3(RBM20):c.1429+10G>T SNV Conflicting interpretations of pathogenicity 298796 rs778742738 10:112544200-112544200 10:110784442-110784442
33 RBM20 NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) SNV Conflicting interpretations of pathogenicity 43966 rs200588338 10:112541546-112541546 10:110781788-110781788
34 RBM20 NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) SNV Conflicting interpretations of pathogenicity 43995 rs201370621 10:112581039-112581039 10:110821281-110821281
35 RBM20 NM_001134363.3(RBM20):c.3452-10C>T SNV Conflicting interpretations of pathogenicity 44011 rs60618533 10:112590809-112590809 10:110831051-110831051
36 RBM20 NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) SNV Conflicting interpretations of pathogenicity 138900 rs537723089 10:112572141-112572141 10:110812383-110812383
37 RBM20 NM_001134363.3(RBM20):c.280C>T (p.Leu94=) SNV Conflicting interpretations of pathogenicity 165022 rs182768779 10:112540647-112540647 10:110780889-110780889
38 RBM20 NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) SNV Conflicting interpretations of pathogenicity 238546 rs138926584 10:112572173-112572173 10:110812415-110812415
39 RBM20 NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) SNV Conflicting interpretations of pathogenicity 43969 rs61735272 10:112543134-112543134 10:110783376-110783376
40 RBM20 NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) SNV Conflicting interpretations of pathogenicity 44018 rs199868951 10:112540815-112540815 10:110781057-110781057
41 RBM20 NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) SNV Conflicting interpretations of pathogenicity 202064 rs143785916 10:112572077-112572077 10:110812319-110812319
42 RBM20 NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) SNV Conflicting interpretations of pathogenicity 298797 rs764304126 10:112572300-112572300 10:110812542-110812542
43 RBM20 NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) SNV Conflicting interpretations of pathogenicity 178111 rs202238753 10:112541047-112541047 10:110781289-110781289
44 RBM20 NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) SNV Conflicting interpretations of pathogenicity 199060 rs181769913 10:112572473-112572473 10:110812715-110812715
45 RBM20 NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) SNV Conflicting interpretations of pathogenicity 194356 rs753102653 10:112595636-112595636 10:110835878-110835878
46 RBM20 NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) SNV Conflicting interpretations of pathogenicity 44028 rs201148126 10:112541217-112541217 10:110781459-110781459
47 RBM20 NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) SNV Conflicting interpretations of pathogenicity 378473 rs375626512 10:112557397-112557397 10:110797639-110797639
48 RBM20 NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) SNV Uncertain significance 178978 rs727504583 10:112540731-112540731 10:110780973-110780973
49 RBM20 NM_001134363.3(RBM20):c.954A>G (p.Gln318=) SNV Uncertain significance 227897 rs766779254 10:112541321-112541321 10:110781563-110781563
50 RBM20 NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) SNV Uncertain significance 264207 rs777768807 10:112595647-112595647 10:110835889-110835889

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

73
# Symbol AA change Variation ID SNP ID
1 RBM20 p.Arg634Gln VAR_063092 rs267607001
2 RBM20 p.Arg636His VAR_063093 rs267607004
3 RBM20 p.Arg636Ser VAR_063094 rs267607002
4 RBM20 p.Ser637Gly VAR_063095 rs267607005
5 RBM20 p.Pro638Leu VAR_063096 rs267607003
6 RBM20 p.Val535Ile VAR_068802 rs183007628
7 RBM20 p.Arg634Trp VAR_068803 rs796734066
8 RBM20 p.Ser635Ala VAR_068804
9 RBM20 p.Arg636Cys VAR_068805 rs267607002
10 RBM20 p.Arg716Gln VAR_068806 rs375798246

Expression for Cardiomyopathy, Dilated, 1dd

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

Pathways for Cardiomyopathy, Dilated, 1dd

GO Terms for Cardiomyopathy, Dilated, 1dd

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

# Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum GO:0016529 9.4 RYR2 CAMK2D
2 sarcomere GO:0030017 9.37 TNNT2 RYR2
3 adherens junction GO:0005912 9.33 PDLIM3 LMO7 LDB3
4 sarcoplasmic reticulum membrane GO:0033017 9.32 RYR2 CAMK2D
5 filamentous actin GO:0031941 9.26 PDLIM3 LDB3
6 striated muscle thin filament GO:0005865 8.96 TTN TNNT2
7 Z disc GO:0030018 8.92 TTN RYR2 PDLIM3 LDB3

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.58 RBM20 PDLIM3 LDB3
2 response to calcium ion GO:0051592 9.46 TTN TNNT2
3 muscle filament sliding GO:0030049 9.43 TTN TNNT2
4 regulation of heart contraction GO:0008016 9.37 TNNT2 CAMK2D
5 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.32 RYR2 CAMK2D
6 cardiac muscle hypertrophy GO:0003300 9.26 TTN RYR2
7 muscle structure development GO:0061061 9.16 PDLIM3 LDB3
8 cardiac muscle contraction GO:0060048 9.13 TTN TNNT2 RYR2
9 sarcomere organization GO:0045214 8.8 TTN TNNT2 LDB3

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.33 TTN RYR2 CAMK2D
2 protein self-association GO:0043621 9.26 TTN RYR2
3 actinin binding GO:0042805 8.96 TTN LMO7
4 muscle alpha-actinin binding GO:0051371 8.8 TTN PDLIM3 LDB3

Sources for Cardiomyopathy, Dilated, 1dd

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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