CMH4
MCID: CRD085
MIFTS: 34

Cardiomyopathy, Familial Hypertrophic, 4 (CMH4)

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 4

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 4:

Name: Cardiomyopathy, Familial Hypertrophic, 4 57 12 13 73
Cmh4 57 12 75
Familial Hypertrophic Cardiomyopathy 4 29 6
Hypertrophic Cardiomyopathy 4 12 15
Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility to 6
Cardiomyopathy, Hypertrophic, Familial, Type 4 40
Cardiomyopathy, Familial Hypertrophic 4 75
Cardiomyopathy, Hypertrophic, 4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (11p13-q13)
other forms at loci on chromosomes 1, 14, 15 and at least one other locus


HPO:

32
cardiomyopathy, familial hypertrophic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115197
Disease Ontology 12 DOID:0110310
MeSH 44 D024741
SNOMED-CT via HPO 69 263681008 233873004 45227007
UMLS 73 C1861862

Summaries for Cardiomyopathy, Familial Hypertrophic, 4

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic 4: 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.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 4, also known as cmh4, is related to hypertrophic cardiomyopathy and newborn respiratory distress syndrome. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 4 is MYBPC3 (Myosin Binding Protein C, Cardiac), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include heart, and related phenotypes are hypertrophic cardiomyopathy and Reduced mammosphere formation

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

Description from OMIM: 115197

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 4

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 19
Cardiomyopathy, Familial Hypertrophic, 20 Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Diseases related to Cardiomyopathy, Familial Hypertrophic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrophic cardiomyopathy 29.0 MYBPC2 MYBPC3 TTN
2 newborn respiratory distress syndrome 10.0 BRAF TTN
3 familial isolated dilated cardiomyopathy 10.0 MYBPC3 TTN
4 restrictive cardiomyopathy 9.9 MYBPC3 TTN
5 intrinsic cardiomyopathy 9.5 MYBPC2 MYBPC3 TTN
6 distal arthrogryposis 9.5 MYBPC1 MYBPC2
7 atrial standstill 1 9.4 MYBPC1 MYBPC3 TTN
8 trehalase deficiency 9.0 BRAF MYBPC3 TTN
9 dilated cardiomyopathy 8.7 MYBPC1 MYBPC2 MYBPC3 TTN

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 4:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 4

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 4

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
hypertrophic cardiomyopathy


Clinical features from OMIM:

115197

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 BRAF MYBPC1 MYBPC3 NCF1

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 BRAF MYBPC3 NCF1 TTN

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 4

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 4

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 4

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 4:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 4 29 MYBPC3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 4

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 4:

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 4

Variations for Cardiomyopathy, Familial Hypertrophic, 4

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 4:

75 (show top 50) (show all 65)
# Symbol AA change Variation ID SNP ID
1 MYBPC3 p.Glu542Gln VAR_003917 rs121909374
2 MYBPC3 p.Arg654His VAR_003918 rs1800565
3 MYBPC3 p.Asn755Lys VAR_003919
4 MYBPC3 p.His257Pro VAR_019889
5 MYBPC3 p.Glu258Lys VAR_019890 rs397516074
6 MYBPC3 p.Gly278Glu VAR_019891 rs147315081
7 MYBPC3 p.Gly279Ala VAR_019892 rs375774648
8 MYBPC3 p.Leu352Pro VAR_019894
9 MYBPC3 p.Arg502Trp VAR_019895 rs375882485
10 MYBPC3 p.Lys811Arg VAR_019897
11 MYBPC3 p.Ala833Val VAR_019898 rs3729952
12 MYBPC3 p.Ala1194Thr VAR_019900 rs397516026
13 MYBPC3 p.Ala1255Thr VAR_019901 rs727503167
14 MYBPC3 p.Gln998Glu VAR_020574 rs11570112
15 MYBPC3 p.Glu451Gln VAR_027879
16 MYBPC3 p.Arg495Gln VAR_027880 rs200411226
17 MYBPC3 p.Arg502Gln VAR_027881 rs397515907
18 MYBPC3 p.Gly5Arg VAR_029390 rs201278114
19 MYBPC3 p.Thr59Ala VAR_029391 rs121909375
20 MYBPC3 p.Pro161Ser VAR_029392
21 MYBPC3 p.Val219Leu VAR_029393 rs397516068
22 MYBPC3 p.Asp228Asn VAR_029394 rs369300885
23 MYBPC3 p.Tyr237Ser VAR_029395 rs397516070
24 MYBPC3 p.Val256Ile VAR_029396
25 MYBPC3 p.Arg282Trp VAR_029397 rs727504234
26 MYBPC3 p.Arg458His VAR_029399 rs374255707
27 MYBPC3 p.Gly490Arg VAR_029400 rs200625851
28 MYBPC3 p.Gly507Arg VAR_029401 rs35736435
29 MYBPC3 p.Gly523Trp VAR_029402
30 MYBPC3 p.Cys566Arg VAR_029404 rs730880695
31 MYBPC3 p.Asp604Val VAR_029405
32 MYBPC3 p.Pro608Leu VAR_029407
33 MYBPC3 p.Arg668His VAR_029408 rs727503191
34 MYBPC3 p.Arg668Pro VAR_029409
35 MYBPC3 p.Asp770Asn VAR_029411 rs36211723
36 MYBPC3 p.Trp792Arg VAR_029412 rs187830361
37 MYBPC3 p.Arg810His VAR_029413 rs375675796
38 MYBPC3 p.Arg820Gln VAR_029416 rs2856655
39 MYBPC3 p.Ala833Thr VAR_029417 rs199865688
40 MYBPC3 p.Arg834Thr VAR_029418
41 MYBPC3 p.Pro873His VAR_029420 rs371401403
42 MYBPC3 p.Asn948Thr VAR_029421 rs121909376
43 MYBPC3 p.Gln998Arg VAR_029422 rs727503177
44 MYBPC3 p.Arg1002Gln VAR_029423 rs727504235
45 MYBPC3 p.Pro1003Gln VAR_029425
46 MYBPC3 p.Phe1113Ile VAR_029426
47 MYBPC3 p.Val1115Ile VAR_029427 rs531189495
48 MYBPC3 p.Gly263Arg VAR_042740 rs373730381
49 MYBPC3 p.Ala417Ser VAR_042742
50 MYBPC3 p.Leu669His VAR_042743

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 4:

6
(show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> A single nucleotide variant Pathogenic rs373746463 GRCh37 Chromosome 11, 47354740: 47354740
2 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> A single nucleotide variant Pathogenic rs373746463 GRCh38 Chromosome 11, 47333189: 47333189
3 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh38 Chromosome 11, 47332127: 47332144
4 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh37 Chromosome 11, 47353678: 47353695
5 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
6 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
7 MYBPC3 NM_000256.3(MYBPC3): c.2309-26A> G single nucleotide variant Pathogenic rs886041030 GRCh37 Chromosome 11, 47359371: 47359371
8 MYBPC3 NM_000256.3(MYBPC3): c.2309-26A> G single nucleotide variant Pathogenic rs886041030 GRCh38 Chromosome 11, 47337820: 47337820
9 MYBPC3 NM_000256.3(MYBPC3): c.3659_3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs) indel Pathogenic rs886041031 GRCh37 Chromosome 11, 47353775: 47353778
10 MYBPC3 NM_000256.3(MYBPC3): c.3659_3662delACCTinsTTCAAGAATGGC (p.Asp1220Valfs) indel Pathogenic rs886041031 GRCh38 Chromosome 11, 47332224: 47332227
11 MYBPC3 NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala) single nucleotide variant Pathogenic rs121909375 GRCh37 Chromosome 11, 47372907: 47372907
12 MYBPC3 NM_000256.3(MYBPC3): c.175A> G (p.Thr59Ala) single nucleotide variant Pathogenic rs121909375 GRCh38 Chromosome 11, 47351356: 47351356
13 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh37 Chromosome 11, 47354789: 47354789
14 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh38 Chromosome 11, 47333238: 47333238
15 MYBPC3 NM_000256.3(MYBPC3): c.906-1G> C single nucleotide variant Pathogenic rs587776700 GRCh38 Chromosome 11, 47347030: 47347030
16 MYBPC3 NM_000256.3(MYBPC3): c.906-1G> C single nucleotide variant Pathogenic rs587776700 GRCh37 Chromosome 11, 47368581: 47368581
17 MYBPC3 NM_000256.3(MYBPC3): c.3628-34_3628-10del deletion risk factor rs397514444 GRCh37 Chromosome 11, 47353819: 47353843
18 MYBPC3 NM_000256.3(MYBPC3): c.3628-34_3628-10del deletion risk factor rs397514444 GRCh38 Chromosome 11, 47332268: 47332292
19 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh37 Chromosome 11, 47354743: 47354743
20 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh38 Chromosome 11, 47333192: 47333192
21 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh37 Chromosome 11, 47360071: 47360071
22 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh38 Chromosome 11, 47338520: 47338520
23 MYBPC3 NM_000256.3(MYBPC3): c.932C> A (p.Ser311Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922386 GRCh37 Chromosome 11, 47367916: 47367916
24 MYBPC3 NM_000256.3(MYBPC3): c.932C> A (p.Ser311Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922386 GRCh38 Chromosome 11, 47346365: 47346365
25 MYBPC3 NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic rs387907267 GRCh37 Chromosome 11, 47356671: 47356671
26 MYBPC3 NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic rs387907267 GRCh38 Chromosome 11, 47335120: 47335120
27 MYBPC3 NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397515907 GRCh37 Chromosome 11, 47364248: 47364248
28 MYBPC3 NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397515907 GRCh38 Chromosome 11, 47342697: 47342697
29 MYBPC3 NM_000256.3(MYBPC3): c.1800delA (p.Lys600Asnfs) deletion Pathogenic rs397515926 GRCh37 Chromosome 11, 47362786: 47362786
30 MYBPC3 NM_000256.3(MYBPC3): c.1800delA (p.Lys600Asnfs) deletion Pathogenic rs397515926 GRCh38 Chromosome 11, 47341235: 47341235
31 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh37 Chromosome 11, 47361343: 47361343
32 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh38 Chromosome 11, 47339792: 47339792
33 MYBPC3 NM_000256.3(MYBPC3): c.2308+1G> A single nucleotide variant Pathogenic rs112738974 GRCh37 Chromosome 11, 47360070: 47360070
34 MYBPC3 NM_000256.3(MYBPC3): c.2308+1G> A single nucleotide variant Pathogenic rs112738974 GRCh38 Chromosome 11, 47338519: 47338519
35 MYBPC3 NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs) duplication Pathogenic rs397515963 GRCh37 Chromosome 11, 47359281: 47359281
36 MYBPC3 NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs) duplication Pathogenic rs397515963 GRCh38 Chromosome 11, 47337730: 47337730
37 MYBPC3 NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs) deletion Pathogenic rs397515973 GRCh37 Chromosome 11, 47359006: 47359010
38 MYBPC3 NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs) deletion Pathogenic rs397515973 GRCh38 Chromosome 11, 47337455: 47337459
39 MYBPC3 NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397515974 GRCh37 Chromosome 11, 47359003: 47359003
40 MYBPC3 NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397515974 GRCh38 Chromosome 11, 47337452: 47337452
41 MYBPC3 NM_000256.3(MYBPC3): c.2833_2834delCG (p.Arg945Glyfs) deletion Pathogenic rs397515987 GRCh37 Chromosome 11, 47356664: 47356665
42 MYBPC3 NM_000256.3(MYBPC3): c.2833_2834delCG (p.Arg945Glyfs) deletion Pathogenic rs397515987 GRCh38 Chromosome 11, 47335113: 47335114
43 MYBPC3 NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs) deletion Pathogenic/Likely pathogenic rs397515990 GRCh37 Chromosome 11, 47356633: 47356634
44 MYBPC3 NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs) deletion Pathogenic/Likely pathogenic rs397515990 GRCh38 Chromosome 11, 47335082: 47335083
45 MYBPC3 NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter) single nucleotide variant Pathogenic rs397515992 GRCh37 Chromosome 11, 47356593: 47356593
46 MYBPC3 NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter) single nucleotide variant Pathogenic rs397515992 GRCh38 Chromosome 11, 47335042: 47335042
47 MYBPC3 NM_000256.3(MYBPC3): c.3181C> T (p.Gln1061Ter) single nucleotide variant Pathogenic rs397516005 GRCh37 Chromosome 11, 47355117: 47355117
48 MYBPC3 NM_000256.3(MYBPC3): c.3181C> T (p.Gln1061Ter) single nucleotide variant Pathogenic rs397516005 GRCh38 Chromosome 11, 47333566: 47333566
49 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> C single nucleotide variant Pathogenic rs373746463 GRCh37 Chromosome 11, 47354740: 47354740
50 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> C single nucleotide variant Pathogenic rs373746463 GRCh38 Chromosome 11, 47333189: 47333189

Expression for Cardiomyopathy, Familial Hypertrophic, 4

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 4.

Pathways for Cardiomyopathy, Familial Hypertrophic, 4

GO Terms for Cardiomyopathy, Familial Hypertrophic, 4

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.85 BRAF MYBPC1 MYBPC2 MYBPC3 NCF1 TTN
2 Z disc GO:0030018 9.62 MYBPC1 MYBPC2 MYBPC3 TTN
3 M band GO:0031430 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
4 myosin filament GO:0032982 9.43 MYBPC1 MYBPC2 MYBPC3
5 muscle myosin complex GO:0005859 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
6 striated muscle thin filament GO:0005865 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.63 MYBPC1 MYBPC2 MYBPC3
2 actin filament organization GO:0007015 9.62 MYBPC1 MYBPC2 MYBPC3 TTN
3 sarcomere organization GO:0045214 9.56 MYBPC1 MYBPC2 MYBPC3 TTN
4 muscle contraction GO:0006936 9.54 MYBPC1 MYBPC2 TTN
5 muscle filament sliding GO:0030049 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
6 electron transport chain GO:0022900 9.43 COX8A NCF1
7 cardiac muscle contraction GO:0060048 9.4 MYBPC3 TTN
8 striated muscle contraction GO:0006941 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
9 striated muscle myosin thick filament assembly GO:0071688 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.56 MYBPC1 MYBPC2 MYBPC3 TTN
2 structural constituent of muscle GO:0008307 9.46 MYBPC1 MYBPC2 MYBPC3 TTN
3 titin binding GO:0031432 9.32 MYBPC1 MYBPC3
4 muscle alpha-actinin binding GO:0051371 9.26 MYBPC1 MYBPC2 MYBPC3 TTN
5 structural molecule activity conferring elasticity GO:0097493 8.92 MYBPC1 MYBPC2 MYBPC3 TTN

Sources for Cardiomyopathy, Familial Hypertrophic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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