MASA
MCID: MSS001
MIFTS: 47

Masa Syndrome (MASA)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Masa Syndrome

MalaCards integrated aliases for Masa Syndrome:

Name: Masa Syndrome 58 12 77 60 76 38 56 15 74
L1 Syndrome 12 25 54 26 60 38 30
Crash Syndrome 58 12 54 26 60 13
X-Linked Hydrocephalus Syndrome 26 30 6 74
Spg1 58 12 76
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome 54 60
Adducted Thumb with Mental Retardation 58 76
Clasped Thumb and Mental Retardation 58 76
Spastic Paraplegia 1, X-Linked 58 76
Gareis-Mason Syndrome 58 12
L1cam Syndrome 54 60
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome 26
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus 76
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs Syndrome 76
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome 60
Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs 58
X-Linked Complicated Hereditary Spastic Paraplegia Type 1 12
Thumb, Congenital Clasped, with Mental Retardation 58
Adducted Thumbs-Mental Retardation Syndrome 26
Mental Retardation-Clasped Thumb Syndrome 26
Spastic Paraplegia 1, X-Linked; Spg1 58
Spastic Paraplegia Type 1, X-Linked 77
X-Linked Corpus Callosum Agenesis 12
Hereditary Spastic Paraplegia 1 12
X-Linked Spastic Paraplegia 1 12
Spastic Paraplegia 1 76
Masa Syndrome ) 41
Masa Syndrome 45
L1 Spectrum 25
L1 Disease 25
Crash 76
Masa 76

Characteristics:

Orphanet epidemiological data:

60
masa syndrome
Inheritance: X-linked recessive; Age of onset: Neonatal;
l1 syndrome
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
masa is an acronym - mental retardation, adducted thumbs, shuffling gait, and aphasia
crash is an acronym for corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus which encompasses all l1cam diseases


HPO:

33
masa syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Masa Syndrome

OMIM : 58 The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see 182600), and autosomal recessive (see 270800) forms of SPG have been described. Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by Bianchine and Lewis (1974), because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed (Winter et al., 1989). See 314100 for isolated X-linked congenital clasped thumb and 201550 for an autosomal adducted thumbs syndrome. (303350)

MalaCards based summary : Masa Syndrome, also known as l1 syndrome, is related to spastic paraplegia 3, autosomal dominant and spastic paraparesis, and has symptoms including muscle spasticity An important gene associated with Masa Syndrome is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Axon guidance and Cell adhesion molecules (CAMs). Affiliated tissues include testes, brain and skeletal muscle, and related phenotypes are hydrocephalus and depressivity

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.

Genetics Home Reference : 26 L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity and include, from most severe to least, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.

NIH Rare Diseases : 54 L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most severe of all; MASA syndrome (intellectual disability, aphasia (delayed speech), spastic paraplegia (shuffling gait), adducted thumbs); SPG1 (X-linked complicated hereditary spastic paraplegia type 1) X-linked complicated corpus callosum agenesis. It is inherited in an X-linked manner; therefore, it only affects males. It is caused by alterations (mutations) in L1CAM gene. The diagnosis is made in males who have the clinical and neurologic findings and a family history consistent with X-linked inheritance and is confirmed by a genetic test showing the L1CAM gene mutation. The treatment involves doing a surgery for the hydrocephalus.

UniProtKB/Swiss-Prot : 76 Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome: An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. Spastic paraplegia 1, X-linked: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

Wikipedia : 77 MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder... more...

GeneReviews: NBK1484

Related Diseases for Masa Syndrome

Diseases related to Masa Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 3, autosomal dominant 31.0 ATL1 REEP1 SPAST SPG11
2 spastic paraparesis 29.1 SPAST SPG11
3 paraplegia 28.7 AP5Z1 ATL1 L1CAM REEP1 SPART SPAST
4 spastic paraplegia 1 11.7
5 x-linked complicated spastic paraplegia type 1 11.6
6 sleep apnea 11.5
7 chronic fatigue syndrome 11.5
8 hydrocephalus with stenosis of the aqueduct of sylvius 11.3
9 carney complex, type 1 10.8
10 caronte 10.8
11 head injury 10.6
12 hydrocephalus 10.5
13 whiplash 10.4
14 brain injury 10.3
15 traumatic brain injury 10.3
16 eosinophilia-myalgia syndrome 10.3
17 spastic paraplegia 32, autosomal recessive 10.2 ATL1 SPG11
18 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.2
19 heparin-induced thrombocytopenia 10.2
20 esterase c 10.1
21 anxiety 10.1
22 spinal cord injury 10.1
23 spastic paraplegia 18, autosomal recessive 10.1 AP5Z1 REEP1
24 spastic paraplegia 47, autosomal recessive 10.1 AP5Z1 REEP1
25 spastic paraplegia 48, autosomal recessive 10.1 AP5Z1 SPG11
26 alcohol abuse 10.1
27 burns 10.1
28 post-traumatic stress disorder 10.1
29 spastic paraplegia 39, autosomal recessive 10.1 AP5Z1 REEP1
30 arts syndrome 10.0
31 neural tube defects, folate-sensitive 10.0
32 spastic paraplegia 30, autosomal recessive 10.0 AP5Z1 REEP1
33 attention deficit-hyperactivity disorder 10.0
34 laryngeal adductor paralysis 10.0
35 cataract 10.0
36 pol iii-related leukodystrophies 10.0
37 epilepsy 10.0
38 depression 10.0
39 amyotrophic lateral sclerosis type 5 10.0 C12orf65 SPG11
40 spastic paraplegia 42, autosomal dominant 10.0 AP5Z1 REEP1
41 spastic paraplegia 15, autosomal recessive 10.0 AP5Z1 SPG11
42 spastic paraplegia 2, x-linked 9.9 AP5Z1 ATL1 REEP1
43 alcohol dependence 9.9
44 hydrocephalus, normal-pressure 9.9
45 ocular motor apraxia 9.9
46 raine syndrome 9.9
47 aging 9.9
48 thrombosis 9.9
49 pulmonary edema 9.9
50 syncope 9.9

Graphical network of the top 20 diseases related to Masa Syndrome:



Diseases related to Masa Syndrome

Symptoms & Phenotypes for Masa Syndrome

Human phenotypes related to Masa Syndrome:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000238
2 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
4 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
5 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001288
6 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001347
7 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
8 aqueductal stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002410
9 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
10 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
11 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
12 hemiplegia/hemiparesis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004374
13 aphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002381
14 headache 60 33 hallmark (90%) Very frequent (99-80%) HP:0002315
15 spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001258
16 hand clenching 60 33 hallmark (90%) Very frequent (99-80%) HP:0001188
17 language impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002463
18 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
19 adducted thumb 60 33 frequent (33%) Frequent (79-30%) HP:0001181
20 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
21 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
22 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
23 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
24 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
25 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
26 macrocephaly 33 HP:0000256
27 kyphosis 33 HP:0002808
28 hyperlordosis 33 HP:0003307
29 microcephaly 33 HP:0000252
30 strabismus 33 HP:0000486
31 pes cavus 33 HP:0001761
32 talipes equinovarus 33 HP:0001762
33 shuffling gait 33 HP:0002362

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
microcephaly

Skeletal Spine:
kyphosis
lordosis

Skeletal Feet:
pes cavus
talipes equinovarus

Growth Height:
short stature (<5-15th percentile)

Neurologic Central Nervous System:
hydrocephalus
aphasia
lower limb spasticity
shuffling gait
agenesis of the corpus callosum
more
Head And Neck Eyes:
strabismus

Skeletal Hands:
adducted thumbs

Clinical features from OMIM:

303350

UMLS symptoms related to Masa Syndrome:


muscle spasticity

Drugs & Therapeutics for Masa Syndrome

Search Clinical Trials , NIH Clinical Center for Masa Syndrome

Cochrane evidence based reviews: masa syndrome

Genetic Tests for Masa Syndrome

Genetic tests related to Masa Syndrome:

# Genetic test Affiliating Genes
1 L1 Syndrome 30
2 X-Linked Hydrocephalus Syndrome 30 L1CAM

Anatomical Context for Masa Syndrome

MalaCards organs/tissues related to Masa Syndrome:

42
Testes, Brain, Skeletal Muscle, Heart, Spinal Cord

Publications for Masa Syndrome

Articles related to Masa Syndrome:

(show all 37)
# Title Authors Year
1
Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations. ( 29960101 )
2018
2
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. ( 26891472 )
2017
3
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report. ( 28781826 )
2017
4
Induced knockouts provide insights into human L1 syndrome. ( 27045055 )
2016
5
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. ( 25934484 )
2015
6
Three cases with L1 syndrome and two novel mutations in the L1CAM gene. ( 25948108 )
2015
7
L1CAM whole gene deletion in a child with L1 syndrome. ( 24668863 )
2014
8
Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus). ( 21961551 )
2011
9
Novel L1CAM splice site mutation in a young male with L1 syndrome. ( 21271669 )
2011
10
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. ( 19846429 )
2010
11
Novel mutations in the L1CAM gene support the complexity of L1 syndrome. ( 20447653 )
2010
12
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms. ( 20621658 )
2010
13
Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. ( 18553546 )
2008
14
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. ( 17328266 )
2006
15
First case of L1CAM gene mutation identified in MASA syndrome in Asia. ( 15904436 )
2005
16
MASA syndrome: ultrasonographic evidence in a male fetus. ( 11113917 )
2000
17
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1. ( 8636066 )
1996
18
X linked hydrocephalus and MASA syndrome. ( 8825051 )
1996
19
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. ( 7562969 )
1995
20
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. ( 7645588 )
1995
21
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. ( 7762552 )
1995
22
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. ( 7881431 )
1994
23
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. ( 7920659 )
1994
24
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. ( 7920660 )
1994
25
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families. ( 8031529 )
1994
26
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. ( 8062432 )
1994
27
Clinical aspects of the MASA syndrome in a large family, including expressing females. ( 8062435 )
1994
28
Agenesis of the corpus callosum associated with MASA syndrome. ( 8305964 )
1993
29
MASA syndrome. ( 1424231 )
1992
30
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families. ( 1552562 )
1992
31
MASA syndrome: delineation of the clinical spectrum at prepubertal age. ( 1605218 )
1992
32
Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. ( 1605219 )
1992
33
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. ( 1870106 )
1991
34
MASA syndrome: clinical variability and linkage analysis. ( 1951449 )
1991
35
MASA syndrome: new clinical features and linkage analysis using DNA probes. ( 2277384 )
1990
36
MASA syndrome: further clinical delineation and chromosomal localisation. ( 2737668 )
1989
37
The MASA syndrome: a new heritable mental retardation syndrome. ( 4855169 )
1974

Variations for Masa Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Masa Syndrome:

76 (show all 19)
# Symbol AA change Variation ID SNP ID
1 L1CAM p.Ile179Ser VAR_003923 rs137852523
2 L1CAM p.His210Gln VAR_003926 rs28933683
3 L1CAM p.Glu309Lys VAR_003930 rs367665974
4 L1CAM p.Trp335Arg VAR_003931
5 L1CAM p.Gly370Arg VAR_003932 rs137852524
6 L1CAM p.Arg473Cys VAR_003936 rs886039408
7 L1CAM p.Asp598Asn VAR_003937 rs137852519
8 L1CAM p.Arg632Pro VAR_003938
9 L1CAM p.Ala691Asp VAR_003939
10 L1CAM p.Gly698Arg VAR_003940 rs886039409
11 L1CAM p.Pro941Leu VAR_003945
12 L1CAM p.Ser1194Leu VAR_003947 rs137852522
13 L1CAM p.Val752Met VAR_014421 rs137852525
14 L1CAM p.Ser674Cys VAR_027513
15 L1CAM p.Asp770Asn VAR_027514 rs148516831
16 L1CAM p.Asp202Tyr VAR_030405
17 L1CAM p.Gly268Asp VAR_030406
18 L1CAM p.Ala426Asp VAR_030410
19 L1CAM p.Leu482Pro VAR_030411 rs106479424

ClinVar genetic disease variations for Masa Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 L1CAM NM_000425.4(L1CAM): c.630C> A (p.His210Gln) single nucleotide variant Pathogenic rs28933683 GRCh37 Chromosome X, 153136309: 153136309
2 L1CAM NM_000425.4(L1CAM): c.630C> A (p.His210Gln) single nucleotide variant Pathogenic rs28933683 GRCh38 Chromosome X, 153870854: 153870854
3 L1CAM NM_000425.4(L1CAM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic rs137852519 GRCh37 Chromosome X, 153133489: 153133489
4 L1CAM NM_000425.4(L1CAM): c.1792G> A (p.Asp598Asn) single nucleotide variant Pathogenic rs137852519 GRCh38 Chromosome X, 153868034: 153868034
5 L1CAM NM_000425.4(L1CAM): c.3489_3490delTG (p.Glu1164Glyfs) deletion Pathogenic rs879253714 GRCh37 Chromosome X, 153128972: 153128973
6 L1CAM NM_000425.4(L1CAM): c.3489_3490delTG (p.Glu1164Glyfs) deletion Pathogenic rs879253714 GRCh38 Chromosome X, 153863517: 153863518
7 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh37 Chromosome X, 153128311: 153128311
8 L1CAM NM_000425.4(L1CAM): c.3581C> T (p.Ser1194Leu) single nucleotide variant Pathogenic rs137852522 GRCh38 Chromosome X, 153862856: 153862856
9 L1CAM NM_000425.4(L1CAM): c.536T> G (p.Ile179Ser) single nucleotide variant Pathogenic rs137852523 GRCh37 Chromosome X, 153136403: 153136403
10 L1CAM NM_000425.4(L1CAM): c.536T> G (p.Ile179Ser) single nucleotide variant Pathogenic rs137852523 GRCh38 Chromosome X, 153870948: 153870948
11 L1CAM NM_000425.4(L1CAM): c.1108G> A (p.Gly370Arg) single nucleotide variant Pathogenic rs137852524 GRCh37 Chromosome X, 153135273: 153135273
12 L1CAM NM_000425.4(L1CAM): c.1108G> A (p.Gly370Arg) single nucleotide variant Pathogenic rs137852524 GRCh38 Chromosome X, 153869818: 153869818
13 L1CAM NM_000425.4(L1CAM): c.3654G> C (p.Gln1218His) single nucleotide variant Uncertain significance rs1369743518 GRCh37 Chromosome X, 153128238: 153128238
14 L1CAM NM_000425.4(L1CAM): c.3654G> C (p.Gln1218His) single nucleotide variant Uncertain significance rs1369743518 GRCh38 Chromosome X, 153862783: 153862783

Expression for Masa Syndrome

Search GEO for disease gene expression data for Masa Syndrome.

Pathways for Masa Syndrome

Pathways related to Masa Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Axon guidance hsa04360
2 Cell adhesion molecules (CAMs) hsa04514

GO Terms for Masa Syndrome

Cellular components related to Masa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid droplet GO:0005811 9.16 SPART SPAST
2 axon GO:0030424 9.13 ATL1 L1CAM SPG11
3 endoplasmic reticulum tubular network GO:0071782 8.62 ATL1 REEP1

Biological processes related to Masa Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 8.62 ATL1 SPAST

Sources for Masa Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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