CMD1C
MCID: CRD234
MIFTS: 42

Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction (CMD1C)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

Name: Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 56
Left Ventricular Noncompaction 3 56 73 6 71
Dilated Cardiomyopathy 1c 12 29 6 15
Dilated Cardiomyopathy with Left Ventricular Noncompaction 29 6
Cardiomyopathy, Dilated, 1c, with or Without Lvnc 56 29
Cardiomyopathy, Hypertrophic, 24 56 29
Cmd1c 56 73
Cardiomyopathy, Dilated 1c, with or Without Left Ventricular Non-Compaction 73
Dilated Cardiomyopathy 1c with or Without Left Ventricular Noncompaction 12
Cardiomyopathy Dilated with Left Ventricular Noncompaction 73
Cardiomyopathy, Familial Hypertrophic 24 73
Familial Hypertrophic Cardiomyopathy 24 6
Left Ventricular Non-Compaction 3 73
Cardiomyopathy, Dilated, 1c 71
Cardiomyopathy, Dilated 1c 13
Cmdc1 12
Cmh24 73
Lvnc3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110423
OMIM 56 601493
OMIM Phenotypic Series 56 PS115200 PS192600 PS604169
ICD10 32 I42.0
UMLS 71 C1832244 C3152137

Summaries for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.
Cardiomyopathy, familial hypertrophic 24: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Left ventricular non-compaction 3: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition.

MalaCards based summary : Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction, also known as left ventricular noncompaction 3, is related to reticulohistiocytic granuloma and langerhans cell sarcoma. An important gene associated with Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction is LDB3 (LIM Domain Binding 3), and among its related pathways/superpathways are Innate Immune System and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Affiliated tissues include heart and testes, and related phenotypes are sudden cardiac death and left ventricular hypertrophy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.

More information from OMIM: 601493 PS115200 PS192600 PS604169

Related Diseases for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Diseases in the Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction family:

Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction

Diseases related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 reticulohistiocytic granuloma 10.3 CD1C CD163
2 langerhans cell sarcoma 10.3 CD1C CD163
3 balloon cell malignant melanoma 10.3 CD1C CD163
4 histiocytic and dendritic cell cancer 10.3 CD1C CD163
5 granulomatous dermatitis 10.2 CD1C CD163
6 central nervous system leukemia 10.2 CD33 CD19
7 non-langerhans-cell histiocytosis 10.2 CD1C CD163
8 autosomal dominant non-syndromic intellectual disability 32 10.1 POTEF ACTG1
9 silo filler's disease 10.1 POTEF ACTG1
10 psoriasis 15 10.0 CD83 CD1C
11 leukemia, acute monocytic 10.0 THBD MALAT1 CD33
12 adult xanthogranuloma 10.0 CD1C CD163
13 localized pulmonary fibrosis 10.0 PSMD5 PSMD4
14 ciliary dyskinesia, primary, 10 9.9 PSMD5 PSMD4
15 ophthalmia nodosa 9.9 PSMD5 PSMD4
16 hypotrichosis 1 9.8 PSMD5 PSMD4 CD19
17 congenital disorder of glycosylation, type il 9.8 PSMD5 PSMD4
18 granulomatosis with polyangiitis 9.7 IL7R FCGR3B CD19
19 myasthenic syndrome, congenital, 21, presynaptic 9.7 PSMD5 PSMD4
20 takayasu arteritis 9.7 THBD S100A12 FCGR3A
21 transient neonatal neutropenia 9.7 FCGR3B FCGR3A
22 chronic nk-cell lymphocytosis 9.7 FCGR3B FCGR3A
23 mosaic variegated aneuploidy syndrome 2 9.6 FCGR3B FCGR3A
24 selective igg deficiency disease 9.6 FCGR3B FCGR3A
25 oxirane allergy 9.6 FCGR3B FCGR3A
26 anauxetic dysplasia 1 9.5 FCGR3B FCGR3A CD19
27 retinitis pigmentosa 23 9.5 PSMD5 PSMD4 POTEF ACTG1
28 leukocyte disease 9.4 FCGR3B FCGR3A CD19
29 combined t cell and b cell immunodeficiency 9.2 IL7R FCGR3B FCGR3A CD19
30 aggressive nk-cell leukemia 9.2 FCGR3B FCGR3A
31 myeloma, multiple 9.0 MALAT1 FCGR3B FCGR3A CD33 CD19
32 systemic lupus erythematosus 8.6 THBD MALAT1 IL7R FCGR3B FCGR3A CLEC4C
33 inflammatory bowel disease 8.4 S100A12 PSMD4 IL7R FCGR3B FCGR3A CD163
34 leukemia, acute myeloid 7.9 PSMD5 PSMD4 MALAT1 IL7R FCGR3B FCGR3A

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:



Diseases related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Human phenotypes related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 occasional (7.5%) HP:0001645
2 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
3 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
4 left ventricular noncompaction 31 occasional (7.5%) HP:0030682
5 congestive heart failure 31 HP:0001635
6 dilated cardiomyopathy 31 HP:0001644
7 endocardial fibrosis 31 HP:0006685

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
congestive heart failure
left ventricular hypertrophy (in some patients)
left ventricular noncompaction (in some patients)
left ventricular dilation
sigmoid septal shape (in some patients)
more

Clinical features from OMIM:

601493

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction

Genetic Tests for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Genetic tests related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1c 29 LDB3
2 Dilated Cardiomyopathy with Left Ventricular Noncompaction 29
3 Cardiomyopathy, Dilated, 1c, with or Without Lvnc 29
4 Cardiomyopathy, Hypertrophic, 24 29

Anatomical Context for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

40
Heart, Testes

Publications for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Articles related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

(show all 26)
# Title Authors PMID Year
1
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. 6 56
26419279 2016
2
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 56 6
17097056 2006
3
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. 56 6
16427346 2006
4
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 6 56
14660611 2004
5
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 56 6
14662268 2003
6
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
7
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
8
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
9
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
10
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
11
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
12
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
13
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
14
Dilated Cardiomyopathy Overview 6
20301486 2007
15
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
16
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
17
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
18
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
19
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
20
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
21
Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. 56
8823300 1996
22
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
23
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
24
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
25
New-onset heart failure due to heart muscle disease in childhood: a prospective study in the United kingdom and Ireland. 61
18086928 2008
26
Cardiac manifestations in oxidative phosphorylation disorders of childhood. 61
17382120 2007

Variations for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LDB3 NM_007078.3(LDB3):c.617C>T (p.Thr206Ile)SNV Pathogenic 4732 rs121908337 10:88441488-88441488 10:86681731-86681731
2 LDB3 NM_007078.3(LDB3):c.1035C>G (p.Ile345Met)SNV Pathogenic 4730 rs121908336 10:88466426-88466426 10:86706669-86706669
3 LDB3 NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)SNV Conflicting interpretations of pathogenicity 4731 rs45487699 10:88441437-88441437 10:86681680-86681680
4 LDB3 NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)SNV Conflicting interpretations of pathogenicity 45551 rs139922045 10:88441535-88441535 10:86681778-86681778
5 VCL NM_014000.3(VCL):c.2862_2864del (p.Leu955del)deletion Conflicting interpretations of pathogenicity 45602 rs397517237 10:75871782-75871784 10:74112024-74112026
6 LDB3 NM_007078.3(LDB3):c.690-4823G>ASNV Conflicting interpretations of pathogenicity 4733 rs121908338 10:88446830-88446830 10:86687073-86687073
7 RYR2 NM_001035.3(RYR2):c.8209-3A>GSNV Conflicting interpretations of pathogenicity 43829 rs376788358 1:237823282-237823282 1:237659982-237659982
8 LDB3 NM_007078.3(LDB3):c.690-4789A>TSNV Uncertain significance 4734 rs121908339 10:88446864-88446864 10:86687107-86687107
9 LDB3 NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)SNV Uncertain significance 4735 rs45514002 10:88485932-88485932 10:86726175-86726175
10 LDB3 NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)SNV Uncertain significance 426972 rs755362259 10:88476354-88476354 10:86716597-86716597
11 LDB3 NM_007078.3(LDB3):c.690-4682G>CSNV Uncertain significance 532931 rs1000020884 10:88446971-88446971 10:86687214-86687214
12 LDB3 NM_007078.3(LDB3):c.-20C>TSNV Uncertain significance 880080 10:88428429-88428429 10:86668672-86668672
13 LDB3 NM_007078.3(LDB3):c.818G>A (p.Arg273His)SNV Uncertain significance 880174 10:88451781-88451781 10:86692024-86692024
14 LDB3 NM_007078.3(LDB3):c.896+6814G>ASNV Uncertain significance 877397 10:88459142-88459142 10:86699385-86699385
15 LDB3 NM_007078.3(LDB3):c.896+6872G>ASNV Uncertain significance 877398 10:88459200-88459200 10:86699443-86699443
16 LDB3 NM_007078.3(LDB3):c.897-6861G>ASNV Uncertain significance 879009 10:88459427-88459427 10:86699670-86699670
17 LDB3 NM_007078.3(LDB3):c.897-6745C>TSNV Uncertain significance 877456 10:88459543-88459543 10:86699786-86699786
18 LDB3 NM_007078.3(LDB3):c.897-6719C>TSNV Uncertain significance 877457 10:88459569-88459569 10:86699812-86699812
19 LDB3 NM_007078.3(LDB3):c.897-6702C>GSNV Uncertain significance 878478 10:88459586-88459586 10:86699829-86699829
20 LDB3 NM_007078.3(LDB3):c.897-6700G>ASNV Uncertain significance 878479 10:88459588-88459588 10:86699831-86699831
21 LDB3 NM_007078.3(LDB3):c.897-6692C>TSNV Uncertain significance 878480 10:88459596-88459596 10:86699839-86699839
22 LDB3 NM_007078.3(LDB3):c.897-6664G>ASNV Uncertain significance 879063 10:88459624-88459624 10:86699867-86699867
23 LDB3 NM_007078.3(LDB3):c.896+6695T>CSNV Uncertain significance 880175 10:88459023-88459023 10:86699266-86699266
24 LDB3 NM_007078.3(LDB3):c.896+6753C>TSNV Uncertain significance 4729 rs121908335 10:88459081-88459081 10:86699324-86699324
25 LDB3 NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)SNV Uncertain significance 45533 rs145983824 10:88477867-88477867 10:86718110-86718110
26 LDB3 NM_007078.3(LDB3):c.54G>T (p.Gln18His)SNV Uncertain significance 201856 rs149348427 10:88428502-88428502 10:86668745-86668745
27 LDB3 NM_007078.3(LDB3):c.30C>G (p.Pro10=)SNV Uncertain significance 301332 rs766817285 10:88428478-88428478 10:86668721-86668721
28 LDB3 NM_007078.3(LDB3):c.723C>T (p.Ser241=)SNV Uncertain significance 301336 rs200580597 10:88451686-88451686 10:86691929-86691929
29 LDB3 NM_007078.3(LDB3):c.897-6909G>ASNV Uncertain significance 301339 rs532856980 10:88459379-88459379 10:86699622-86699622
30 LDB3 NM_007078.3(LDB3):c.897-6831C>TSNV Uncertain significance 301341 rs886047355 10:88459457-88459457 10:86699700-86699700
31 LDB3 NM_007078.3(LDB3):c.897-6525T>CSNV Uncertain significance 301344 rs886047356 10:88459763-88459763 10:86700006-86700006
32 LDB3 NM_007078.3(LDB3):c.-24+41G>ASNV Uncertain significance 301330 rs45578532 10:88428368-88428368 10:86668611-86668611
33 LDB3 NM_007078.3(LDB3):c.896+6957G>ASNV Uncertain significance 301337 rs886047354 10:88459285-88459285 10:86699528-86699528
34 LDB3 NM_007078.3(LDB3):c.897-6707G>ASNV Uncertain significance 301342 rs537660741 10:88459581-88459581 10:86699824-86699824
35 LDB3 NM_007078.3(LDB3):c.-24+8T>CSNV Benign/Likely benign 138106 rs2803558 10:88428335-88428335 10:86668578-86668578
36 LDB3 NM_007078.3(LDB3):c.690-4842G>ASNV Benign/Likely benign 43875 rs113445294 10:88446811-88446811 10:86687054-86687054
37 LDB3 NM_007078.3(LDB3):c.690-4668T>CSNV Benign/Likely benign 43879 rs76615432 10:88446985-88446985 10:86687228-86687228
38 LDB3 NM_007078.3(LDB3):c.163G>A (p.Val55Ile)SNV Benign/Likely benign 45530 rs3740343 10:88439193-88439193 10:86679436-86679436

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

73
# Symbol AA change Variation ID SNP ID
1 LDB3 p.Ser189Leu VAR_024009 rs45487699
2 LDB3 p.Thr206Ile VAR_024010 rs121908337
3 LDB3 p.Ile345Met VAR_024011 rs121908336
4 LDB3 p.Asp673Asn VAR_024013 rs45514002

Expression for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction.

Pathways for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Pathways related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 S100A12 PSMD5 PSMD4 IL7R FCGR3B FCGR3A
2 11.69 FCGR3A CD33 CD1C CD19
3 11.5 IL7R CD83 CD33 CD1C CD19 CD163
4 11.45 IL7R CD33 CD1C CD19
5 11.04 THBD IL7R CLEC4C CD83 CD1C CD19

GO Terms for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Cellular components related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.24 THBD SDHA S100A12 IL7R FCGR3B FCGR3A
2 plasma membrane GO:0005886 10 THBD S100A12 IL7R FCGR3B FCGR3A CLEC4C
3 integral component of plasma membrane GO:0005887 9.61 THBD FCGR3B FCGR3A CD83 CD6 CD33
4 proteasome accessory complex GO:0022624 9.32 PSMD5 PSMD4
5 external side of plasma membrane GO:0009897 9.28 THBD IL7R FCGR3A CD83 CD6 CD33
6 proteasome regulatory particle, base subcomplex GO:0008540 9.26 PSMD5 PSMD4

Biological processes related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.33 PSMD5 PSMD4 CLEC4C
2 regulation of immune response GO:0050776 9.02 FCGR3B FCGR3A CD33 CD1C CD19
3 proteasome assembly GO:0043248 8.96 PSMD5 PSMD4

Molecular functions related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 IgG binding GO:0019864 8.62 FCGR3B FCGR3A

Sources for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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