MCID: MSC059
MIFTS: 39

Muscular Dystrophy, Limb-Girdle, Type 2l

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2l

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2l:

Name: Muscular Dystrophy, Limb-Girdle, Type 2l 57 12 53 13 73
Lgmd2l 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 12 53 59 15
Limb-Girdle Muscular Dystrophy, Type 2l 29 6
Dystrophy, Muscular, Limb-Girdle, Type 2l 40
Limb-Girdle Muscular Dystrophy Type 2l 53
Limb-Girdle Muscular Dystrophy 2l 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2l
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
intrafamilial variability
range of onset 11 to 50 years
patients may become wheelchair-bound after about 12 years
allelic disorder to miyoshi muscular dystrophy 3 (mmd3, )


HPO:

32
muscular dystrophy, limb-girdle, type 2l:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 611307
Disease Ontology 12 DOID:0110284
ICD10 33 G71.0
Orphanet 59 ORPHA206549
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1969785
MedGen 42 C1969785
MeSH 44 D049288
UMLS 73 C1969785

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2l

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2L: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2l, also known as lgmd2l, is related to muscular dystrophy and isolated hyperckemia, and has symptoms including myalgia An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2l is ANO5 (Anoctamin 5), and among its related pathways/superpathways are Other types of O-glycan biosynthesis and Mannose type O-glycan biosynthesis. Affiliated tissues include skeletal muscle, and related phenotypes are facial palsy and elevated serum creatine phosphokinase

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.

Description from OMIM: 611307

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2l

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2l via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 25.5 ANO5 DYSF FKRP FKTN POMT1 POMT2
2 isolated hyperckemia 10.3 ANO5 FKRP
3 anterior compartment syndrome 10.3 ANO5 DYSF
4 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 ANO5 DYSF
5 muscular dystrophy, limb-girdle, type 1c 10.2 DYSF FKRP
6 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 DYSF FKRP
7 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 DYSF FKRP
8 muscular dystrophy, limb-girdle, type 2h 10.1 DYSF FKRP
9 muscular dystrophy, limb-girdle, type 2d 10.1 DYSF FKRP
10 muscular dystrophy, limb-girdle, type 2g 10.1 DYSF FKRP
11 muscular dystrophy, limb-girdle, type 1e 10.0 FKRP TRAPPC11
12 muscular dystrophy, limb-girdle, type 2f 10.0 DYSF FKRP
13 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 DYSF FKRP
14 muscular dystrophy, limb-girdle, type 2b 10.0 DYSF FKRP
15 distal muscular dystrophy 10.0 ANO5 DYSF
16 muscular dystrophy, congenital, 1b 9.8 FKRP FKTN
17 congenital muscular dystrophy with intellectual disability 9.6 FKRP POMT1 POMT2
18 congenital muscular dystrophy with cerebellar involvement 9.6 FKRP POMT1 POMT2
19 muscular dystrophy-dystroglycanopathy 9.6 FKRP POMT1 POMT2
20 muscular dystrophy-dystroglycanopathy , type c, 1 9.5 POMT1 POMT2 TRAPPC11
21 muscular dystrophy-dystroglycanopathy , type c, 2 9.5 POMT1 POMT2 TRAPPC11
22 muscular dystrophy, becker type 9.5 DYSF FKTN
23 lissencephaly 9.3 FKRP FKTN
24 congenital nervous system abnormality 9.2 FKTN POMT1
25 congenital muscular dystrophy without intellectual disability 9.2 FKRP FKTN POMT1
26 ablepharon-macrostomia syndrome 9.1 FKRP FKTN POMT1
27 muscular dystrophy, congenital, lmna-related 9.1 FKRP FKTN POMT1
28 autosomal recessive limb-girdle muscular dystrophy 9.1 ANO5 DYSF FKRP POMT1
29 myopathy 9.0 ANO5 DYSF FKRP
30 muscle tissue disease 8.8 ANO5 DYSF FKRP FKTN
31 muscular dystrophy-dystroglycanopathy , type c, 4 8.8 FKRP FKTN POMT2 TRAPPC11
32 muscular dystrophy-dystroglycanopathy , type a, 1 8.7 FKRP FKTN POMT1 POMT2
33 muscular dystrophy-dystroglycanopathy , type b, 6 8.7 FKRP FKTN POMT1 POMT2
34 muscular dystrophy-dystroglycanopathy , type a, 4 8.7 FKRP FKTN POMT1 POMT2
35 muscular dystrophy-dystroglycanopathy , type b, 5 8.7 FKRP FKTN POMT1 POMT2
36 muscle eye brain disease 8.6 FKRP FKTN POMT1 POMT2
37 walker-warburg syndrome 8.6 FKRP FKTN POMT1 POMT2
38 limb-girdle muscular dystrophy 7.5 ANO5 DYSF FKRP FKTN POMT1 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2l:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2l

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2l

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myalgia
proximal muscle weakness
shoulder girdle muscle weakness
emg shows myopathic changes
skeletal muscle biopsy shows dystrophic changes
more
Head And Neck Face:
mild facial weakness (less common)

Laboratory Abnormalities:
normal or increased serum creatine kinase


Clinical features from OMIM:

611307

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2l:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 facial palsy 32 HP:0010628
2 elevated serum creatine phosphokinase 32 frequent (33%) HP:0003236
3 myalgia 32 HP:0003326
4 muscular dystrophy 32 HP:0003560
5 proximal muscle weakness 32 HP:0003701
6 calf muscle hypertrophy 32 HP:0008981
7 pelvic girdle muscle weakness 32 HP:0003749
8 shoulder girdle muscle weakness 32 HP:0003547
9 emg 32 HP:0003458

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 2l:


myalgia

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2l:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ANO5 DYSF FKRP FKTN POMT1

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2l

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2l

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2l

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2l:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2l 29 ANO5

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2l

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2l:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 2l

Articles related to Muscular Dystrophy, Limb-Girdle, Type 2l:

# Title Authors Year
1
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. ( 24843231 )
2014
2
Macular dystrophy presenting in one of two siblings with limb-girdle muscular dystrophy type 2L due to mutation of ANO5. ( 24232312 )
2014
3
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. ( 25291917 )
2014
4
Muscle MRI findings in limb girdle muscular dystrophy type 2L. ( 22980763 )
2012

Variations for Muscular Dystrophy, Limb-Girdle, Type 2l

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2l:

6
(show top 50) (show all 204)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh37 Chromosome 11, 22277031: 22277031
2 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh38 Chromosome 11, 22255485: 22255485
3 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
4 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
5 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh37 Chromosome 11, 22257752: 22257752
6 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh38 Chromosome 11, 22236206: 22236206
7 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh37 Chromosome 11, 22296151: 22296151
8 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh38 Chromosome 11, 22274605: 22274605
9 ANO5 NM_213599.2(ANO5): c.1407+5G> A single nucleotide variant Pathogenic rs281865464 GRCh37 Chromosome 11, 22279305: 22279305
10 ANO5 NM_213599.2(ANO5): c.1407+5G> A single nucleotide variant Pathogenic rs281865464 GRCh38 Chromosome 11, 22257759: 22257759
11 ANO5 NM_213599.2(ANO5): c.2311_2312delCA (p.Gln771Alafs) deletion Pathogenic rs137854528 GRCh37 Chromosome 11, 22296190: 22296191
12 ANO5 NM_213599.2(ANO5): c.2311_2312delCA (p.Gln771Alafs) deletion Pathogenic rs137854528 GRCh38 Chromosome 11, 22274644: 22274645
13 ANO5 ANO5, IVS14DS, G-A, +5 single nucleotide variant Pathogenic
14 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh37 Chromosome 11, 22242704: 22242704
15 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh38 Chromosome 11, 22221158: 22221158
16 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398124625 GRCh37 Chromosome 11, 22225349: 22225349
17 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398124625 GRCh38 Chromosome 11, 22203803: 22203803
18 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh37 Chromosome 11, 22271893: 22271893
19 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh38 Chromosome 11, 22250347: 22250347
20 ANO5 NM_213599.2(ANO5): c.1733T> C (p.Phe578Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137854526 GRCh38 Chromosome 11, 22262231: 22262231
21 ANO5 NM_213599.2(ANO5): c.1733T> C (p.Phe578Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137854526 GRCh37 Chromosome 11, 22283777: 22283777
22 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh38 Chromosome 11, 22270431: 22270431
23 ANO5 NM_213599.2(ANO5): c.2018A> G (p.Tyr673Cys) single nucleotide variant Pathogenic rs137854527 GRCh37 Chromosome 11, 22291977: 22291977
24 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh37 Chromosome 11, 22281177: 22281177
25 ANO5 NM_213599.2(ANO5): c.1520delT (p.Phe507Serfs) deletion Pathogenic rs794727158 GRCh38 Chromosome 11, 22259631: 22259631
26 ANO5 NM_213599.2(ANO5): c.1709C> G (p.Ser570Ter) single nucleotide variant Pathogenic rs765262083 GRCh37 Chromosome 11, 22283753: 22283753
27 ANO5 NM_213599.2(ANO5): c.1709C> G (p.Ser570Ter) single nucleotide variant Pathogenic rs765262083 GRCh38 Chromosome 11, 22262207: 22262207
28 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh37 Chromosome 11, 22284590: 22284590
29 ANO5 NM_213599.2(ANO5): c.1898+1G> A single nucleotide variant Pathogenic rs142027093 GRCh38 Chromosome 11, 22263044: 22263044
30 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh37 Chromosome 11, 22294472: 22294478
31 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh38 Chromosome 11, 22272926: 22272932
32 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh37 Chromosome 11, 22294476: 22294476
33 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh38 Chromosome 11, 22272930: 22272930
34 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh37 Chromosome 11, 22294441: 22294441
35 ANO5 NM_213599.2(ANO5): c.2141C> G (p.Thr714Ser) single nucleotide variant Uncertain significance rs200631556 GRCh38 Chromosome 11, 22272895: 22272895
36 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign rs61910685 GRCh37 Chromosome 11, 22296266: 22296266
37 ANO5 NM_213599.2(ANO5): c.2387C> T (p.Ser796Leu) single nucleotide variant Benign rs61910685 GRCh38 Chromosome 11, 22274720: 22274720
38 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh37 Chromosome 11, 22297728: 22297730
39 ANO5 NM_213599.2(ANO5): c.2503_2505delTTC (p.Phe835del) deletion Conflicting interpretations of pathogenicity rs794727350 GRCh38 Chromosome 11, 22276182: 22276184
40 ANO5 NM_213599.2(ANO5): c.2521C> G (p.His841Asp) single nucleotide variant Pathogenic/Likely pathogenic rs781027702 GRCh37 Chromosome 11, 22301090: 22301090
41 ANO5 NM_213599.2(ANO5): c.2521C> G (p.His841Asp) single nucleotide variant Pathogenic/Likely pathogenic rs781027702 GRCh38 Chromosome 11, 22279544: 22279544
42 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh37 Chromosome 11, 22301267: 22301267
43 ANO5 NM_213599.2(ANO5): c.2698A> C (p.Met900Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148293985 GRCh38 Chromosome 11, 22279721: 22279721
44 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201725369 GRCh37 Chromosome 11, 22239825: 22239825
45 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201725369 GRCh38 Chromosome 11, 22218279: 22218279
46 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh37 Chromosome 11, 22239808: 22239808
47 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh38 Chromosome 11, 22218262: 22218262
48 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh37 Chromosome 11, 22242756: 22242756
49 ANO5 NM_213599.2(ANO5): c.294G> A (p.Ala98=) single nucleotide variant Conflicting interpretations of pathogenicity rs142858990 GRCh38 Chromosome 11, 22221210: 22221210
50 ANO5 NM_213599.2(ANO5): c.201_205delCAAAG (p.Ser67Argfs) deletion Pathogenic rs794727745 GRCh37 Chromosome 11, 22242663: 22242667

Expression for Muscular Dystrophy, Limb-Girdle, Type 2l

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2l.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2l

Pathways related to Muscular Dystrophy, Limb-Girdle, Type 2l according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.3 POMT1 POMT2
2 10.29 FKRP FKTN POMT1 POMT2

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2l

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.02 ANO5 FKRP FKTN POMT1 POMT2
2 sarcolemma GO:0042383 8.96 DYSF FKRP

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 2l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.37 POMT1 POMT2
2 mannosylation GO:0097502 9.32 POMT1 POMT2
3 ER-associated misfolded protein catabolic process GO:0071712 9.26 POMT1 POMT2
4 protein glycosylation GO:0006486 9.26 FKRP FKTN POMT1 POMT2
5 positive regulation of protein O-linked glycosylation GO:1904100 9.16 POMT1 POMT2
6 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN POMT1 POMT2

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Type 2l according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 8.96 POMT1 POMT2
2 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Muscular Dystrophy, Limb-Girdle, Type 2l

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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38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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