THPH5
MCID: THR089
MIFTS: 28

Thrombophilia Due to Protein S Deficiency, Autosomal Dominant (THPH5)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

MalaCards integrated aliases for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant:

Name: Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 57 72 29 13 6 70
Thph5 57 12 72
Thrombophilia Autosomal Recessive Due to Protein S Deficiency 72
Autosomal Dominant Thrombophilia Due to Protein S Deficiency 12
Thrombophilia Autosomal Dominant Due to Protein S Deficiency 72

Characteristics:

OMIM®:

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

Miscellaneous:
protein s deficiency is found in 2-3% of patients with thromboembolism
acquired protein s deficiency seen in pregnancy, oral contraceptive use, warfarin use, liver disease, dic, and diabetes


HPO:

31
thrombophilia due to protein s deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111900
OMIM® 57 612336
OMIM Phenotypic Series 57 PS188050
MeSH 44 D018455
UMLS 70 C3278211

Summaries for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

OMIM® : 57 Heterozygous protein S deficiency, like protein C deficiency (176860), is characterized by recurrent venous thrombosis. Bertina (1990) classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA (120830). Zoller et al. (1995) observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency. See also autosomal recessive thrombophilia due to protein S deficiency (THPH6; 614514), which is a more severe disorder. (612336) (Updated 05-Apr-2021)

MalaCards based summary : Thrombophilia Due to Protein S Deficiency, Autosomal Dominant, also known as thph5, is related to thrombophilia due to protein s deficiency, autosomal recessive. An important gene associated with Thrombophilia Due to Protein S Deficiency, Autosomal Dominant is PROS1 (Protein S). Affiliated tissues include liver, and related phenotypes are purpura and pulmonary embolism

Disease Ontology : 12 A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has material basis in heterozygous mutation in PROS1 on chromosome 3q11.1.

UniProtKB/Swiss-Prot : 72 Thrombophilia due to protein S deficiency, autosomal dominant: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity.

Related Diseases for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Diseases related to Thrombophilia Due to Protein S Deficiency, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thrombophilia due to protein s deficiency, autosomal recessive 10.9

Symptoms & Phenotypes for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Human phenotypes related to Thrombophilia Due to Protein S Deficiency, Autosomal Dominant:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 purpura 31 HP:0000979
2 pulmonary embolism 31 HP:0002204
3 arterial thrombosis 31 HP:0004420
4 hypercoagulability 31 HP:0100724
5 warfarin-induced skin necrosis 31 HP:0001038
6 cerebral venous thrombosis 31 HP:0005305
7 reduced protein s activity 31 HP:0004855
8 superficial thrombophlebitis 31 HP:0002638

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
pulmonary embolism

Skin Nails Hair Skin:
warfarin-induced skin necrosis

Cardiovascular Vascular:
arterial thrombosis
cerebral venous thrombosis
superficial thrombophlebitis
mesenteric thrombosis
venous thrombosis, recurrent

Laboratory Abnormalities:
absent/reduced protein s and normal total proteins in heterozygote

Clinical features from OMIM®:

612336 (Updated 05-Apr-2021)

Drugs & Therapeutics for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Genetic Tests for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Genetic tests related to Thrombophilia Due to Protein S Deficiency, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 29 PROS1

Anatomical Context for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

MalaCards organs/tissues related to Thrombophilia Due to Protein S Deficiency, Autosomal Dominant:

40
Liver

Publications for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Articles related to Thrombophilia Due to Protein S Deficiency, Autosomal Dominant:

(show all 36)
# Title Authors PMID Year
1
Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation. 57 6
21172841 2010
2
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. 57 6
10447256 1999
3
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. 6 57
7545463 1995
4
Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans. 6
27652279 2016
5
Common genetic risk factors of venous thromboembolism in Western and Asian populations. 6
26985940 2016
6
Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation. 6
26251307 2015
7
Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum. 6
21811774 2011
8
Mesenteric venous thrombosis in a child with type 2 protein S deficiency. 6
21285903 2011
9
The association of protein S Tokushima-K196E with a risk of deep vein thrombosis. 6
20811787 2010
10
Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. 6
19826897 2009
11
Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. 57
19466456 2009
12
Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. 6
18954896 2009
13
Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. 6
16961608 2006
14
Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. 6
16461766 2006
15
Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. 57
10706858 2000
16
A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort. 6
9657428 1998
17
Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. 57
7780139 1995
18
Deficiency of both protein C and protein S in a family with ischemic strokes in young adults. 57
8035922 1994
19
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. 6
8113388 1994
20
Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. 6
8298131 1994
21
Autoimmune protein S deficiency. 57
8247052 1993
22
Brief report: autoimmune protein S deficiency in a boy with severe thromboembolic disease. 57
8497285 1993
23
Purpura fulminans due to protein S deficiency following chickenpox. 57
1386247 1992
24
Protein-S, a vitamin K-dependent protein, is a bone matrix component synthesized and secreted by osteoblasts. 57
1531628 1992
25
Mesenteric vein thrombosis associated with a familial deficiency of free protein S. 57
1828142 1991
26
Hereditary protein S deficiency in young adults with arterial occlusive disease. 57
2148653 1990
27
Protein S deficiency associated with central retinal artery occlusion. 57
2142417 1990
28
Bone mineral density and its association with inherited protein S deficiency. 57
2141197 1990
29
Heterozygous protein-S deficiency: a study of a large kindred. 57
2147089 1990
30
Free protein S deficiency: a possible association with cerebrovascular occlusion. 57
2531944 1989
31
A new case of 'type II' inherited protein S deficiency. 57
2532929 1989
32
Familial dysfunction of protein S. 57
2530648 1989
33
Hereditary protein S deficiency: clinical manifestations. 57
2952034 1987
34
A protein S deficient family with portal vein thrombosis. 57
2935967 1985
35
Recurrent venous thromboembolism in patients with a partial deficiency of protein S. 57
6239102 1984
36
Plasma protein S deficiency in familial thrombotic disease. 57
6238642 1984

Variations for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

ClinVar genetic disease variations for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant:

6 (show top 50) (show all 99)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROS1 NM_000313.3(PROS1):c.773A>G (p.Asn258Ser) SNV Pathogenic 13317 rs121918473 GRCh37: 3:93617368-93617368
GRCh38: 3:93898524-93898524
2 PROS1 NM_000313.3(PROS1):c.586A>G (p.Lys196Glu) SNV Pathogenic 13318 rs121918474 GRCh37: 3:93624643-93624643
GRCh38: 3:93905799-93905799
3 PROS1 PROS1, IVS10DS, G-A, +5 SNV Pathogenic 13319 GRCh37:
GRCh38:
4 PROS1 NM_000313.3(PROS1):c.2031A>T (p.Ter677Tyr) SNV Pathogenic 13320 rs267606981 GRCh37: 3:93593089-93593089
GRCh38: 3:93874245-93874245
5 PROS1 PROS1, IVS11AS, A-G, -9 SNV Pathogenic 13321 GRCh37:
GRCh38:
6 PROS1 NM_000313.3(PROS1):c.835C>T (p.Gln279Ter) SNV Pathogenic 13322 rs121918475 GRCh37: 3:93617306-93617306
GRCh38: 3:93898462-93898462
7 PROS1 NM_000313.3(PROS1):c.1063C>T (p.Arg355Cys) SNV Pathogenic 29846 rs387906674 GRCh37: 3:93611869-93611869
GRCh38: 3:93893025-93893025
8 PROS1 NM_000313.3(PROS1):c.1681C>G (p.Arg561Gly) SNV Pathogenic 13323 rs121918476 GRCh37: 3:93595999-93595999
GRCh38: 3:93877155-93877155
9 PROS1 NM_000313.3(PROS1):c.77-1G>C SNV Pathogenic 581502 rs759677822 GRCh37: 3:93646252-93646252
GRCh38: 3:93927408-93927408
10 PROS1 NM_000313.4(PROS1):c.728-1G>A SNV Likely pathogenic 162509 rs368074804 GRCh37: 3:93617414-93617414
GRCh38: 3:93898570-93898570
11 PROS1 NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) SNV Likely pathogenic 812150 rs1576182848 GRCh37: 3:93617375-93617375
GRCh38: 3:93898531-93898531
12 PROS1 NM_000313.3(PROS1):c.698G>A (p.Arg233Lys) SNV Conflicting interpretations of pathogenicity 161346 rs41267007 GRCh37: 3:93619677-93619677
GRCh38: 3:93900833-93900833
13 PROS1 NM_000313.3(PROS1):c.76+7A>G SNV Conflicting interpretations of pathogenicity 215729 rs201928951 GRCh37: 3:93692511-93692511
GRCh38: 3:93973667-93973667
14 PROS1 NM_000313.3(PROS1):c.431C>A (p.Thr144Asn) SNV Uncertain significance 161347 rs146366248 GRCh37: 3:93624903-93624903
GRCh38: 3:93906059-93906059
15 PROS1 NM_000313.3(PROS1):c.284G>A (p.Gly95Glu) SNV Uncertain significance 161354 rs144526169 GRCh37: 3:93629525-93629525
GRCh38: 3:93910681-93910681
16 PROS1 NM_000313.3(PROS1):c.585T>C (p.Asn195=) SNV Uncertain significance 346890 rs372109285 GRCh37: 3:93624644-93624644
GRCh38: 3:93905800-93905800
17 PROS1 NM_000313.3(PROS1):c.503A>G (p.Asn168Ser) SNV Uncertain significance 346891 rs144430063 GRCh37: 3:93624726-93624726
GRCh38: 3:93905882-93905882
18 PROS1 NM_000313.4(PROS1):c.1871-14T>G SNV Uncertain significance 801989 rs754929347 GRCh37: 3:93593263-93593263
GRCh38: 3:93874419-93874419
19 PROS1 NM_000313.3(PROS1):c.227C>T (p.Pro76Leu) SNV Uncertain significance 540211 rs73846070 GRCh37: 3:93646101-93646101
GRCh38: 3:93927257-93927257
20 PROS1 NM_000313.3(PROS1):c.1816G>A (p.Val606Ile) SNV Uncertain significance 220400 rs371885410 GRCh37: 3:93595864-93595864
GRCh38: 3:93877020-93877020
21 PROS1 NM_000313.4(PROS1):c.965+9C>T SNV Uncertain significance 902411 GRCh37: 3:93615411-93615411
GRCh38: 3:93896567-93896567
22 PROS1 NC_000003.12:g.93973936C>A SNV Uncertain significance 902480 GRCh37: 3:93692780-93692780
GRCh38: 3:93973936-93973936
23 PROS1 NC_000003.12:g.93973939G>C SNV Uncertain significance 902481 GRCh37: 3:93692783-93692783
GRCh38: 3:93973939-93973939
24 PROS1 NM_000313.4(PROS1):c.*550G>A SNV Uncertain significance 903194 GRCh37: 3:93592539-93592539
GRCh38: 3:93873695-93873695
25 PROS1 NM_000313.4(PROS1):c.*385A>G SNV Uncertain significance 903197 GRCh37: 3:93592704-93592704
GRCh38: 3:93873860-93873860
26 PROS1 NM_000313.4(PROS1):c.728-12T>C SNV Uncertain significance 903265 GRCh37: 3:93617425-93617425
GRCh38: 3:93898581-93898581
27 PROS1 NM_000313.4(PROS1):c.563A>G (p.Asn188Ser) SNV Uncertain significance 903266 GRCh37: 3:93624666-93624666
GRCh38: 3:93905822-93905822
28 PROS1 NM_000313.4(PROS1):c.947G>A (p.Arg316His) SNV Uncertain significance 983112 GRCh37: 3:93615438-93615438
GRCh38: 3:93896594-93896594
29 PROS1 NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile) SNV Uncertain significance 899589 GRCh37: 3:93593231-93593231
GRCh38: 3:93874387-93874387
30 PROS1 NM_000313.4(PROS1):c.346+15C>T SNV Uncertain significance 899662 GRCh37: 3:93629448-93629448
GRCh38: 3:93910604-93910604
31 PROS1 NM_000313.4(PROS1):c.311C>A (p.Thr104Asn) SNV Uncertain significance 899663 GRCh37: 3:93629498-93629498
GRCh38: 3:93910654-93910654
32 PROS1 NM_000313.4(PROS1):c.228G>A (p.Pro76=) SNV Uncertain significance 899664 GRCh37: 3:93646100-93646100
GRCh38: 3:93927256-93927256
33 PROS1 NC_000003.12:g.93873050G>C SNV Uncertain significance 900650 GRCh37: 3:93591894-93591894
GRCh38: 3:93873050-93873050
34 PROS1 NM_000313.4(PROS1):c.*1186C>T SNV Uncertain significance 900651 GRCh37: 3:93591903-93591903
GRCh38: 3:93873059-93873059
35 PROS1 NM_000313.4(PROS1):c.*1103A>G SNV Uncertain significance 900652 GRCh37: 3:93591986-93591986
GRCh38: 3:93873142-93873142
36 PROS1 NM_000313.4(PROS1):c.*1082A>G SNV Uncertain significance 900653 GRCh37: 3:93592007-93592007
GRCh38: 3:93873163-93873163
37 PROS1 NM_000313.4(PROS1):c.*1046T>C SNV Uncertain significance 900654 GRCh37: 3:93592043-93592043
GRCh38: 3:93873199-93873199
38 PROS1 NM_000313.4(PROS1):c.*1014T>C SNV Uncertain significance 900655 GRCh37: 3:93592075-93592075
GRCh38: 3:93873231-93873231
39 PROS1 NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser) SNV Uncertain significance 900727 GRCh37: 3:93593244-93593244
GRCh38: 3:93874400-93874400
40 PROS1 NM_000313.4(PROS1):c.1752G>A (p.Leu584=) SNV Uncertain significance 900728 GRCh37: 3:93595928-93595928
GRCh38: 3:93877084-93877084
41 PROS1 NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn) SNV Uncertain significance 900729 GRCh37: 3:93595972-93595972
GRCh38: 3:93877128-93877128
42 PROS1 NM_000313.4(PROS1):c.1502C>G (p.Ser501Cys) SNV Uncertain significance 900730 GRCh37: 3:93598149-93598149
GRCh38: 3:93879305-93879305
43 PROS1 NM_000313.4(PROS1):c.-48C>A SNV Uncertain significance 900811 GRCh37: 3:93692641-93692641
GRCh38: 3:93973797-93973797
44 PROS1 NC_000003.12:g.93973916C>A SNV Uncertain significance 900812 GRCh37: 3:93692760-93692760
GRCh38: 3:93973916-93973916
45 PROS1 NM_000313.3(PROS1):c.-43G>A SNV Uncertain significance 346895 rs370938580 GRCh37: 3:93692636-93692636
GRCh38: 3:93973792-93973792
46 PROS1 NM_000313.3(PROS1):c.2003C>T (p.Ser668Leu) SNV Uncertain significance 346880 rs886058926 GRCh37: 3:93593117-93593117
GRCh38: 3:93874273-93874273
47 PROS1 NM_000313.3(PROS1):c.*155T>A SNV Uncertain significance 346877 rs534064879 GRCh37: 3:93592934-93592934
GRCh38: 3:93874090-93874090
48 PROS1 NM_000313.3(PROS1):c.*301A>G SNV Uncertain significance 346874 rs569117154 GRCh37: 3:93592788-93592788
GRCh38: 3:93873944-93873944
49 PROS1 NM_000313.3(PROS1):c.1021G>A (p.Ala341Thr) SNV Uncertain significance 346885 rs189883848 GRCh37: 3:93611911-93611911
GRCh38: 3:93893067-93893067
50 PROS1 NM_000313.3(PROS1):c.1377A>G (p.Gly459=) SNV Uncertain significance 346882 rs371312357 GRCh37: 3:93603687-93603687
GRCh38: 3:93884843-93884843

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant:

72 (show top 50) (show all 88)
# Symbol AA change Variation ID SNP ID
1 PROS1 p.Lys196Glu VAR_005566 rs121918474
2 PROS1 p.Asn258Ser VAR_005567 rs121918473
3 PROS1 p.Gly482Cys VAR_014116
4 PROS1 p.Tyr485Cys VAR_014117 rs132366395
5 PROS1 p.Arg561Gly VAR_014119 rs121918476
6 PROS1 p.Thr78Met VAR_014666 rs6122
7 PROS1 p.Leu15His VAR_046802
8 PROS1 p.Val18Glu VAR_046803
9 PROS1 p.Arg40Leu VAR_046804 rs7614835
10 PROS1 p.Arg41His VAR_046805 rs963668412
11 PROS1 p.Lys50Glu VAR_046806 rs748630360
12 PROS1 p.Gly52Asp VAR_046807
13 PROS1 p.Glu67Ala VAR_046808 rs766423432
14 PROS1 p.Ala68Asp VAR_046809
15 PROS1 p.Phe72Cys VAR_046810
16 PROS1 p.Val87Leu VAR_046812 rs557733421
17 PROS1 p.Cys88Tyr VAR_046813
18 PROS1 p.Arg90Cys VAR_046814 rs765935815
19 PROS1 p.Arg90His VAR_046815 rs200886866
20 PROS1 p.Gly95Glu VAR_046816 rs144526169
21 PROS1 p.Gly95Arg VAR_046817
22 PROS1 p.Arg101Cys VAR_046819 rs778731080
23 PROS1 p.Arg111Ser VAR_046820
24 PROS1 p.Cys121Tyr VAR_046821
25 PROS1 p.Asp129Gly VAR_046822 rs749024073
26 PROS1 p.Thr144Asn VAR_046823 rs146366248
27 PROS1 p.Trp149Cys VAR_046824
28 PROS1 p.Asp157Gly VAR_046825 rs751090951
29 PROS1 p.Cys161Gly VAR_046826
30 PROS1 p.Asn166Tyr VAR_046827
31 PROS1 p.Cys175Phe VAR_046829
32 PROS1 p.Cys186Tyr VAR_046830 rs779391826
33 PROS1 p.Glu204Gly VAR_046831
34 PROS1 p.Cys241Ser VAR_046833
35 PROS1 p.Asp243Asn VAR_046834
36 PROS1 p.Asp245Gly VAR_046835 rs121111720
37 PROS1 p.Cys247Gly VAR_046836
38 PROS1 p.Glu249Lys VAR_046837 rs145567581
39 PROS1 p.Cys265Arg VAR_046838
40 PROS1 p.Cys265Trp VAR_046839
41 PROS1 p.Tyr266Cys VAR_046840 rs777616039
42 PROS1 p.Cys267Ser VAR_046841
43 PROS1 p.Leu300Pro VAR_046842
44 PROS1 p.Ser324Pro VAR_046843
45 PROS1 p.Gly336Asp VAR_046844
46 PROS1 p.Gly336Ser VAR_046845
47 PROS1 p.Gly336Val VAR_046846
48 PROS1 p.Leu339Pro VAR_046847
49 PROS1 p.Leu351Pro VAR_046848
50 PROS1 p.Arg355His VAR_046849 rs780863931

Expression for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Search GEO for disease gene expression data for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant.

Pathways for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

GO Terms for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

Sources for Thrombophilia Due to Protein S Deficiency, Autosomal Dominant

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