MCID: HYP620
MIFTS: 56

Hypoprothrombinemia

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hypoprothrombinemia

MalaCards integrated aliases for Hypoprothrombinemia:

Name: Hypoprothrombinemia 54 12 24 25 56 71
Dysprothrombinemia 54 24 25 56 71 13 52
Prothrombin Deficiency 12 24 25 56 71 14
Factor Ii Deficiency 12 25 71 69
Hypoprothrombinemias 52 42
Hereditary Factor Ii Deficiency Disease 69
Prothrombin Deficiency, Congenital 29
Congenital Factor Ii Deficiency 56
Inherited Factor Ii Deficiency 69
Factor 2 Deficiency 50
Fa2d 71

Characteristics:

Orphanet epidemiological data:

56
congenital factor ii deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
prevalence of true hypoprothrombinemia is 1 in 2 million
bleeding after trauma or surgery
some heterozygous carriers may have mild manifestations


HPO:

32
hypoprothrombinemia:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613679
Disease Ontology 12 DOID:2235
MeSH 42 D007020
Orphanet 56 ORPHA325
UMLS via Orphanet 70 C0020640 C3203356 C0272317
ICD10 via Orphanet 34 D68.2
UMLS 69 C0020640

Summaries for Hypoprothrombinemia

OMIM : 54
Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009). (613679)

MalaCards based summary : Hypoprothrombinemia, also known as dysprothrombinemia, is related to factor v deficiency and acquired hypoprothrombinemia, and has symptoms including epistaxis, menorrhagia and prolonged bleeding time. An important gene associated with Hypoprothrombinemia is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Warfarin and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are cardiovascular system and homeostasis/metabolism

Genetics Home Reference : 25 Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.

UniProtKB/Swiss-Prot : 71 Factor II deficiency: A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels.

Wikipedia : 72 Hypoprothrombinemia is a blood disorder in which a deficiency of prothrombin (Factor II) results in... more...

Related Diseases for Hypoprothrombinemia

Diseases in the Hypoprothrombinemia family:

Acquired Hypoprothrombinemia

Diseases related to Hypoprothrombinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
id Related Disease Score Top Affiliating Genes
1 factor v deficiency 28.2 F2 F3 F5 F7 F8 F9
2 acquired hypoprothrombinemia 12.0
3 variably protease-sensitive prionopathy 10.8 F2 F5
4 mcgillivray syndrome 10.8 APOH F5
5 landau-kleffner syndrome 10.8 APOH F2
6 accessory deep peroneal nerve 10.7 APOH F5
7 bile duct cystadenoma 10.7 F2 F5
8 egg allergy 10.7 F2 SERPINC1
9 pregnancy loss, recurrent 1 10.7 APOH F5
10 syndactyly, mesoaxial synostotic, with phalangeal reduction 10.7 F2 SERPINC1
11 prostatitis 10.7 APOH F2
12 stoll alembik finck syndrome 10.7 F5 SERPINC1
13 hyperthyroidism 10.7 F2 F3
14 littre gland carcinoma 10.7 F2 SERPINC1
15 primary pigmented nodular adrenocortical disease 10.7 F2 F5
16 pilomyxoid astrocytoma 10.7 F2 SERPINC1
17 non-dystrophic myotonic disorders 10.6 F3 TPMT
18 inferolateral myocardial infarct 10.6 F2 SERPINC1
19 brain stem glioma 10.6 F2 F3
20 sagittal sinus thrombosis 10.6 F3 SERPINC1
21 sporotrichosis 10.6 F2 F3
22 chronic inflammatory demyelinating polyneuritis 10.6 F2 F3
23 angelucci's syndrome 10.6 F2 SERPINC1
24 porphyria 10.6 F2 F7
25 elejalde disease 10.6 APOH F2
26 lockwood feingold syndrome 10.6 APOH F2 F5
27 chronic diarrhea due to guanylate cyclase 2c overactivity 10.6 F3 SERPINC1
28 superior limbic keratoconjunctivitis 10.5 F2 F5 SERPINC1
29 follicular adenoma 10.5 F2 F5 SERPINC1
30 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.5 F10 F5
31 dyskeratosis congenita autosomal recessive 10.5 F2 F5 SERPINC1
32 irak4 deficiency 10.5 F10 F2 F5
33 homologous wasting disease 10.5 F2 F5
34 optic nerve neoplasm 10.5 F10 F3
35 ischemic heart disease 10.5 APOH F2 SERPINC1
36 mental retardation dysmorphism hypogonadism diabetes 10.5 F5 SERPINC1
37 stickler sydrome, type i, nonsyndromic ocular 10.5 APOH F5 SERPINC1
38 bronchopulmonary dysplasia 10.5 APOH F8
39 obstructive jaundice 10.5 F2 F5 SERPINC1
40 pyridoxine deficiency anemia 10.5 F2 F3 SERPINC1
41 factor v and factor viii, combined deficiency of 10.5 F5 F8
42 mixed mineral dust pneumoconiosis 10.5 APOH F2 SERPINC1
43 thrombomodulin anomalies, familial 10.5 F2 F3 F5
44 xeroderma pigmentosum, group f 10.5 F9 SERPINC1
45 rectum neuroendocrine neoplasm 10.5 F2 F3 SERPINC1
46 midline cystocele 10.5 F2 F3 SERPINC1
47 exophthalmic ophthalmoplegia 10.5 APOH F5 SERPINC1
48 lymphatic system cancer 10.5 F2 F3 SERPINC1
49 preeclampsia/eclampsia 1 10.5 APOH F5 SERPINC1
50 lethal congenital contracture syndrome 10.5 F2 F3 SERPINC1

Graphical network of the top 20 diseases related to Hypoprothrombinemia:



Diseases related to Hypoprothrombinemia

Symptoms & Phenotypes for Hypoprothrombinemia

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Nose:
epistaxis

Genitourinary- Internal Genitalia Female:
menorrhagia

Head And Neck- Mouth:
gingival bleeding

Muscle Soft Tissue:
hematomas
umbilical cord hemorrhage

Abdomen- Gastroin testinal:
gastrointestinal bleeding

Skin Nails & Hair- Skin:
easy bruising
ecchymosis

Hematology:
prolonged bleeding time
prolonged prothrombin time
bleeding tendency due to defect in prothrombin and inability to form fibrin clot
prolonged activated partial thromboplastin time
decreased f2 antigen levels (in some patients)
more
Skeletal:
hemarthroses

Neurologic- Central Nervous System:
intracranial bleeding


Clinical features from OMIM:

613679

Human phenotypes related to Hypoprothrombinemia:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 menorrhagia 32 HP:0000132
3 prolonged bleeding time 32 HP:0003010
4 gingival bleeding 32 HP:0000225
5 prolonged prothrombin time 32 HP:0008151
6 gastrointestinal hemorrhage 32 HP:0002239
7 prolonged partial thromboplastin time 32 HP:0003645
8 bruising susceptibility 32 HP:0000978
9 joint hemorrhage 32 HP:0005261
10 reduced prothrombin activity 32 HP:0012201

MGI Mouse Phenotypes related to Hypoprothrombinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 F10 F11 F2 F3 F5 F7
2 homeostasis/metabolism MP:0005376 9.73 TFPI TPMT APOH F10 F11 F2
3 mortality/aging MP:0010768 9.4 APOH F10 F11 F2 F3 F5

Drugs & Therapeutics for Hypoprothrombinemia

Drugs for Hypoprothrombinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1, Phase 2 81-81-2 6691 54678486
2 Liver Extracts Phase 2
3 Anticoagulants Phase 1, Phase 2
4 Anti-Bacterial Agents
5 Antibiotics, Antitubercular
6 Anti-Infective Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Phase II, Double-blinded, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Vitalliver in Patients With Decompensated Cirrhosis Completed NCT00562783 Phase 2 Vitaliver;Placebo
2 Randomized Controlled Feasibility Trial of the Fearon Algorithm to Improve Management of Unstable Warfarin Recruiting NCT02267408 Phase 1, Phase 2
3 Antibiotic-associated Coagulopathy Unknown status NCT02172833

Search NIH Clinical Center for Hypoprothrombinemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypoprothrombinemias

Genetic Tests for Hypoprothrombinemia

Genetic tests related to Hypoprothrombinemia:

id Genetic test Affiliating Genes
1 Prothrombin Deficiency, Congenital 29
2 Prothrombin Deficiency 24 F2

Anatomical Context for Hypoprothrombinemia

MalaCards organs/tissues related to Hypoprothrombinemia:

39
Brain, Liver

Publications for Hypoprothrombinemia

Articles related to Hypoprothrombinemia:

(show top 50) (show all 56)
id Title Authors Year
1
Hypoprothrombinemia and severe perioperative haemorrhagic complications in cardiac surgery patients treated with high-dose cefazolin for infective endocarditis. ( 28870850 )
2017
2
Congenital Jejunal Membrane Causing Transient Pseudohypoaldosteronism and Hypoprothrombinemia in a 7-Week-Old Infant. ( 28806843 )
2017
3
Lupus Anticoagulant-hypoprothrombinemia Syndrome (LAC-HPS) in Children With Systemic Lupus Erythematosus: Report of 3 Cases. ( 28787393 )
2017
4
Lupus anticoagulant - hypoprothrombinemia syndrome: a rare cause of intracranial bleeding. ( 28009646 )
2016
5
Lupus anticoagulant hypoprothrombinemia syndrome associated with severe thrombocytopenia in a child. ( 27862892 )
2016
6
Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies. ( 27380476 )
2016
7
Prozone Effect in the Diagnosis of Lupus Anticoagulant for the Lupus Anticoagulant-Hypoprothrombinemia Syndrome. ( 27473743 )
2016
8
Use of Hypoprothrombinemia-Inducing Cephalosporins and the Risk of Hemorrhagic Events: A Nationwide Nested Case-Control Study. ( 27463687 )
2016
9
Lupus anticoagulant-hypoprothrombinemia syndrome presenting with co-existing cerebral venous thrombosis and subdural hemorrhage. ( 27743753 )
2016
10
Role of prophylactic vitamin K in preventing antibiotic induced hypoprothrombinemia. ( 25297643 )
2015
11
Lupus anticoagulant-hypoprothrombinemia syndrome: A rare association in systemic lupus erythematosus. ( 26306946 )
2015
12
Lupus anticoagulant-hypoprothrombinemia syndrome: report of two cases and review of the literature. ( 25391540 )
2015
13
A case of lupus anticoagulant-hypoprothrombinemia syndrome associated with systemic lupus erythematosus. ( 26654379 )
2015
14
Bruised Black and Blue: Acquired Hypoprothrombinemia. ( 26159638 )
2015
15
Lupus anticoagulant acquired hypoprothrombinemia syndrome in childhood: two distinct patterns and review of the literature. ( 25929557 )
2015
16
Activated partial thromboplastin time sensitivity to lupus anticoagulant in a patient with transient arthritis and lupus anticoagulant-hypoprothrombinemia syndrome. ( 25380995 )
2014
17
Pulmonary hemorrhage in pediatric lupus anticoagulant hypoprothrombinemia syndrome. ( 24868219 )
2014
18
Resolution of Hypoprothrombinemia-Lupus Anticoagulant Syndrome (HLAS) after multidrug therapy with rituximab: a case report and review of the literature. ( 22989209 )
2013
19
Cerebral microbleeds in lupus anticoagulant-hypoprothrombinemia syndrome. ( 24081384 )
2013
20
Lupus anticoagulant hypoprothrombinemia syndrome in Bence-Jones protein I_-type multiple myeloma patient with phosphatidylserine-dependent antiprothrombin antibody. ( 23076754 )
2013
21
Lupus anticoagulant-hypoprothrombinemia syndrome: report of 8 cases and review of the literature. ( 22932789 )
2012
22
Acquired hypoprothrombinemia inducing bleeding in a girl with transient antiphospholipid antibody: case report. ( 22435262 )
2012
23
Lupus Anticoagulant-Hypoprothrombinemia syndrome (HLAS): report of one case in a familial infectious context. ( 20006899 )
2010
24
Lupus anticoagulant-hypoprothrombinemia in healthy adult. ( 18787368 )
2008
25
Cefazolin-induced hypoprothrombinemia. ( 18436729 )
2008
26
Control of ovulation-induced hemoperitoneum by oral contraceptives in a patient with congenital hypoprothrombinemia and in another with congenital factor V deficiency. ( 18583905 )
2008
27
Quinidine-induced lupus anticoagulant, hypoprothrombinemia, and antiprothrombin antibodies. ( 16955465 )
2007
28
Steady improvement of prothrombin levels after cyclophosphamide therapy in pediatric lupus anticoagulant hypoprothrombinemia syndrome (LAHPS). ( 17516128 )
2007
29
Pre-operative management of a patient with hypoprothrombinemia-lupus anticoagulant syndrome. ( 17598020 )
2007
30
Thromboembolism complicating the treatment of lupus anticoagulant hypoprothrombinemia syndrome. ( 16924686 )
2006
31
Enhanced hypoprothrombinemia with warfarin due to azithromycin. ( 15084685 )
2004
32
Cefazolin administration and 2-methyl-1,3,4-thiadiazole-5-thiol in human tissue: possible relationship to hypoprothrombinemia. ( 12228189 )
2002
33
Diagnosis of lupus anticoagulant in the lupus anticoagulant-hypoprothrombinemia syndrome: report of two cases and review of the literature. ( 12410576 )
2002
34
Successful treatment of acquired hypoprothrombinemia without associated lupus anticoagulant using intravenous immunoglobulin. ( 11410426 )
2001
35
Cyclooxygenase-2 inhibitor celecoxib: a possible cause of gastropathy and hypoprothrombinemia. ( 11005360 )
2000
36
Acquired hypoprothrombinemia related to high titres of antiprotein-phospholipid antibodies. ( 10064016 )
1999
37
Association of lupus anticoagulant with transient antibodies to prothrombin in a patient with hypoprothrombinemia. ( 9172289 )
1997
38
Hypoprothrombinemia associated with cefmetazole. ( 9034420 )
1997
39
Molecular analysis of a compound heterozygote for hypoprothrombinemia and dysprothrombinemia (-G 7248/7249 and ARG 340 TRP). ( 9351523 )
1997
40
Severe bleeding due to acquired hypoprothrombinemia-lupus anticoagulant syndrome. Case report and review of literature. ( 9234588 )
1997
41
Genetic analysis and functional characterization of prothrombins Corpus Christi (Arg382-Cys), Dhahran (Arg271-His), and hypoprothrombinemia. ( 8839854 )
1996
42
Acquired hypoprothrombinemia: effects of danazol treatment. ( 8948670 )
1996
43
Hypoprothrombinemia in childhood systemic lupus erythematosus. ( 7985033 )
1994
44
Transient lupus anticoagulant associated with hypoprothrombinemia and factor XII deficiency following adenovirus infection. ( 8394145 )
1993
45
Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia. ( 1334372 )
1992
46
Hypoprothrombinemia and hemorrhage in a surgical patient treated with cefotetan. ( 1901205 )
1991
47
Antibiotic-associated hypoprothrombinemia: a review of prospective studies, 1966-1988. ( 2267487 )
1990
48
Severe hemorrhage in a patient with circulating anticoagulant, acquired hypoprothrombinemia, and systemic lupus erythematosus. ( 3139005 )
1988
49
Acquired hypoprothrombinemia due to non-neutralizing antibodies to prothrombin: mechanism and management. ( 3995183 )
1985
50
Cephalosporin-induced hypoprothrombinemia: possible role for thiol methylation of 1-methyltetrazole-5-thiol and 2-methyl-1,3,4-thiadiazole-5-thiol. ( 2865352 )
1985

Variations for Hypoprothrombinemia

UniProtKB/Swiss-Prot genetic disease variations for Hypoprothrombinemia:

71
id Symbol AA change Variation ID SNP ID
1 F2 p.Glu200Lys VAR_006711 rs62623459
2 F2 p.Arg314Cys VAR_006712 rs121918477
3 F2 p.Arg314His VAR_006713 rs754231232
4 F2 p.Met380Thr VAR_006714 rs121918481
5 F2 p.Arg425Cys VAR_006715 rs121918479
6 F2 p.Arg431His VAR_006716 rs121918482
7 F2 p.Arg461Trp VAR_006717 rs121918478
8 F2 p.Glu509Ala VAR_006718
9 F2 p.Gly601Val VAR_006719 rs121918480
10 F2 p.Glu72Gly VAR_055232

ClinVar genetic disease variations for Hypoprothrombinemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 F2 NM_000506.4(F2): c.462_463insT (p.Asn155Terfs) insertion Pathogenic rs387906522 GRCh37 Chromosome 11, 46744971: 46744972
2 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic,risk factor rs1799963 GRCh37 Chromosome 11, 46761055: 46761055
3 F2 F2, TYR44CYS single nucleotide variant Pathogenic

Expression for Hypoprothrombinemia

Search GEO for disease gene expression data for Hypoprothrombinemia.

Pathways for Hypoprothrombinemia

Pathways related to Hypoprothrombinemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 APOH F10 F11 F2 F3 F5
2
Show member pathways
12.58 F10 F11 F2 F3 F5 F7
3 11.8 F10 F11 F2 F3 F5 F7
4
Show member pathways
11.7 F10 F2 F7 F9
5
Show member pathways
11.53 F10 F11 F2 F3 F5 F7
6 10.9 F2 TFPI
7 10.8 F10 F2 F7 F9

GO Terms for Hypoprothrombinemia

Cellular components related to Hypoprothrombinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.7 F10 F2 F5 F7 F8 F9
2 extracellular space GO:0005615 9.7 APOH F11 F2 F3 F5 F7
3 Golgi lumen GO:0005796 9.56 F10 F2 F7 F9
4 ER to Golgi transport vesicle GO:0030134 9.43 F5 F8
5 extracellular region GO:0005576 9.4 APOH F10 F11 F2 F3 F5
6 intrinsic component of external side of plasma membrane GO:0031233 9.37 F10 F3
7 serine-type peptidase complex GO:1905286 9.32 F3 F7
8 plasma membrane GO:0005886 10.14 F10 F11 F2 F3 F5 F7

Biological processes related to Hypoprothrombinemia according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.96 F10 F11 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.85 F10 F2 F5 F7 F8 F9
3 platelet degranulation GO:0002576 9.74 APOH F5 F8
4 regulation of blood coagulation GO:0030193 9.73 APOH F11 F2 SERPINC1
5 positive regulation of protein kinase B signaling GO:0051897 9.71 F10 F3 F7
6 signal peptide processing GO:0006465 9.71 F10 F2 F7 F9
7 blood coagulation, extrinsic pathway GO:0007598 9.65 F10 F3 F7 F9 TFPI
8 blood coagulation GO:0007596 9.65 F10 F11 F2 F3 F5 F7
9 positive regulation of blood coagulation GO:0030194 9.63 APOH F2 F7
10 blood coagulation, intrinsic pathway GO:0007597 9.63 APOH F10 F11 F2 F8 F9
11 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
12 positive regulation of positive chemotaxis GO:0050927 9.55 F3 F7
13 plasminogen activation GO:0031639 9.52 APOH F11
14 negative regulation of fibrinolysis GO:0051918 9.51 APOH F2
15 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F3 F7
16 response to vitamin K GO:0032571 9.48 F5 F7
17 hemostasis GO:0007599 9.32 F10 F11 F2 F3 F5 F7

Molecular functions related to Hypoprothrombinemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.65 F10 F11 F2 F7 F9
2 phospholipid binding GO:0005543 9.5 APOH F10 F3
3 heparin binding GO:0008201 9.46 APOH F11 F2 SERPINC1
4 serine-type peptidase activity GO:0008236 9.35 F10 F11 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.1 F10 F11 F2 F3 F7 F9

Sources for Hypoprothrombinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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