MDDGC5
MCID: MSC036
MIFTS: 55

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (MDDGC5) malady

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 54 50 13
Lgmd2i 12 50 24 56 66 52
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 12 50 56 14
Limb-Girdle Muscular Dystrophy Type 2i 38 50 24 66
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 12 50 56
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 12 66
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 66 29
Mddgc5 12 66
Muscular Dystrophy-Dystroglycanopathy Type C 5 12
Muscular Dystrophy, Limb-Girdle, Type 2i 69
Muscular Dystrophy Limb-Girdle Type 2i 12
Lgmd 2i 24

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2i
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 607155
Disease Ontology 12 DOID:0110299
ICD10 33 G71.0
Orphanet 56 ORPHA34515
ICD10 via Orphanet 34 G71.0
MedGen 40 C1846672
MeSH 42 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

NIH Rare Diseases : 50 limb-girdle muscular dystrophy type 2i (lgmd2i) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. the proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. in lgmd2i, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. the symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. lgmd2i is caused by changes (mutations) in the fkrp gene and is inherited in an autosomal recessive manner. there is, unfortunately, no cure for lgmd2i and treatment is based on the signs and symptoms present in each person. last updated: 12/21/2015

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as lgmd2i, is related to muscular dystrophy, limb-girdle, type 2a and muscular dystrophy-dystroglycanopathy , type c, 1, and has symptoms including myalgia, waddling gait and scoliosis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Striated Muscle Contraction and Mannose type O-glycan biosynthesis. The drugs Lisinopril and Angiotensin-Converting Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and testes, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

OMIM : 54 MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no... (607155) more...

UniProtKB/Swiss-Prot : 66 Muscular dystrophy-dystroglycanopathy limb-girdle C5: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2a 10.8
2 muscular dystrophy-dystroglycanopathy , type c, 1 10.8
3 muscular dystrophy 10.7
4 limb-girdle muscular dystrophy 10.7
5 sporadic hemiplegic migraine 10.2 CAPN3 FKRP
6 myositis 10.2
7 rippling muscle disease 10.2 DYSF FKRP
8 cerebral hemorrhage 10.1 CAPN3 DYSF
9 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.1 DYSF FKRP
10 deafness, autosomal recessive 18b 10.1 DYSF FKRP
11 pancreatic agenesis 1 10.1 CAPN3 DYSF
12 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.1 CAPN3 DYSF
13 ehlers-danlos syndrome, kyphoscoliotic form 10.1 CAPN3 DYSF
14 myopathy, spheroid body 10.1 CAPN3 FKRP TRIM32
15 asthma-related traits 6 10.1 CAPN3 DYSF FKRP
16 autosomal recessive limb-girdle muscular dystrophy type 2x 10.1 CAPN3 DYSF FKRP
17 cone-rod dystrophy, prph2-related 10.0 FKRP POMGNT2
18 cardiomyopathy, dilated, 1aa, with or without lvnc 10.0 FKRP LAMA2
19 creatine phosphokinase, elevated serum 10.0 DYSF TTN
20 myopathy, early-onset, with fatal cardiomyopathy 10.0 CAPN3 FKRP TTN
21 myopathy 9.9
22 lyme disease 9.9 CAPN3 DYSF TTN
23 dermatofibrosarcoma protuberans 9.9 FKRP LAMA2
24 vulvar eccrine adenocarcinoma 9.9 CAPN3 DYSF TTN
25 thrombocytopenia, x-linked 9.9 DYSF FKRP LAMA2
26 gabrg2-related generalized epilepsy with febrile seizures plus 9.9 FKRP LAMA2 POMGNT2
27 ullrich congenital muscular dystrophy 1 9.9 CAPN3 DYSF LAMA2
28 glycogen storage disease 0, muscle 9.8 FKRP LAMA2 POMGNT2
29 myasthenia gravis, limb-girdle 9.8 FKRP LAMA2 POMGNT2
30 muscular dystrophy, limb-girdle, type 1b 9.8 FKRP LAMA2 POMGNT2
31 malignant hyperthermia susceptibility 9.8 CAPN3 DYSF TCAP TRIM32
32 autosomal dominant nonsyndromic deafness 9.8 FKRP LAMA2 POMGNT2
33 cardiomyopathy, dilated, 1x 9.8 LAMA2 POMGNT2
34 dystonia 27 9.8 CAPN3 LAMA2
35 muscular dystrophy, rigid spine, 1 9.8 DYSF LAMA2 TTN
36 cerebral angioma 9.7 CAPN3 DYSF FKRP LAMA2
37 neurodegeneration with brain iron accumulation 6 9.7 CAPN3 DYSF FKRP TCAP TRIM32
38 autosomal recessive limb-girdle muscular dystrophy type 2w 9.7 CAPN3 DYSF FKRP TCAP TRIM32
39 cdkl5-related angelman-like syndrome 9.6 LAMA2 TCAP TTN
40 emery-dreifuss muscular dystrophy, dominant type 9.6 FKRP LAMA2 TCAP TTN
41 congenital heart defects, multiple types, 3 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
42 autosomal dominant limb-girdle muscular dystrophy type 1c 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
43 myopathy, distal, with anterior tibial onset 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
44 spinocerebellar ataxia 11 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
45 hypereosinophilic syndrome, idiopathic, resistant to imatinib 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
46 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
47 central corneal ulcer 9.4 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32
48 charcot-marie-tooth disease, type 2b2 8.9 CAPN3 DYSF FKRP LAMA2 POMGNT2 TCAP

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 5

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Symptoms by clinical synopsis from OMIM:

607155

Clinical features from OMIM:

607155

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 myalgia 32 HP:0003326
2 waddling gait 32 HP:0002515
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 hyperlordosis 32 HP:0003307
6 macroglossia 32 HP:0000158
7 elevated serum creatine phosphokinase 32 HP:0003236
8 muscle cramps 32 HP:0003394
9 difficulty walking 32 HP:0002355
10 vertebral fusion 32 HP:0002948
11 congenital muscular dystrophy 32 HP:0003741
12 dilated cardiomyopathy 32 HP:0001644
13 proximal muscle weakness 32 HP:0003701
14 calf muscle hypertrophy 32 HP:0008981
15 left ventricular failure 32 HP:0005162
16 difficulty climbing stairs 32 HP:0003551
17 shoulder girdle muscle weakness 32 HP:0003547
18 toe walking 32 HP:0040083
19 frequent falls 32 HP:0002359
20 restrictive deficit on pulmonary function testing 32 HP:0002111
21 pelvic girdle muscle weakness 32 HP:0003749
22 achilles tendon contracture 32 HP:0001771
23 exercise-induced myoglobinuria 32 HP:0008305
24 nocturnal hypoventilation 32 HP:0002877
25 thigh hypertrophy 32 HP:0003733

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:


muscle cramp, myalgia, waddling gait

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 DYSF FKRP LAMA2 TCAP TRIM32 TTN
2 homeostasis/metabolism MP:0005376 9.56 TCAP TRIM32 TTN CAPN3 DYSF FKRP
3 muscle MP:0005369 9.17 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Drugs for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7 5362119
2 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
3 Antihypertensive Agents Phase 2, Phase 3
4 HIV Protease Inhibitors Phase 2, Phase 3
5 Micronutrients Phase 2, Phase 3
6
protease inhibitors Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3
8 Trace Elements Phase 2, Phase 3
9 Ubiquinone Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11
Coenzyme Q10 Experimental, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
12 Tin Fluorides Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3
2 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Recruiting NCT02841267 Phase 1, Phase 2
3 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
4 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
5 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C5 29
2 Limb-Girdle Muscular Dystrophy Type 2i 24 FKRP

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

39
Brain, Skeletal Muscle, Testes

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 FKRP p.Arg143Ser VAR_018282 rs148206382
2 FKRP p.Leu276Ile VAR_018285 rs28937900
3 FKRP p.Arg312Cys VAR_018287
4 FKRP p.Pro316Arg VAR_018289 rs752582904
5 FKRP p.Arg339Leu VAR_018291
6 FKRP p.Arg54Trp VAR_019272 rs28937905
7 FKRP p.Tyr307Asn VAR_022850 rs104894692
8 FKRP p.Pro316Ser VAR_022851
9 FKRP p.Asp360Asn VAR_022853
10 FKRP p.Pro462Ser VAR_022856 rs768606230
11 FKRP p.Val79Met VAR_065055 rs104894683
12 FKRP p.Arg134Trp VAR_065056 rs104894690
13 FKRP p.Val160Phe VAR_065057
14 FKRP p.Tyr182Cys VAR_065058 rs543163491
15 FKRP p.Thr293Ile VAR_065059
16 FKRP p.Val300Ala VAR_065060 rs104894691
17 FKRP p.Val300Met VAR_065061 rs563033008
18 FKRP p.Pro358Leu VAR_065062 rs143031195

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
2 FKRP NM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs) duplication Pathogenic rs587777823 GRCh38 Chromosome 19, 46755837: 46755840
3 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
4 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
5 FKRP NM_024301.4(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Pathogenic rs28937905 GRCh37 Chromosome 19, 47258867: 47258867
6 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh37 Chromosome 19, 47259471: 47259471
7 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Pathogenic rs104894690 GRCh37 Chromosome 19, 47259107: 47259107
8 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Pathogenic rs104894691 GRCh37 Chromosome 19, 47259606: 47259606
9 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
10 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
11 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh38 Chromosome 19, 46755451: 46755451
12 FKRP NM_024301.4(FKRP): c.545A> G (p.Tyr182Cys) single nucleotide variant Pathogenic rs543163491 GRCh37 Chromosome 19, 47259252: 47259252
13 FKRP NM_024301.4(FKRP): c.313C> T (p.Gln105Ter) single nucleotide variant Pathogenic rs761821795 GRCh37 Chromosome 19, 47259020: 47259020
14 FKRP NM_024301.4(FKRP): c.1269_1270insT (p.Asn424Terfs) insertion Pathogenic rs772950604 GRCh37 Chromosome 19, 47259976: 47259977
15 FKRP NM_024301.4(FKRP): c.1267delC (p.Arg423Alafs) deletion Pathogenic rs886044083 GRCh37 Chromosome 19, 47259974: 47259974
16 FKRP NM_024301.4(FKRP): c.1141delG (p.Ala381Glnfs) deletion Pathogenic rs886044134 GRCh37 Chromosome 19, 47259848: 47259848
17 FKRP NM_024301.4(FKRP): c.970G> T (p.Glu324Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044183 GRCh37 Chromosome 19, 47259677: 47259677
18 FKRP NM_024301.4(FKRP): c.738_749delCCCGCTGGCCAC (p.Pro247_Thr250del) deletion Likely pathogenic rs886044496 GRCh37 Chromosome 19, 47259445: 47259456

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 5.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.81 TCAP TTN
2 9.98 FKRP POMGNT2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.26 CAPN3 DYSF
2 I band GO:0031674 9.16 TCAP TTN
3 Z disc GO:0030018 9.13 CAPN3 TCAP TTN
4 sarcolemma GO:0042383 8.8 DYSF FKRP LAMA2

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.55 CAPN3 TTN
2 cardiac muscle contraction GO:0060048 9.54 TCAP TTN
3 muscle filament sliding GO:0030049 9.52 TCAP TTN
4 positive regulation of proteolysis GO:0045862 9.51 CAPN3 TRIM32
5 muscle cell cellular homeostasis GO:0046716 9.49 CAPN3 TRIM32
6 protein O-linked mannosylation GO:0035269 9.48 FKRP POMGNT2
7 cardiac muscle tissue morphogenesis GO:0055008 9.46 TCAP TTN
8 cardiac myofibril assembly GO:0055003 9.43 TCAP TTN
9 cardiac muscle fiber development GO:0048739 9.4 TCAP TTN
10 cardiac muscle hypertrophy GO:0003300 9.37 TCAP TTN
11 skeletal muscle thin filament assembly GO:0030240 9.32 TCAP TTN
12 detection of muscle stretch GO:0035995 9.26 TCAP TTN
13 skeletal muscle myosin thick filament assembly GO:0030241 9.16 TCAP TTN
14 sarcomerogenesis GO:0048769 8.96 TCAP TTN
15 sarcomere organization GO:0045214 8.8 CAPN3 TCAP TTN

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.16 TRIM32 TTN
2 titin binding GO:0031432 8.96 CAPN3 TCAP
3 structural constituent of muscle GO:0008307 8.8 CAPN3 TCAP TTN

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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