VWD3
MCID: VNW008
MIFTS: 46

Von Willebrand Disease, Type 3 (VWD3)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Von Willebrand Disease, Type 3

MalaCards integrated aliases for Von Willebrand Disease, Type 3:

Name: Von Willebrand Disease, Type 3 57 44 39 71
Von Willebrand Disease Type 3 12 58 29 6
Vwd3 57 12 73
Von Willebrand Disease, Recessive Form 29 6
Von Willebrand Disease Type Iii 12 73
Von Willebrand's Disease 3 12 15
Von Willebrand Factor Deficiency Type 3 73
Von Willebrand Disease Recessive Form 73
Von Willebrand Disease, Type Iii 57
Von Willebrand Disease 3 73
Vwd, Type 3 57
Vwd Type 3 12

Characteristics:

Orphanet epidemiological data:

58
von willebrand disease type 3
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
most severe type of von willebrand disease


HPO:

31
von willebrand disease, type 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111054
OMIM® 57 277480
MeSH 44 D056729
NCIt 50 C85213
SNOMED-CT 67 128108002
MESH via Orphanet 45 D056729
ICD10 via Orphanet 33 D68.0
UMLS via Orphanet 72 C1264041
Orphanet 58 ORPHA166096
UMLS 71 C1264041

Summaries for Von Willebrand Disease, Type 3

OMIM® : 57 Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Type 3 von Willebrand disease, which is inherited as an autosomal recessive disorder, is associated with a severe quantitative defect or virtual absence of VWF in plasma, a prolonged bleeding time, and more severe bleeding tendencies compared to the other types of VWD. Type 3 accounts for about 1% of patients with VWD. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, bleeding after surgery, and hemarthroses. Since VWF also serves as a carrier protein for coagulation factor VIII (F8; 300841), affected individuals also have very low levels of plasma F8, resembling hemophilia A (306700) (summary by 24,21:Zhang et al., 1992, 1993; reviews by Sadler et al., 2006 and Lillicrap, 2009). For a general description and a classification of the types of von Willebrand disease, see VWD type 1 (193400). (277480) (Updated 05-Mar-2021)

MalaCards based summary : Von Willebrand Disease, Type 3, also known as von willebrand disease type 3, is related to hemophilia a and factor viii deficiency. An important gene associated with Von Willebrand Disease, Type 3 is VWF (Von Willebrand Factor), and among its related pathways/superpathways are O-linked glycosylation and Formation of Fibrin Clot (Clotting Cascade). The drugs Coagulants and Factor VIII have been mentioned in the context of this disorder. Affiliated tissues include endothelial, heart and liver, and related phenotypes are joint hemorrhage and thrombocytopenia

Disease Ontology : 12 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material basis in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.

UniProtKB/Swiss-Prot : 73 von Willebrand disease 3: A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses.

Related Diseases for Von Willebrand Disease, Type 3

Diseases in the Von Willebrand's Disease family:

Pseudo-Von Willebrand Disease Von Willebrand Disease, Type 1
Von Willebrand Disease, Type 3 Von Willebrand Disease, Type 2
Acquired Von Willebrand Syndrome

Diseases related to Von Willebrand Disease, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 hemophilia a 30.8 VWF F8
2 factor viii deficiency 30.6 VWF SIGLEC5 F8
3 von willebrand's disease 30.5 VWF SIGLEC5 GP1BA F8 ADAMTS13
4 thrombosis 29.8 VWF GP1BA F8 ADAMTS13
5 von willebrand disease, type 1 29.2 ZAN VWF SIGLEC5 MUC5B GP1BA F8
6 von willebrand disease, type 2 28.3 ZAN VWF SIGLEC5 GP1BA FCGBP F8
7 hemophilia 10.4
8 fainting 10.3 VWF F8
9 pediatric angiosarcoma 10.3 VWF F8
10 breast hemangioma 10.2 VWF F8
11 thyroid angiosarcoma 10.2 VWF F8
12 lymphangiosarcoma 10.2 VWF F8
13 hemarthrosis 10.2 VWF F8
14 brachydactyly, type d 10.2 VWF F8
15 thrombophlebitis 10.2 VWF F8
16 carotid artery thrombosis 10.2 VWF GP1BA
17 factor v deficiency 10.2 VWF F8
18 central retinal vein occlusion 10.2 VWF F8
19 factor xiii deficiency 10.2 VWF F8
20 thrombophilia due to activated protein c resistance 10.2 VWF F8
21 coronary thrombosis 10.2 VWF GP1BA
22 pulmonary artery disease 10.2 VWF F8
23 factor xi deficiency 10.2 VWF F8
24 thrombotic microangiopathy 10.2 VWF ADAMTS13
25 colorectal cancer 5 10.2 VWF ADAMTS13
26 vein disease 10.1 VWF F8
27 endocardium disease 10.1 VWF SIGLEC5
28 bombay phenotype 10.1 VWF ADAMTS13
29 splenic sequestration 10.1 VWF ADAMTS13
30 hypertensive retinopathy 10.1 VWF ADAMTS13
31 arthropathy 10.1
32 hemophilic arthropathy 10.1
33 maternal uniparental disomy 10.1
34 intracranial thrombosis 10.1 VWF GP1BA F8
35 malignant hypertension 10.1 VWF ADAMTS13
36 glanzmann thrombasthenia 10.1 VWF GP1BA F8
37 pulmonary embolism 10.1 VWF GP1BA F8
38 bernard-soulier syndrome 10.1 VWF GP1BA F8
39 chronic ethmoiditis 10.1 MUC6 MUC5B
40 autoimmune disease of cardiovascular system 10.1 VWF ADAMTS13
41 bile duct cystadenocarcinoma 10.1 MUC6 MUC5B
42 biliary papillomatosis 10.1 MUC6 MUC5B
43 appendix disease 10.0 MUC6 MUC5B
44 pseudo-von willebrand disease 10.0 VWF SIGLEC5 GP1BA
45 limb ischemia 10.0 VWF SIGLEC5
46 appendix cancer 10.0 MUC6 MUC5B
47 thrombophilia due to thrombin defect 10.0 VWF F8
48 colorectal cancer 1 10.0 MUC6 MUC5B
49 thrombotic thrombocytopenic purpura 10.0 VWF ADAMTS13
50 coronary stenosis 10.0 VWF ADAMTS13

Graphical network of the top 20 diseases related to Von Willebrand Disease, Type 3:



Diseases related to Von Willebrand Disease, Type 3

Symptoms & Phenotypes for Von Willebrand Disease, Type 3

Human phenotypes related to Von Willebrand Disease, Type 3:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 joint hemorrhage 31 occasional (7.5%) HP:0005261
2 thrombocytopenia 31 HP:0001873
3 epistaxis 31 HP:0000421
4 bruising susceptibility 31 HP:0000978
5 prolonged bleeding time 31 HP:0003010
6 menorrhagia 31 HP:0000132
7 reduced factor viii activity 31 HP:0003125
8 persistent bleeding after trauma 31 HP:0001934
9 prolonged bleeding after surgery 31 HP:0004846
10 reduced von willebrand factor activity 31 HP:0008330
11 impaired platelet aggregation 31 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising

Laboratory Abnormalities:
severely decreased antigen levels of vwf and factor viii

Hematology:
prolonged bleeding time
menorrhagia
mucocutaneous bleeding
prolonged bleeding after surgery or trauma

Skeletal:
hemarthrosis may occur

Clinical features from OMIM®:

277480 (Updated 05-Mar-2021)

Drugs & Therapeutics for Von Willebrand Disease, Type 3

Drugs for Von Willebrand Disease, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Coagulants Phase 1
2 Factor VIII
3 Hemostatics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex (rVWF:rFVIII): A Phase 1 Study Evaluating the Pharmacokinetics (PK), Safety, and Tolerability in Type 3 Von Willebrand Disease (VWD) Completed NCT00816660 Phase 1
2 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Active, not recruiting NCT02460458 Von Willebrand Factor

Search NIH Clinical Center for Von Willebrand Disease, Type 3

Cochrane evidence based reviews: von willebrand disease, type 3

Genetic Tests for Von Willebrand Disease, Type 3

Genetic tests related to Von Willebrand Disease, Type 3:

# Genetic test Affiliating Genes
1 Von Willebrand Disease, Recessive Form 29 VWF
2 Von Willebrand Disease Type 3 29

Anatomical Context for Von Willebrand Disease, Type 3

MalaCards organs/tissues related to Von Willebrand Disease, Type 3:

40
Endothelial, Heart, Liver

Publications for Von Willebrand Disease, Type 3

Articles related to Von Willebrand Disease, Type 3:

(show top 50) (show all 65)
# Title Authors PMID Year
1
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. 57 6
19372260 2009
2
Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. 6 57
9569178 1998
3
Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands. 57 6
8367445 1993
4
A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients. 6 57
1302613 1992
5
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. 57 6
1415226 1992
6
Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III. 6 57
1301136 1992
7
Genotype/phenotype association in von Willebrand disease: is the glass half full or empty? 57
19630771 2009
8
The role of molecular genetics in diagnosing von Willebrand disease. 57
19085649 2008
9
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. 57
16889557 2006
10
Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. 6
16643449 2006
11
Patients with type 3 severe von Willebrand disease are not protected against atherosclerosis: results from a multicenter study in 47 patients. 57
14970109 2004
12
Delta C in exon 18 of the von Willebrand gene is uncommon in German vWD type III patients. 6
8165603 1993
13
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation. 57
8500791 1993
14
Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual. 57
2297569 1990
15
Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. 57
3258663 1988
16
Gene deletions correlate with the development of alloantibodies in von Willebrand disease. 57
3033024 1987
17
A relatively high frequency of severe (type III) von Willebrand's disease in Israel. 57
3082350 1986
18
Recent investigations of the first bleeder family in Aland (Finland) described by von Willebrand. 57
6972630 1981
19
The factor VIII abnormality in severe von Willebrand's disease. 57
315519 1979
20
Classification of von Willebrand's disease. 57
82857 1978
21
Immunoradiometric assay of factor VIII related antigen, with observations in 32 patients with von Willebrand's disease. 57
1083743 1976
22
Detection of heterozygotes in both parents of homozygous patients with Von Willebrand's disease. 57
805164 1975
23
'Autosomal haemophilia': a variant of von Willebrand's disease. 57
4546581 1974
24
Von Wollebrand's disease with normal Factor VIII activity in a homozygote. 57
4549210 1974
25
Detection of heterozygotes for recessive von Willebrand's disease by the assay of antihemophilic-factor-like antigen. 57
4542316 1973
26
A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient. 61
33134807 2020
27
Two cases of von Willebrand disease type 3 in consanguineous Chinese families. 61
31793247 2020
28
Platelets compensate for poor thrombin generation in type 3 von Willebrand disease. 61
30836803 2020
29
The D' domain of von Willebrand factor requires the presence of the D3 domain for optimal factor VIII binding. 61
30111575 2018
30
Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome. 61
29931985 2018
31
A 12.3-kb Duplication Within the VWF Gene in Pigs Affected by Von Willebrand Disease Type 3. 61
29208651 2018
32
Monitoring of coagulation factor therapy in patients with von Willebrand disease type 3 using a microchip flow chamber system. 61
27761577 2017
33
[Von Willebrand disease type 3 falsely diagnosed as hemophilia A: a case report]. 61
28525200 2017
34
Baseline factor VIII plasma levels and age at first bleeding in patients with severe forms of von Willebrand disease. 61
26843468 2016
35
Successful aortic aneurysm repair in a woman with severe von Willebrand (type 3) disease. 61
25960895 2015
36
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease. 61
24712919 2014
37
Management of von Willebrand disease type 3 during pregnancy - 2 cases reports. 61
24254552 2013
38
Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations. 61
23834637 2013
39
Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients. 61
23407766 2013
40
Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients. 61
22674667 2012
41
Pathologic shear triggers shedding of vascular receptors: a novel mechanism for down-regulation of platelet glycoprotein VI in stenosed coronary vessels. 61
22431567 2012
42
Current management of patients with severe von Willebrand disease type 3: a 2012 update. 61
22722677 2012
43
An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12. 61
21750090 2011
44
Circulating and progenitor endothelial cells are abnormal in patients with different types of von Willebrand disease and correlate with markers of angiogenesis. 61
21630316 2011
45
Management of inherited von Willebrand disease in Italy: results from the retrospective study on 1234 patients. 61
22102194 2011
46
Spontaneous iliopsoas muscle hematoma in a patient with von Willebrand disease: a case report. 61
21722393 2011
47
A review of long-term prophylaxis in the rare inherited coagulation factor deficiencies. 61
19906159 2010
48
Efficacy and safety of highly purified, doubly virus-inactivated VWF/FVIII concentrates in inherited von Willebrand's disease: results of an Italian cohort study on 120 patients characterized by bleeding severity score. 61
19811543 2010
49
Platelet morphological changes in 2 patients with von Willebrand disease type 3 caused by large homozygous deletions of the von Willebrand factor gene. 61
19608674 2009
50
Clinical and molecular markers of inherited von Willebrand disease type 3: are deletions of the VWF gene associated with alloantibodies to VWF? 61
18853484 2008

Variations for Von Willebrand Disease, Type 3

ClinVar genetic disease variations for Von Willebrand Disease, Type 3:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VWF VWF, 8.6-KB DEL, EX4-5 Deletion Pathogenic 31008
2 VWF NM_000552.4(VWF):c.7085G>T (p.Cys2362Phe) SNV Pathogenic 315 rs61750630 12:6091154-6091154 12:5981988-5981988
3 VWF NM_000552.4(VWF):c.7603C>T (p.Arg2535Ter) SNV Pathogenic 299 rs61751296 12:6078503-6078503 12:5969337-5969337
4 VWF NM_000552.4(VWF):c.7252_7253TG[1] (p.Cys2418fs) Microsatellite Pathogenic 627367 rs1591841452 12:6090984-6090985 12:5981818-5981819
5 VWF NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) SNV Pathogenic 298 rs61750612 12:6122710-6122710 12:6013544-6013544
6 VWF NM_000552.4(VWF):c.2435del (p.Pro812fs) Deletion Pathogenic 303 rs62643632 12:6153464-6153464 12:6044298-6044298
7 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 12:6143978-6143978 12:6034812-6034812
8 VWF NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter) SNV Pathogenic 297 rs61750595 12:6127609-6127609 12:6018443-6018443
9 VWF NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) SNV Likely pathogenic 976752 12:6128892-6128892 12:6019726-6019726
10 VWF NM_000552.4(VWF):c.2516del (p.Gly839fs) Deletion Likely pathogenic 100225 rs61748481 12:6145584-6145584 12:6036418-6036418
11 VWF NM_000552.4(VWF):c.7664_7665insAG (p.Cys2557fs) Insertion Likely pathogenic 100481 rs267607364 12:6078441-6078442 12:5969275-5969276
12 VWF NM_000552.4(VWF):c.2443-1G>C SNV Likely pathogenic 100222 rs61748480 12:6145658-6145658 12:6036492-6036492
13 VWF NM_000552.4(VWF):c.3675-1G>A SNV Likely pathogenic 627203 rs746457842 12:6128910-6128910 12:6019744-6019744
14 VWF NM_000552.4(VWF):c.7399C>T (p.Gln2467Ter) SNV Likely pathogenic 627373 rs1591838792 12:6085315-6085315 12:5976149-5976149
15 VWF NM_000552.4(VWF):c.7730-1G>T SNV Likely pathogenic 627375 rs267607366 12:6077334-6077334 12:5968168-5968168
16 VWF NM_000552.4(VWF):c.7863del (p.Thr2622fs) Deletion Likely pathogenic 627386 rs1591834850 12:6076676-6076676 12:5967510-5967510
17 VWF NM_000552.4(VWF):c.533-48_657+52del Deletion Likely pathogenic 627513 rs1591914708 12:6204574-6204798 12:6095408-6095632
18 VWF NM_000552.4(VWF):c.5851A>G (p.Thr1951Ala) SNV Uncertain significance 619971 rs144072210 12:6105380-6105380 12:5996214-5996214
19 VWF NM_000552.4(VWF):c.6798+5G>A SNV Uncertain significance 627117 rs1591847103 12:6100980-6100980 12:5991814-5991814
20 VWF NM_000552.4(VWF):c.6798+6A>G SNV Uncertain significance 627118 rs1591847100 12:6100979-6100979 12:5991813-5991813
21 VWF NM_000552.4(VWF):c.7429T>C (p.Cys2477Arg) SNV Uncertain significance 627125 rs1591838774 12:6085285-6085285 12:5976119-5976119
22 VWF NM_000552.4(VWF):c.1922C>T (p.Ala641Val) SNV Uncertain significance 100196 rs61754019 12:6166046-6166046 12:6056880-6056880
23 VWF NM_000552.4(VWF):c.2570A>G (p.Asn857Ser) SNV Uncertain significance 417966 rs765163545 12:6143969-6143969 12:6034803-6034803
24 VWF NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) SNV Uncertain significance 381621 rs141649383 12:6167119-6167119 12:6057953-6057953
25 VWF NM_000552.5(VWF):c.6025C>T (p.His2009Tyr) SNV Uncertain significance 988654 12:6105206-6105206 12:5996040-5996040
26 VWF NM_000552.4(VWF):c.3101_3103del (p.Thr1034del) Deletion Uncertain significance 802812 rs368366214 12:6135077-6135079 12:6025911-6025913
27 VWF NM_000552.4(VWF):c.7940C>T (p.Thr2647Met) SNV Uncertain significance 100487 rs61751302 12:6062708-6062708 12:5953542-5953542
28 VWF NM_000552.4(VWF):c.6859C>T (p.Arg2287Trp) SNV Uncertain significance 100450 rs61750625 12:6094771-6094771 12:5985605-5985605

UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Type 3:

73
# Symbol AA change Variation ID SNP ID
1 VWF p.Trp377Cys VAR_005782 rs62643626
2 VWF p.Cys2739Tyr VAR_005821 rs61751305
3 VWF p.Cys2362Phe VAR_009143 rs61750630
4 VWF p.Asn2546Tyr VAR_009144 rs61751298
5 VWF p.Arg273Trp VAR_010242 rs61753997

Expression for Von Willebrand Disease, Type 3

Search GEO for disease gene expression data for Von Willebrand Disease, Type 3.

Pathways for Von Willebrand Disease, Type 3

Pathways related to Von Willebrand Disease, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 MUC6 MUC5B ADAMTS13
2
Show member pathways
11.63 VWF GP1BA F8
3
Show member pathways
11.5 MUC6 MUC5B ADAMTS13
4 10.07 VWF GP1BA
5 9.62 VWF GP1BA

GO Terms for Von Willebrand Disease, Type 3

Cellular components related to Von Willebrand Disease, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 ZAN VWF MUC6 MUC5B GP1BA FCGBP
2 extracellular matrix GO:0031012 9.17 ZAN VWF MUC6 MUC5B GP1BA FCGBP
3 platelet alpha granule lumen GO:0031093 9.16 VWF F8

Biological processes related to Von Willebrand Disease, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.62 ZAN VWF SIGLEC5 GP1BA
2 blood coagulation GO:0007596 9.56 VWF GP1BA F8 ADAMTS13
3 platelet activation GO:0030168 9.46 VWF GP1BA F8 ADAMTS13
4 O-glycan processing GO:0016266 9.37 MUC6 MUC5B
5 blood coagulation, intrinsic pathway GO:0007597 9.13 VWF GP1BA F8
6 hemostasis GO:0007599 8.92 VWF GP1BA F8 ADAMTS13

Sources for Von Willebrand Disease, Type 3

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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