MDDGA9
MCID: MSC127
MIFTS: 31

Muscular Dystrophy-Dystroglycanopathy , Type a, 9 (MDDGA9)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 9 57 72 29 6
Walker-Warburg Syndrome or Muscle-Eye Brain Disease, Dag1-Related 57 72
Mddga9 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A9 72
Muscle-Eye-Brain Disease with Bilateral Multicystic Leucodystrophy 58
Meb Disease with Bilateral Multicystic Leucodystrophy 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
death in first days of life (family b)
two unrelated families have been reported (last curated august 2015)


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 9:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

OMIM® : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (616538) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 9, also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related, is related to congenital muscular dystrophy-dystroglycanopathy type a9. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 9 is DAG1 (Dystroglycan 1). Affiliated tissues include eye, brain and pons, and related phenotypes are intellectual disability, severe and absent speech

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a9 11.0

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
2 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
3 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
4 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
5 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
6 polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0002126
7 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
8 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
9 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
10 cerebellar vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001320
11 hypoglycosylation of alpha-dystroglycan 58 31 frequent (33%) Frequent (79-30%) HP:0030046
12 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
13 cerebellar cyst 58 31 frequent (33%) Frequent (79-30%) HP:0002350
14 abnormality of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0007361
15 delayed ability to sit 58 31 frequent (33%) Frequent (79-30%) HP:0025336
16 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
17 agyria 58 31 frequent (33%) Frequent (79-30%) HP:0031882
18 eeg with focal spike waves 58 31 frequent (33%) Frequent (79-30%) HP:0011197
19 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
20 buphthalmos 58 31 occasional (7.5%) Occasional (29-5%) HP:0000557
21 retinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000556
22 high myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011003
23 macrocephaly 31 HP:0000256
24 cerebral calcification 31 HP:0002514
25 hydrocephalus 31 HP:0000238
26 global developmental delay 31 HP:0001263
27 myopia 31 HP:0000545
28 microphthalmia 31 HP:0000568
29 respiratory failure 31 HP:0002878
30 muscular dystrophy 31 HP:0003560
31 generalized hypotonia 31 HP:0001290
32 abnormality of brainstem morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
polymicrogyria
poor head control
dilated ventricles
thin corpus callosum
delayed psychomotor development, severe
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia
absence of immunostaining for alpha-dystroglycan (family a)
absence of immunostaining for alpha- and beta-dystroglycan (family b)

Head And Neck Eyes:
cataract
myopia
glaucoma
microphthalmia
buphthalmos
more
Respiratory:
respiratory failure

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

616538 (Updated 05-Apr-2021)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 9 29 DAG1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

40
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

# Title Authors PMID Year
1
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. 57 6
25934851 2015
2
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. 6 57
24052401 2013
3
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. 6
29337005 2018
4
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities. 6
20234391 2010
5
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. 57
12140559 2002

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

6 (show top 50) (show all 193)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DAG1 NC_000003.12:g.(?_49530787)_(49533209_?)del Deletion Pathogenic 832051 GRCh37: 3:49568220-49570642
GRCh38:
2 overlap with 13 genes NC_000003.12:g.(?_49121216)_(49533209_?)del Deletion Pathogenic 833037 GRCh37: 3:49158649-49570642
GRCh38:
3 DAG1 NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) SNV Pathogenic 208542 rs797045023 GRCh37: 3:49569950-49569950
GRCh38: 3:49532517-49532517
4 DAG1 NM_004393.6(DAG1):c.743del (p.Ala248fs) Deletion Pathogenic 208543 rs869320680 GRCh37: 3:49568687-49568687
GRCh38: 3:49531254-49531254
5 DAG1 NM_004393.6(DAG1):c.440del (p.Gln147fs) Deletion Pathogenic 539125 rs1553652503 GRCh37: 3:49568384-49568384
GRCh38: 3:49530951-49530951
6 DAG1 NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) SNV Pathogenic 654870 rs1334656238 GRCh37: 3:49548202-49548202
GRCh38: 3:49510769-49510769
7 DAG1 NM_004393.6(DAG1):c.285+1G>A SNV Pathogenic 842859 GRCh37: 3:49548253-49548253
GRCh38: 3:49510820-49510820
8 DAG1 NM_004393.6(DAG1):c.330G>A (p.Trp110Ter) SNV Pathogenic 958922 GRCh37: 3:49568274-49568274
GRCh38: 3:49530841-49530841
9 DAG1 NM_004393.6(DAG1):c.454_467del (p.Phe152fs) Deletion Likely pathogenic 471776 rs1553652513 GRCh37: 3:49568398-49568411
GRCh38: 3:49530965-49530978
10 DAG1 NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) SNV Uncertain significance 471771 rs1553653437 GRCh37: 3:49569921-49569921
GRCh38: 3:49532488-49532488
11 DAG1 NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) SNV Uncertain significance 471772 rs201488118 GRCh37: 3:49570085-49570085
GRCh38: 3:49532652-49532652
12 DAG1 NM_004393.6(DAG1):c.193G>A (p.Val65Ile) SNV Uncertain significance 471770 rs757379579 GRCh37: 3:49548160-49548160
GRCh38: 3:49510727-49510727
13 DAG1 NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln) SNV Uncertain significance 282862 rs199933395 GRCh37: 3:49570505-49570505
GRCh38: 3:49533072-49533072
14 DAG1 NM_004393.6(DAG1):c.1966G>A (p.Val656Met) SNV Uncertain significance 539126 rs1313375346 GRCh37: 3:49569910-49569910
GRCh38: 3:49532477-49532477
15 DAG1 NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) SNV Uncertain significance 539127 rs1553653701 GRCh37: 3:49570247-49570247
GRCh38: 3:49532814-49532814
16 DAG1 NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) SNV Uncertain significance 539128 rs749962207 GRCh37: 3:49568368-49568368
GRCh38: 3:49530935-49530935
17 DAG1 NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) SNV Uncertain significance 539129 rs140454570 GRCh37: 3:49548235-49548235
GRCh38: 3:49510802-49510802
18 DAG1 NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) SNV Uncertain significance 539130 rs376508721 GRCh37: 3:49569433-49569433
GRCh38: 3:49532000-49532000
19 DAG1 NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) Deletion Uncertain significance 539133 rs1553653093 GRCh37: 3:49569436-49569438
GRCh38: 3:49532003-49532005
20 DAG1 NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) SNV Uncertain significance 566811 rs1559581311 GRCh37: 3:49570189-49570189
GRCh38: 3:49532756-49532756
21 DAG1 NM_004393.6(DAG1):c.712A>G (p.Met238Val) SNV Uncertain significance 568274 rs148238809 GRCh37: 3:49568656-49568656
GRCh38: 3:49531223-49531223
22 DAG1 NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) SNV Uncertain significance 497562 rs772976299 GRCh37: 3:49568567-49568567
GRCh38: 3:49531134-49531134
23 DAG1 NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) SNV Uncertain significance 571453 rs141562264 GRCh37: 3:49570423-49570423
GRCh38: 3:49532990-49532990
24 DAG1 NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) SNV Uncertain significance 571881 rs1559579950 GRCh37: 3:49569649-49569649
GRCh38: 3:49532216-49532216
25 DAG1 NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) SNV Uncertain significance 572700 rs1436774690 GRCh37: 3:49570532-49570532
GRCh38: 3:49533099-49533099
26 DAG1 NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) SNV Uncertain significance 573390 rs1426926145 GRCh37: 3:49570310-49570310
GRCh38: 3:49532877-49532877
27 DAG1 NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) SNV Uncertain significance 196383 rs376602004 GRCh37: 3:49568909-49568909
GRCh38: 3:49531476-49531476
28 DAG1 NM_004393.6(DAG1):c.2124G>A (p.Thr708=) SNV Uncertain significance 576214 rs140204495 GRCh37: 3:49570068-49570068
GRCh38: 3:49532635-49532635
29 DAG1 NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) SNV Uncertain significance 579120 rs745559790 GRCh37: 3:49568846-49568846
GRCh38: 3:49531413-49531413
30 DAG1 NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) SNV Uncertain significance 581955 rs142703906 GRCh37: 3:49569487-49569487
GRCh38: 3:49532054-49532054
31 DAG1 NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) SNV Uncertain significance 582771 rs199501149 GRCh37: 3:49547990-49547990
GRCh38: 3:49510557-49510557
32 DAG1 NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) SNV Uncertain significance 374069 rs752813826 GRCh37: 3:49568876-49568876
GRCh38: 3:49531443-49531443
33 DAG1 NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro) SNV Uncertain significance 644419 rs775365808 GRCh37: 3:49570480-49570480
GRCh38: 3:49533047-49533047
34 DAG1 NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu) SNV Uncertain significance 646355 rs200334256 GRCh37: 3:49569791-49569791
GRCh38: 3:49532358-49532358
35 DAG1 NM_004393.6(DAG1):c.576G>A (p.Thr192=) SNV Uncertain significance 646566 rs746894568 GRCh37: 3:49568520-49568520
GRCh38: 3:49531087-49531087
36 DAG1 NM_004393.6(DAG1):c.854C>T (p.Ala285Val) SNV Uncertain significance 647093 rs1235865427 GRCh37: 3:49568798-49568798
GRCh38: 3:49531365-49531365
37 DAG1 NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp) SNV Uncertain significance 649249 rs544574838 GRCh37: 3:49569313-49569313
GRCh38: 3:49531880-49531880
38 DAG1 NM_004393.6(DAG1):c.1829C>T (p.Ala610Val) SNV Uncertain significance 650337 rs537920451 GRCh37: 3:49569773-49569773
GRCh38: 3:49532340-49532340
39 DAG1 NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp) SNV Uncertain significance 651687 rs1223724355 GRCh37: 3:49570286-49570286
GRCh38: 3:49532853-49532853
40 DAG1 NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) SNV Uncertain significance 286590 rs752441031 GRCh37: 3:49570270-49570270
GRCh38: 3:49532837-49532837
41 DAG1 NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys) SNV Uncertain significance 654010 rs147831615 GRCh37: 3:49570579-49570579
GRCh38: 3:49533146-49533146
42 DAG1 NM_004393.6(DAG1):c.552G>A (p.Ala184=) SNV Uncertain significance 849305 GRCh37: 3:49568496-49568496
GRCh38: 3:49531063-49531063
43 DAG1 NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr) SNV Uncertain significance 861070 GRCh37: 3:49569869-49569869
GRCh38: 3:49532436-49532436
44 DAG1 NM_004393.6(DAG1):c.735G>A (p.Pro245=) SNV Uncertain significance 196387 rs748164001 GRCh37: 3:49568679-49568679
GRCh38: 3:49531246-49531246
45 DAG1 NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu) SNV Uncertain significance 283029 rs200233956 GRCh37: 3:49568990-49568990
GRCh38: 3:49531557-49531557
46 DAG1 NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) SNV Uncertain significance 539122 rs754079735 GRCh37: 3:49570520-49570520
GRCh38: 3:49533087-49533087
47 DAG1 NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala) SNV Uncertain significance 539123 rs779846682 GRCh37: 3:49569130-49569130
GRCh38: 3:49531697-49531697
48 DAG1 NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu) SNV Uncertain significance 539124 rs141697036 GRCh37: 3:49570044-49570044
GRCh38: 3:49532611-49532611
49 DAG1 NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser) SNV Uncertain significance 931246 GRCh37: 3:49569739-49569739
GRCh38: 3:49532306-49532306
50 DAG1 NM_004393.6(DAG1):c.551C>T (p.Ala184Val) SNV Uncertain significance 935434 GRCh37: 3:49568495-49568495
GRCh38: 3:49531062-49531062

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

72
# Symbol AA change Variation ID SNP ID
1 DAG1 p.Cys669Phe VAR_075811 rs797045023

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 9.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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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