THPH6
MCID: THR088
MIFTS: 31

Thrombophilia Due to Protein S Deficiency, Autosomal Recessive (THPH6)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases

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

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

Name: Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 57 72 29 13 6 39 70
Thph6 57 12 72
Autosomal Recessive Thrombophilia Due to Congenital Protein S Deficiency 12 58
Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 12 58
Autosomal Recessive Thrombophilia Due to Protein S Deficiency 12

Characteristics:

Orphanet epidemiological data:

58
severe hereditary thrombophilia due to congenital protein s deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy or childhood
increased abortuses of homozygous or compound heterozygous fetuses
secondary hemorrhage


HPO:

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


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare haematological diseases


Summaries for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

OMIM® : 57 Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984). See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene. (614514) (Updated 05-Apr-2021)

MalaCards based summary : Thrombophilia Due to Protein S Deficiency, Autosomal Recessive, also known as thph6, is related to thrombophilia due to protein s deficiency, autosomal dominant. An important gene associated with Thrombophilia Due to Protein S Deficiency, Autosomal Recessive is PROS1 (Protein S). Related phenotypes are purpura and retinopathy

Disease Ontology : 12 A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has material basis in homozygous or compound heterozygous mutation in PROS1 on chromosome 3q11.1.

UniProtKB/Swiss-Prot : 72 Thrombophilia due to protein S deficiency, autosomal recessive: A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage.

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

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

# Related Disease Score Top Affiliating Genes
1 thrombophilia due to protein s deficiency, autosomal dominant 11.0

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

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

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 purpura 58 31 hallmark (90%) Very frequent (99-80%) HP:0000979
2 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
3 thrombophlebitis 58 31 frequent (33%) Frequent (79-30%) HP:0004418
4 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
5 deep venous thrombosis 58 31 frequent (33%) Frequent (79-30%) HP:0002625
6 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
7 abnormality of the cerebral vasculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0100659
8 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
9 arterial thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004420
10 venous insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0005293
11 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
12 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
13 blindness 31 HP:0000618
14 aplasia/hypoplasia of the skin 58 Frequent (79-30%)
15 subcutaneous hemorrhage 58 Frequent (79-30%)
16 cerebral hemorrhage 31 HP:0001342
17 disseminated intravascular coagulation 31 HP:0005521
18 hypercoagulability 31 HP:0100724
19 cerebral venous thrombosis 31 HP:0005305
20 reduced protein s activity 31 HP:0004855
21 superficial thrombophlebitis 31 HP:0002638

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
blindness
retinal thrombosis
impaired retinal vasculogenesis

Cardiovascular Vascular:
arterial thrombosis
cerebral venous thrombosis
superficial thrombophlebitis
mesenteric thrombosis
venous thrombosis, recurrent
more
Skin Nails Hair Skin:
neonatal purpura fulminans
skin necrosis

Respiratory Lung:
pulmonary embolism

Laboratory Abnormalities:
disseminated intravascular coagulation
absent/reduced free proteins and absent total protein s

Clinical features from OMIM®:

614514 (Updated 05-Apr-2021)

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

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

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

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

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

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

Publications for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

(show top 50) (show all 55)
# Title Authors PMID Year
1
Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene. 6 57
20484936 2010
2
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency. 6 57
10063989 1999
3
Homozygous protein S deficiency in an infant with purpura fulminans. 6 57
2231208 1990
4
Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China. 6
30669159 2019
5
Protein S K196E mutation reduces its cofactor activity for APC but not for TFPI. 6
30349894 2018
6
Distinctive regional-specific PROS1 mutation spectrum in Southern China. 6
29748776 2018
7
Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review. 6
29321366 2017
8
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism. 6
27748013 2017
9
Recurrent Hemorrhagic Venous Infarctions Caused by Thrombosis of a Pontine Developmental Venous Anomaly and Protein S Mutation. 6
27660039 2016
10
Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans. 6
27652279 2016
11
[Pedigree survey in a family with hereditary protein S deficiency]. 6
27667277 2016
12
PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency. 6
26466767 2016
13
Common genetic risk factors of venous thromboembolism in Western and Asian populations. 6
26985940 2016
14
Exacerbated venous thromboembolism in mice carrying a protein S K196E mutation. 6
26251307 2015
15
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. 6
26046366 2015
16
Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians. 6
24233386 2014
17
Molecular basis of protein S deficiency in China. 6
23813890 2013
18
Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients. 6
22951146 2013
19
Genotype and laboratory and clinical phenotypes of protein s deficiency. 6
22261441 2012
20
Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum. 6
21811774 2011
21
Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group. 6
21486865 2011
22
[Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case]. 6
21764702 2011
23
Mesenteric venous thrombosis in a child with type 2 protein S deficiency. 6
21285903 2011
24
Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation. 6
21172841 2010
25
Protein S inherited qualitative deficiency: novel mutations and phenotypic influence. 6
20880255 2010
26
The association of protein S Tokushima-K196E with a risk of deep vein thrombosis. 6
20811787 2010
27
Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency. 6
19826897 2009
28
Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. 6
18954896 2009
29
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations. 6
18435454 2008
30
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency. 6
18322254 2008
31
Association of protein S p.Pro667Pro dimorphism with plasma protein S levels in normal individuals and patients with inherited protein S deficiency. 6
17157360 2007
32
In vitro characterization of missense mutations associated with quantitative protein S deficiency. 6
16961607 2006
33
Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. 6
16961608 2006
34
Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. 6
16461766 2006
35
Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. 6
15978566 2005
36
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. 6
15712227 2005
37
Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. 6
15238143 2004
38
Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency. 6
12351389 2002
39
LEAFY and the evolution of rosette flowering in violet cress (Jonopsidium acaule, Brassicaceae). 6
10811787 2000
40
Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants. 6
10790208 2000
41
Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency. 57
10442899 1999
42
A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I. 6
10456456 1999
43
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. 6
10447256 1999
44
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
45
Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. 6
9241758 1997
46
Visual fields measured with double-arc perimetry in eyes with threshold retinopathy of prematurity from the cryotherapy for retinopathy of prematurity trial. The CRYO-Retinopathy of Prematurity Cooperative Group. 6
8841302 1996
47
Protein S deficiency type I: identification of point mutations in 9 of 10 families. 6
7579449 1995
48
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. 6
7545463 1995
49
[Venous thromboembolic disease in children related to transient protein S deficiency following varicella]. 57
7899424 1995
50
Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. 6
7803790 1995

Variations for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

6 (show top 50) (show all 183)
# 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 PROS1, 1-BP INS, 146A Insertion Pathogenic 29847 GRCh37:
GRCh38:
9 PROS1 PROS1, ARG410TER Variation Pathogenic 29848 GRCh37:
GRCh38:
10 PROS1 NM_000313.3(PROS1):c.701A>G (p.Tyr234Cys) SNV Pathogenic 29849 rs387906675 GRCh37: 3:93619674-93619674
GRCh38: 3:93900830-93900830
11 PROS1 NM_000313.3(PROS1):c.967delinsGG (p.Phe323fs) Indel Pathogenic 216868 rs863224838 GRCh37: 3:93611965-93611965
GRCh38: 3:93893121-93893121
12 PROS1 NC_000003.12:g.(?_93879163)_(93879314_?)del Deletion Pathogenic 417527 GRCh37: 3:93598007-93598158
GRCh38: 3:93879163-93879314
13 overlap with 3 genes NC_000003.12:g.(?_93874239)_(94053268_?)del Deletion Pathogenic 472995 GRCh37: 3:93593083-93772112
GRCh38: 3:93874239-94053268
14 PROS1 NM_000313.3(PROS1):c.252del (p.Lys84fs) Deletion Pathogenic 570367 rs1241365457 GRCh37: 3:93643091-93643091
GRCh38: 3:93924247-93924247
15 PROS1 NC_000003.12:g.(?_93924230)_(93973939_?)del Deletion Pathogenic 831813 GRCh37: 3:93643074-93692783
GRCh38:
16 PROS1 NC_000003.12:g.(?_93879153)_(93879331_?)del Deletion Pathogenic 832790 GRCh37: 3:93597997-93598175
GRCh38:
17 PROS1 NM_000313.4(PROS1):c.470-2A>T SNV Pathogenic 848002 GRCh37: 3:93624761-93624761
GRCh38: 3:93905917-93905917
18 PROS1 NM_000313.3(PROS1):c.586A>G (p.Lys196Glu) SNV Pathogenic 13318 rs121918474 GRCh37: 3:93624643-93624643
GRCh38: 3:93905799-93905799
19 PROS1 NM_000313.4(PROS1):c.1919T>C (p.Met640Thr) SNV Pathogenic 941623 GRCh37: 3:93593201-93593201
GRCh38: 3:93874357-93874357
20 PROS1 NM_000313.4(PROS1):c.581C>A (p.Ser194Ter) SNV Pathogenic 959936 GRCh37: 3:93624648-93624648
GRCh38: 3:93905804-93905804
21 PROS1 NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter) SNV Pathogenic 963334 GRCh37: 3:93611783-93611783
GRCh38: 3:93892939-93892939
22 PROS1 NM_000313.3(PROS1):c.1063C>T (p.Arg355Cys) SNV Pathogenic 29846 rs387906674 GRCh37: 3:93611869-93611869
GRCh38: 3:93893025-93893025
23 PROS1 NM_000313.3(PROS1):c.1681C>G (p.Arg561Gly) SNV Pathogenic 13323 rs121918476 GRCh37: 3:93595999-93595999
GRCh38: 3:93877155-93877155
24 PROS1 NM_000313.3(PROS1):c.1351C>T (p.Arg451Ter) SNV Pathogenic 503726 rs5017717 GRCh37: 3:93603713-93603713
GRCh38: 3:93884869-93884869
25 PROS1 NM_000313.3(PROS1):c.1680T>A (p.Tyr560Ter) SNV Pathogenic 627172 rs199469503 GRCh37: 3:93596000-93596000
GRCh38: 3:93877156-93877156
26 PROS1 NM_000313.3(PROS1):c.77-1G>C SNV Pathogenic 581502 rs759677822 GRCh37: 3:93646252-93646252
GRCh38: 3:93927408-93927408
27 PROS1 NM_000313.3(PROS1):c.77-1G>C SNV Pathogenic 581502 rs759677822 GRCh37: 3:93646252-93646252
GRCh38: 3:93927408-93927408
28 PROS1 NM_000313.4(PROS1):c.1323_1323+1del Deletion Likely pathogenic 959346 GRCh37: 3:93605179-93605180
GRCh38: 3:93886335-93886336
29 PROS1 NM_000313.3(PROS1):c.233C>T (p.Thr78Met) SNV Likely pathogenic 215991 rs6122 GRCh37: 3:93646095-93646095
GRCh38: 3:93927251-93927251
30 PROS1 NM_000313.4(PROS1):c.235-1G>A SNV Likely pathogenic 945846 GRCh37: 3:93643109-93643109
GRCh38: 3:93924265-93924265
31 PROS1 NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) SNV Likely pathogenic 945955 GRCh37: 3:93646128-93646128
GRCh38: 3:93927284-93927284
32 PROS1 NM_000313.4(PROS1):c.1064G>A (p.Arg355His) SNV Likely pathogenic 956390 GRCh37: 3:93611868-93611868
GRCh38: 3:93893024-93893024
33 PROS1 NM_000313.4(PROS1):c.601+1G>A SNV Likely pathogenic 835217 GRCh37: 3:93624627-93624627
GRCh38: 3:93905783-93905783
34 PROS1 NM_000313.3(PROS1):c.1998T>A (p.Cys666Ter) SNV Likely pathogenic 567962 rs1559926604 GRCh37: 3:93593122-93593122
GRCh38: 3:93874278-93874278
35 PROS1 NM_000313.4(PROS1):c.766T>A (p.Cys256Ser) SNV Likely pathogenic 812150 rs1576182848 GRCh37: 3:93617375-93617375
GRCh38: 3:93898531-93898531
36 PROS1 NM_000313.4(PROS1):c.728-1G>A SNV Likely pathogenic 162509 rs368074804 GRCh37: 3:93617414-93617414
GRCh38: 3:93898570-93898570
37 PROS1 NM_000313.3(PROS1):c.76+7A>G SNV Conflicting interpretations of pathogenicity 215729 rs201928951 GRCh37: 3:93692511-93692511
GRCh38: 3:93973667-93973667
38 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
39 PROS1 NM_000313.3(PROS1):c.227C>T (p.Pro76Leu) SNV Uncertain significance 540211 rs73846070 GRCh37: 3:93646101-93646101
GRCh38: 3:93927257-93927257
40 PROS1 NM_000313.3(PROS1):c.1816G>A (p.Val606Ile) SNV Uncertain significance 220400 rs371885410 GRCh37: 3:93595864-93595864
GRCh38: 3:93877020-93877020
41 PROS1 NM_000313.4(PROS1):c.1727A>T (p.Glu576Val) SNV Uncertain significance 1037863 GRCh37: 3:93595953-93595953
GRCh38: 3:93877109-93877109
42 PROS1 NM_000313.4(PROS1):c.538G>A (p.Gly180Arg) SNV Uncertain significance 1047585 GRCh37: 3:93624691-93624691
GRCh38: 3:93905847-93905847
43 PROS1 NM_000313.4(PROS1):c.512G>C (p.Cys171Ser) SNV Uncertain significance 999439 GRCh37: 3:93624717-93624717
GRCh38: 3:93905873-93905873
44 PROS1 NM_000313.4(PROS1):c.119G>A (p.Arg40His) SNV Uncertain significance 1002628 GRCh37: 3:93646209-93646209
GRCh38: 3:93927365-93927365
45 PROS1 NM_000313.4(PROS1):c.1871-14T>G SNV Uncertain significance 801989 rs754929347 GRCh37: 3:93593263-93593263
GRCh38: 3:93874419-93874419
46 PROS1 NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) SNV Uncertain significance 859291 GRCh37: 3:93619687-93619687
GRCh38: 3:93900843-93900843
47 PROS1 NM_000313.4(PROS1):c.1564G>A (p.Val522Ile) SNV Uncertain significance 1015333 GRCh37: 3:93598087-93598087
GRCh38: 3:93879243-93879243
48 PROS1 NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) SNV Uncertain significance 1017210 GRCh37: 3:93593139-93593139
GRCh38: 3:93874295-93874295
49 PROS1 NM_000313.4(PROS1):c.566G>A (p.Gly189Asp) SNV Uncertain significance 1017349 GRCh37: 3:93624663-93624663
GRCh38: 3:93905819-93905819
50 PROS1 NM_000313.3(PROS1):c.148A>G (p.Lys50Glu) SNV Uncertain significance 627000 rs748630360 GRCh37: 3:93646180-93646180
GRCh38: 3:93927336-93927336

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

72
# Symbol AA change Variation ID SNP ID
1 PROS1 p.Tyr234Cys VAR_067302 rs387906675

Expression for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

Pathways for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

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

Sources for Thrombophilia Due to Protein S Deficiency, Autosomal Recessive

3 CDC
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