MCID: FCT007
MIFTS: 78

Factor Vii Deficiency malady

Blood diseases category

Summaries for Factor Vii Deficiency

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 Factor VII (EC 3.4.21.21, blood-coagulation factor VIIa, activated blood coagulation factor VII,... more...

MalaCards: Factor Vii Deficiency, also known as factor 7 deficiency, is related to dubin-johnson syndrome and hemophilia b. An important gene associated with Factor Vii Deficiency is F7 (coagulation factor VII (serum prothrombin conversion accelerator)), and among its related pathways are Selenium Pathway and Platelet degranulation . The drugs factor viii and recombinant fviia and the compounds warfarin and cardiolipin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Description from OMIM:46 227500

Aliases & Classifications for Factor Vii Deficiency

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
hypoproconvertinemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable


Aliases & Descriptions:

factor vii deficiency 8 9 42 46 10 44 60
factor 7 deficiency 42 20 22
hypoproconvertinemia 42 48
congenital proconvertin deficiency 48
congenital factor vii deficiency 48
deficiency, stable 8
stable disease 44
f7 deficiency 42


External Ids:

Disease Ontology8 DOID:2215
MeSH34 D005168
SNOMED-CT via Orphanet57 37193007
SNOMED-CT56 37193007, 154820003
ICD10 via Orphanet26 D68.2
OMIM46 227500

Related Diseases for Factor Vii Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Factor Vii Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1dubin-johnson syndrome30.5ABCC2
2hemophilia b30.5F2, F3, F9, F8, F10, F7
3prothrombin deficiency30.5F5, F2, SERPINC1
4factor v deficiency30.5F2, F3, F5, F8
5arthropathy30.3F8, F9
6factor viii deficiency30.3SERPINC1, F2, F3, F7, F10, F5
7leukemia30.1F9, F8, EGF, F10
8purpura30.1SERPINC1
9stroke, ischemic30.1F2, F5
10nephrotic syndrome30.1SERPINC1, F9
11homocystinuria30.1SERPINC1, F5
12cardiac tamponade30.1F8
13factor x deficiency30.1F2, F3, F7, F10, F5, F9
14pulmonary embolism30.1F9, F5, F10, F3, F2, SERPINC1
15atherosclerosis30.1HNF4A, TFPI, GLA, F7, F3, GGT1
16thrombocytopenia30.0F9, F8, F5, F10, F7, F3
17hepatitis a29.8F2, F8
18melanoma29.8F10, ABCC2
19lung cancer29.8HNF4A, PSG1, EGF, F10, ABCC2
20hepatitis29.7HNF4A, F9, F8, F10, ABCC2, F2
21hemophilia10.5
22cerebritis10.4
23abdominal aortic aneurysm10.2
24aortic aneurysm10.2
25proconvertin deficiency, congenital10.2
26marfan syndrome10.1
27klippel-trenaunay syndrome10.1
28familial mediterranean fever10.1
29gilbert syndrome10.1
30mucopolysaccharidosis i10.1
31cleft palate10.1
32hypertrophic cardiomyopathy10.1
33liposarcoma10.1
34malaria10.1
35mucopolysaccharidosis10.1
36retinitis10.1
37vaginitis10.1
38vasculitis10.1
39hemophilia a, acquired10.1
40acute leukemia10.0
41megaloblastic anemia10.0
42hemorrhagic disease10.0F9
43peritonitis10.0F2
44eclampsia10.0SERPINC1
45sneddon syndrome10.0SERPINC1
46carotid artery thrombosis10.0F3
47central retinal vein occlusion10.0F5
48ovarian hyperstimulation syndrome10.0F5
49patent foramen ovale10.0F5
50ischemia10.0F10

Graphical network of the top 20 diseases related to Factor Vii Deficiency:



Diseases related to factor vii deficiency

Clinical Features for Factor Vii Deficiency

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

227500

Clinical synopsis from OMIM:

227500

Drugs & Therapeutics for Factor Vii Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Factor Vii Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Vii Deficiency

Search NIH Clinical Center for Factor Vii Deficiency

Search CenterWatch for Factor Vii Deficiency

Inferred drug relations via UMLS60/NDF-RT40:

Show with subtypes

Genetic Tests for Factor Vii Deficiency

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Factor Vii Deficiency:

id Genetic test Affiliating Genes
1 Factor Vii Deficiency20 22 F7

Anatomical Context for Factor Vii Deficiency

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

MalaCards organs/tissues related to Factor Vii Deficiency:

32
Liver, Heart, Testes, Bone marrow, Bone, Brain

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Factor Vii Deficiency:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate

Animal Models for Factor Vii Deficiency or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Factor Vii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5F9, F5, GLA, ABCC2, SERPINC1, HNF4A
2MP:00053858.2F9, TFPI, F10, GLA, F7, F3
3MP:00053877.0F9, F8, TFPI, EGF, GLA, F3
4MP:00107686.7F5, TFPI, F8, F9, HNF4A, F10
5MP:00053766.4SERPINC1, HNF4A, F9, F8, TFPI, F5

Publications for Factor Vii Deficiency

About this section
Sources:
50PubMed
See all sources

Articles related to Factor Vii Deficiency:

(show top 50)    (show all 366)
idTitleAuthorsYear
1
Is prophylaxis required for delivery in women with factor VII deficiency? (23607277)
2013
2
Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes. (22576285)
2012
3
Cardiac surgery without blood products in a Jehovah's Witness child with factor VII deficiency. (21924639)
2012
4
Invasive procedures and minor surgery in factor VII deficiency. (22356641)
2012
5
Recombinant, activated factor VII for surgery in factor VII deficiency: a prospective evaluation - the surgical STER. (21158750)
2011
6
Factor VII deficiency due to compound heterozygosity for Leu-48Pro mutation and a novel Pro260Leu mutation. (21441234)
2011
7
Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency. (19822353)
2010
8
Factor VII Deficiency. (19598068)
2009
9
Recombinant activated factor VII for a patient with factor VII deficiency undergoing urgent intracerebral haematoma evacuation with underlying cavernous angioma. (19846405)
2009
10
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency. (18156490)
2008
11
Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients. (17606459)
2007
12
Life-threatening bleeding in a patient with a lupus inhibitor and probable acquired factor VII deficiency. (17102654)
2006
13
Inherited factor VII deficiency: identification of two novel mutations (A191V and T239P) in the catalytic domain. (15907525)
2005
14
Gene diagnosis of antithrombin deficiency and factor VII deficiency]. (15773338)
2005
15
Clinical picture and management of congenital factor VII deficiency. (15479395)
2004
16
Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients. (15456489)
2004
17
Hepatocyte transplantation for inherited factor VII deficiency. (15614156)
2004
18
Factor VII deficiency. (14567537)
2003
19
Successful treatment of acquired factor VIII deficiency in a child using activated factor VII concentrates: case report and review of the literature. (12847330)
2003
20
First manifestation of a hereditary homozygous factor VII deficiency in a 3-year-old girl suspected as purpura fulminans. (12528040)
2003
21
Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain. (12181027)
2002
22
Paracetamol poisoning unmasking factor VII deficiency. (11943961)
2002
23
Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. (11225604)
2001
24
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. (11091194)
2000
25
Factor VII deficiency in a patient with retinal arteriolar tortuosity syndrome. (11116692)
2000
26
Factor VII deficiency in a mixed breed dog. (10416073)
1999
27
Combined hereditary deficiency in factors VII and X revealed by a prolonged partial thromboplastin time]. (9084708)
1997
28
Fatal intracranial hemorrhage in a newborn with factor VII deficiency. (8701495)
1996
29
Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. (8883260)
1996
30
A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. (8652821)
1996
31
Tissue factor pathway inhibitor activity in factor VII deficiency. (8558100)
1995
32
Molecular analysis of Polish patients with factor VII deficiency. (7919338)
1994
33
Congenital deficiency of factor VII in subarachnoid hemorrhage. (8303765)
1994
34
Cardiac surgery with extracorporeal circulation in severe factor VII deficiency. (8477910)
1993
35
Factor VII deficiency with intracranial hemorrhage: a case report. (8252461)
1993
36
A new method for factor VII deficient substrate preparation and coagulation studies in malaria. (7886582)
1993
37
Congenital factor VII deficiency. (3591219)
1987
38
Hereditary blood coagulation factor-VII deficiency in the beagle: immunological characterisation of the defect. (2870866)
1986
39
Multiple extractions in a patient with factor VII deficiency. (3157789)
1985
40
Surgery for scoliosis in congenital factor VII deficiency. (7081158)
1982
41
Bloody tears due to congenital factor VII deficiency. (677644)
1978
42
Factor VII deficiency and surgery. Is preoperative replacement therapy necessary? (577560)
1977
43
The clinical aspects of canine factor-VII deficiency including some case histories. (4449220)
1974
44
Congenital hypoproconvertinemia (factor VII deficiency). A report of two cases belonging to two different kindreds. (4201748)
1973
45
Deep vein thrombosis and pulmonary embolism in congenital factor VII deficiency. (4682039)
1973
46
Another patient with a congenital hemorrhagic disorder intermediate between factor X and factor VII deficiency. (5311839)
1970
47
Gilbert syndrome and factor-VII deficiency. (4194152)
1970
48
Canine factor-VII deficiency. (14477610)
1962
49
Hemophilia A and concurrent factor VII deficiency. Studies of a patient with complicating cardiac tamponade. (13703901)
1961
50
Christmas disease associated with factor VII deficiency; case report with family survey. (13230488)
1955

Genetic Variations for Factor Vii Deficiency

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Factor Vii Deficiency:

62 (show all 107)
id Symbol AA change Variation ID SNP ID
1F7p.Arg139LysVAR_006497
2F7p.Arg139GlnVAR_006498rs150525536
3F7p.Arg139TrpVAR_006499
4F7p.Gly157SerVAR_006500
5F7p.Gly157CysVAR_006501
6F7p.Gln160ArgVAR_006502
7F7p.Pro194ThrVAR_006503
8F7p.Lys197GluVAR_006504
9F7p.Arg212GlnVAR_006505
10F7p.Cys238TyrVAR_006506
11F7p.Arg283TrpVAR_006507
12F7p.Ala304ValVAR_006508
13F7p.Arg307HisVAR_006509
14F7p.Glu325LysVAR_006510
15F7p.Ala354ValVAR_006511rs36209567
16F7p.Met358IleVAR_006512
17F7p.Met358ValVAR_006513
18F7p.Arg364GlnVAR_006514rs121964926
19F7p.Cys370PheVAR_006515
20F7p.Gly402ArgVAR_006516
21F7p.Gly402GluVAR_006517
22F7p.Thr419MetVAR_006519
23F7p.Leu13ProVAR_014391
24F7p.Cys389GlyVAR_014392
25F7p.Leu73GlnVAR_014405rs45572939
26F7p.Glu79GlnVAR_014406
27F7p.Cys121PheVAR_014407
28F7p.Leu125ProVAR_014408
29F7p.Tyr128CysVAR_014409
30F7p.Cys151SerVAR_014410
31F7p.Gly157ValVAR_014411
32F7p.Cys195ArgVAR_014412
33F7p.Thr241AsnVAR_014413
34F7p.Asp302HisVAR_014414
35F7p.Asp302AsnVAR_014415
36F7p.Ala304ThrVAR_014416
37F7p.Arg307CysVAR_014417
38F7p.Thr332MetVAR_014418
39F7p.Gly391SerVAR_014419rs190485816
40F7p.Gly435GluVAR_014420
41F7p.Phe64LeuVAR_015135
42F7p.Ser120ProVAR_015136
43F7p.Glu154LysVAR_015137rs146795869
44F7p.Gly216AspVAR_015138
45F7p.Cys254TyrVAR_015139
46F7p.Ala266ThrVAR_015140
47F7p.Val312MetVAR_015141
48F7p.Val341PheVAR_015142
49F7p.Pro363ArgVAR_015143
50F7p.Asp403HisVAR_015144
51F7p.Cys82PheVAR_065370
52F7p.Cys82ArgVAR_065371
53F7p.Glu85LysVAR_065373
54F7p.Arg88GlyVAR_065374
55F7p.Arg88ProVAR_065375
56F7p.Asn117AspVAR_065376
57F7p.Gly138AspVAR_065377
58F7p.Gly156SerVAR_065378
59F7p.Ser171PheVAR_065379
60F7p.Gly177ArgVAR_065380
61F7p.Leu181ProVAR_065381
62F7p.Asp183AsnVAR_065382
63F7p.Ser186PheVAR_065383
64F7p.Pro189SerVAR_065384
65F7p.Pro194LeuVAR_065385
66F7p.Ile198ThrVAR_065386
67F7p.Gly240ArgVAR_065387
68F7p.Ser250PheVAR_065388
69F7p.Ala251ProVAR_065389
70F7p.Ala251ThrVAR_065390
71F7p.Cys254ArgVAR_065391
72F7p.Leu264ProVAR_065392
73F7p.Asp272AsnVAR_065393
74F7p.Asp277AsnVAR_065394
75F7p.Thr298IleVAR_065395
76F7p.His301GlnVAR_065396
77F7p.Leu314ValVAR_065397
78F7p.Leu321PheVAR_065398
79F7p.Leu323ArgVAR_065399
80F7p.Arg326GlnVAR_065400
81F7p.Arg337CysVAR_065401
82F7p.Gly343SerVAR_065402
83F7p.Trp344ArgVAR_065403
84F7p.Gly345SerVAR_065404
85F7p.Arg350CysVAR_065405
86F7p.Leu360ProVAR_065406
87F7p.Pro363HisVAR_065407
88F7p.Arg364TrpVAR_065408
89F7p.Arg375TrpVAR_065409rs137919286
90F7p.Thr384MetVAR_065410
91F7p.Met387ThrVAR_065411
92F7p.Met387ValVAR_065412
93F7p.Phe388SerVAR_065413
94F7p.Gly391CysVAR_065414
95F7p.Asp398GluVAR_065415
96F7p.Lys401GluVAR_065416
97F7p.Ser404AsnVAR_065417
98F7p.His408GlnVAR_065418rs121964936
99F7p.His408ArgVAR_065419
100F7p.Arg413GlyVAR_065420
101F7p.Gly414CysVAR_065421
102F7p.Val422PheVAR_065422
103F7p.Gly425AlaVAR_065423
104F7p.Gly425CysVAR_065424
105F7p.Ala429ThrVAR_065425
106F7p.Gly432AspVAR_065426
107F7p.Tyr437PheVAR_065427

Expression for genes affiliated with Factor Vii Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Factor Vii Deficiency

Search GEO for disease gene expression data for Factor Vii Deficiency.

Pathways for genes affiliated with Factor Vii Deficiency

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 51QIAGEN, 52R&D Systems, 29KEGG
See all sources

Compounds for genes affiliated with Factor Vii Deficiency

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Factor Vii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 173)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.4F9, SERPINC1
2cardiolipin44 1111.3F10
3coumarins4410.1F10, F9, F3
4inogatran449.8F3, F2, F5, SERPINC1
5acetaminophen44 2 49 11 2413.8GGT1, F10, F9
6dextran sulfate449.6F5, F9, F10
7rivaroxaban44 1110.6F10, F3, F2, SERPINC1
8ancrod449.6SERPINC1, F10, F5, F2
9acenocoumarol44 49 1111.6F9, F5, F3, F2
10Coagulation Factor IX119.6F7, F10, F8, F2
11ecarin449.6F5, SERPINC1, F2, F3, F10
12organon449.6F10, SERPINC1, F2, F9, F3
13spectrozyme449.6F5, F2, SERPINC1, F10, F3
14danaparoid449.6SERPINC1, F2, F3, F5, F10
15ximelagatran44 1110.6F10, F5, F2, SERPINC1, F3
16heparinoids449.6SERPINC1, F2, F5, F10, F3
17phenprocoumon44 49 1111.5F2, F3, F9, SERPINC1
18Coagulation factor VIIa119.5F3, F7, F10, TFPI
19bivalirudin44 1110.5F5, F10, F3, SERPINC1, F2
20levonorgestrel44 59 28 1112.5F2, F5, F7, SERPINC1, F3
21argatroban44 1110.5SERPINC1, F2, F3, F10, F5
22rfviii449.5F8, F5, F10, F9
23protamine sulfate449.5F2, F5, F10, F3, SERPINC1
24tranexamic acid44 1110.4F2, F8, SERPINC1, F9, F3
25heparin44 28 11 2412.4F9, F8, TFPI, F10
26aprotinin44 1110.4F5, SERPINC1, F9, F3, F10
27cacl2449.3F5, F10, F3, F8, F9
28kininogen449.3F3, SERPINC1, F9, F5, F7, F2
29fondaparinux449.3SERPINC1, F10, F2, F9, F3, F5
30hydroxyethyl starch449.3SERPINC1, F2, F3, F8
31coumarin44 2 49 2412.3F9, F10, F3, F2, SERPINC1, F5
32dermatan sulfate449.3SERPINC1, F2, F3, F9, F5, F10
33ristocetin449.2SERPINC1, F2, F3, F8, F9, F5
34kaolin449.2F9, F8, F5, F10, F3, F2
35desmopressin44 59 28 1112.2F9, SERPINC1, F2, F3, F5, F8
36aspartate449.1F7, F2, F10, F8, GLA
37ppack449.1F3, F10, SERPINC1, F2
38benzamidine44 1110.1PRSS3, F10, F5, F9, SERPINC1
39protamine449.0SERPINC1, F2, F3, F10, F5
40homocysteine44 249.9F8, SERPINC1, F3, F5, F2, F9
41hirudin448.9F3, SERPINC1, F2, F10, F8, F5
42citrate448.8F8, F2, F9, F3, SERPINC1, F10
43aspirin44 49 28 2411.7F5, HNF4A, F10, F3, F2, SERPINC1
44fibrinogen448.6F7, F8, F5, F10, F3, F2
45gamma-carboxyglutamic acid448.2F5, EGF, F10, GLA, F7, F3
46phospholipid447.8F3, F2, GFM1, F10, F5, F8
47creatinine447.6SERPINC1, F5, F8, F9, GLA, F7
48alanine447.6TFPI, F9, F8, F5, F10, F2
49serine447.6GFM1, F7, GLA, F10, TFPI, F8
50arginine447.0GLA, SERPINC1, GGT1, F9, PRSS3, F8

GO Terms for genes affiliated with Factor Vii Deficiency

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Factor Vii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to external side of plasma membraneGO:0312339.6F3, F10
2platelet alpha granule lumenGO:0310939.5F5, EGF, F8
3Golgi lumenGO:0057969.5F9, F10, F7, F2
4endoplasmic reticulum lumenGO:0057889.4F9, F10, F7, F2
5extracellular spaceGO:0056157.6F8, TFPI, EGF, F5, PRSS3, F7
6plasma membraneGO:0058866.7F5, EGF, TFPI, F8, F9, F10
7extracellular regionGO:0055765.9SERPINC1, F9, PSG1, F8, TFPI, EGF

Biological processes related to Factor Vii Deficiency according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.2F3, F7
2positive regulation of positive chemotaxisGO:05092710.0F3, F7
3positive regulation of protein kinase B signaling cascadeGO:0518979.8F10, F7, F3
4positive regulation of blood coagulationGO:0301949.7F2, F7
5peptidyl-glutamic acid carboxylationGO:0171879.7F2, F7, F10, F9
6positive regulation of cell migrationGO:0303359.7F3, F7, F10
7post-translational protein modificationGO:0436879.6F9, F10, F7, F2
8blood coagulation, intrinsic pathwayGO:0075979.5F9, F8, F10, F2
9platelet activationGO:0301689.4F2, F5, EGF, F8
10platelet degranulationGO:0025769.4F8, EGF, F5
11blood coagulation, extrinsic pathwayGO:0075989.2F9, TFPI, F10, F7, F3
12proteolysisGO:0065089.0F9, F10, PRSS3, F7, F2
13blood coagulationGO:0075967.5SERPINC1, HNF4A, F9, F8, TFPI, EGF

Molecular functions related to Factor Vii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.3F2, F7, GLA, HNF4A
2serine-type endopeptidase activityGO:0042528.8F2, F7, PRSS3, F10, F9
3calcium ion bindingGO:0055098.2F9, EGF, F10, PRSS3, F7, F2
4protein bindingGO:0055155.7F10, F5, EGF, F8, HNF4A, PRSS3

Products for genes affiliated with Factor Vii Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Vii Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet