MCID: IDP092
MIFTS: 41

Idiopathic/heritable Pulmonary Arterial Hypertension

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards integrated aliases for Idiopathic/heritable Pulmonary Arterial Hypertension:

Name: Idiopathic/heritable Pulmonary Arterial Hypertension 58
Idiopathic and/or Familial Pulmonary Arterial Hypertension 58 6

Characteristics:

Orphanet epidemiological data:

58
idiopathic/heritable pulmonary arterial hypertension
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (France),1-9/100000 (Czech Republic),1-9/1000000 (Czech Republic),1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare respiratory diseases


Summaries for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards based summary : Idiopathic/heritable Pulmonary Arterial Hypertension, also known as idiopathic and/or familial pulmonary arterial hypertension, is related to pulmonary hypertension, primary, 1 and heritable pulmonary arterial hypertension. An important gene associated with Idiopathic/heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are nNOS Signaling in Skeletal Muscle and Wnt / Hedgehog / Notch. Affiliated tissues include heart, and related phenotypes are pulmonary arterial hypertension and dyspnea

Related Diseases for Idiopathic/heritable Pulmonary Arterial Hypertension

Diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 29.3 NOP58 KCNK3 ENG BMPR2 ACVRL1
2 heritable pulmonary arterial hypertension 29.2 SMAD9 KCNK3 ENG CAV1 BMPR2 ACVRL1
3 pulmonary hypertension 27.7 SMAD9 NOP58 KCNK3 FOXF1 ENG CAV1
4 tricuspid valve insufficiency 10.0 BMPR2 ACVRL1
5 mixed connective tissue disease 10.0 BMPR2 ACVRL1
6 brachydactyly, type a2 10.0 BMPR2 ACVRL1
7 pulmonary arteriovenous malformation 10.0 ENG ACVRL1
8 telangiectasia, hereditary hemorrhagic, type 2 10.0 ENG ACVRL1
9 weber syndrome 10.0 ENG ACVRL1
10 angiodysplasia 10.0 ENG ACVRL1
11 pulmonary valve insufficiency 9.9 KCNK3 BMPR2 ACVRL1
12 arteriovenous malformations of the brain 9.9 ENG ACVRL1
13 cardiovascular organ benign neoplasm 9.9 ENG ACVRL1
14 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 9.9 ENG BMPR2 ACVRL1
15 hereditary hemorrhagic telangiectasia 9.8 ENG BMPR2 ACVRL1
16 chronic pulmonary heart disease 9.8 SMAD9 BMPR2 ACVRL1
17 hepatopulmonary syndrome 9.8 ENG BMPR2 ACVRL1
18 telangiectasis 9.8 ENG BMPR2 ACVRL1
19 arteriovenous malformation 9.8 ENG BMPR2 ACVRL1
20 juvenile polyposis syndrome 9.8 SMAD9 BMPR2 ACVRL1
21 persistent fetal circulation syndrome 9.7 FOXF1 ENG BMPR2
22 pulmonary arterial hypertension associated with congenital heart disease 9.5 SMAD9 ENG CAV1 BMPR2
23 vascular disease 9.5 ENG BMPR2 ACVRL1
24 hypertension, essential 9.4 KCNK3 ENG CAV1 BMPR2
25 pulmonary venoocclusive disease 9.1 SMAD9 KCNK3 ENG CAV1 BMPR2 ACVRL1

Graphical network of the top 20 diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension:



Diseases related to Idiopathic/heritable Pulmonary Arterial Hypertension

Symptoms & Phenotypes for Idiopathic/heritable Pulmonary Arterial Hypertension

Human phenotypes related to Idiopathic/heritable Pulmonary Arterial Hypertension:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary arterial hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002092
2 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
3 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
4 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
5 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
6 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
7 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
8 heart murmur 58 31 occasional (7.5%) Occasional (29-5%) HP:0030148
9 palpitations 58 31 occasional (7.5%) Occasional (29-5%) HP:0001962
10 elevated jugular venous pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0030848
11 right ventricular dilatation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005133
12 pedal edema 58 31 very rare (1%) Very rare (<4-1%) HP:0010741
13 abnormality of cardiovascular system physiology 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Idiopathic/heritable Pulmonary Arterial Hypertension:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ACVRL1 BMPR2 CAV1 ENG FOXF1 KCNK3
2 muscle MP:0005369 9.63 ACVRL1 BMPR2 CAV1 ENG FOXF1 SMAD9
3 normal MP:0002873 9.35 ACVRL1 BMPR2 ENG KCNK3 SMAD9
4 respiratory system MP:0005388 9.17 ACVRL1 BMPR2 CAV1 ENG FOXF1 KCNK3

Drugs & Therapeutics for Idiopathic/heritable Pulmonary Arterial Hypertension

Search Clinical Trials , NIH Clinical Center for Idiopathic/heritable Pulmonary Arterial Hypertension

Genetic Tests for Idiopathic/heritable Pulmonary Arterial Hypertension

Anatomical Context for Idiopathic/heritable Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Idiopathic/heritable Pulmonary Arterial Hypertension:

40
Heart

Publications for Idiopathic/heritable Pulmonary Arterial Hypertension

Articles related to Idiopathic/heritable Pulmonary Arterial Hypertension:

(show all 23)
# Title Authors PMID Year
1
A novel channelopathy in pulmonary arterial hypertension. 6
23883380 2013
2
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 6
22474227 2012
3
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 6
21920918 2011
4
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. 6
21898662 2011
5
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 6
19211612 2009
6
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. 6
16429403 2006
7
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 6
15965979 2005
8
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. 6
12446270 2003
9
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 6
12358323 2002
10
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 6
11115378 2001
11
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 6
11015450 2000
12
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 6
10903931 2000
13
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 6
10973254 2000
14
The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. 6
3291115 1988
15
Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension: extended study results. 61
32290885 2020
16
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. 61
29548663 2018
17
Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension. 61
29233198 2018
18
Clinical phenotypes and outcomes of pulmonary hypertension due to left heart disease: Role of the pre-capillary component. 61
29920539 2018
19
Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension. 61
28267959 2017
20
Combining bosentan and sildenafil in pulmonary arterial hypertension patients failing monotherapy: real-world insights. 61
26022952 2015
21
Long-term patient survival with idiopathic/heritable pulmonary arterial hypertension treated at a single center in Japan. 61
24530872 2014
22
Treatment of idiopathic/hereditary pulmonary arterial hypertension. 61
25082294 2014
23
STARTS-2: long-term survival with oral sildenafil monotherapy in treatment-naive pediatric pulmonary arterial hypertension. 61
24637559 2014

Variations for Idiopathic/heritable Pulmonary Arterial Hypertension

ClinVar genetic disease variations for Idiopathic/heritable Pulmonary Arterial Hypertension:

6 (show top 50) (show all 743)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAV1 NM_001753.5(CAV1):c.474del (p.Leu159fs) Deletion Pathogenic 56967 rs587777017 7:116199278-116199278 7:116559224-116559224
2 CAV1 NM_001753.5(CAV1):c.473del (p.Pro158fs) Deletion Pathogenic 56968 rs879255566 7:116199275-116199275 7:116559221-116559221
3 SMAD9 NM_001127217.2(SMAD9):c.880C>T (p.Arg294Ter) SNV Pathogenic 56970 rs397514716 13:37439797-37439797 13:36865660-36865660
4 KCNK3 NM_002246.3(KCNK3):c.289G>A (p.Gly97Arg) SNV Pathogenic 60480 rs398123040 2:26950540-26950540 2:26727672-26727672
5 KCNK3 NM_002246.3(KCNK3):c.661G>C (p.Val221Leu) SNV Pathogenic 60481 rs398123041 2:26950912-26950912 2:26728044-26728044
6 KCNK3 NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys) SNV Pathogenic 60482 rs398123042 2:26950795-26950795 2:26727927-26727927
7 KCNK3 NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys) SNV Pathogenic 60483 rs398123043 2:26950826-26950826 2:26727958-26727958
8 KCNK3 NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys) SNV Pathogenic 426049 rs1085307438 2:26915766-26915766 2:26692898-26692898
9 SMAD9 NM_005905.6(SMAD9):c.606C>A (p.Cys202Ter) SNV Pathogenic 6515 rs121918359 13:37446859-37446859 13:36872722-36872722
10 SMAD9 NM_005905.6(SMAD9):c.127A>G (p.Lys43Glu) SNV Pathogenic 56969 rs397514715 13:37453700-37453700 13:36879563-36879563
11 CAV1 NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs) Indel Pathogenic 128609 rs587780295 7:116199205-116199206 7:116559151-116559152
12 BMPR2 NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) SNV Pathogenic 8797 rs137852742 2:203329673-203329673 2:202464950-202464950
13 BMPR2 NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) SNV Pathogenic 8799 rs137852743 2:203332348-203332348 2:202467625-202467625
14 BMPR2 NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) SNV Pathogenic 8800 rs137852744 2:203395589-203395589 2:202530866-202530866
15 BMPR2 NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) SNV Pathogenic 8801 rs137852745 2:203417479-203417479 2:202552756-202552756
16 BMPR2 NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) SNV Pathogenic 8802 rs137852746 2:203417496-203417496 2:202552773-202552773
17 BMPR2 BMPR2, 5-BP DEL, NT1099 Deletion Pathogenic 8803
18 BMPR2 NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter) SNV Pathogenic 8804 rs137852747 2:203378530-203378530 2:202513807-202513807
19 BMPR2 NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) SNV Pathogenic 8805 rs137852748 2:203421005-203421005 2:202556282-202556282
20 BMPR2 NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) SNV Pathogenic 8806 rs137852749 2:203417497-203417497 2:202552774-202552774
21 BMPR2 BMPR2, 2-BP DEL, 1-BP INS, NT690 Indel Pathogenic 8807
22 BMPR2 NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) SNV Pathogenic 8808 rs137852750 2:203332361-203332361 2:202467638-202467638
23 BMPR2 NM_001204.7(BMPR2):c.367T>A (p.Cys123Ser) SNV Pathogenic 8809 rs137852750 2:203332361-203332361 2:202467638-202467638
24 BMPR2 NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) SNV Pathogenic 8810 rs137852751 2:203395543-203395543 2:202530820-202530820
25 BMPR2 NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro) SNV Pathogenic 8811 rs137852752 2:203421084-203421084 2:202556361-202556361
26 BMPR2 NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) SNV Pathogenic 8812 rs137852753 2:203383554-203383554 2:202518831-202518831
27 BMPR2 BMPR2, EX10DEL Deletion Pathogenic 8817
28 BMPR2 BMPR2, EX1-13DEL Deletion Pathogenic 8818
29 KCNK3 NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp) SNV Pathogenic 60479 rs398123039 2:26950859-26950859 2:26727991-26727991
30 FOXF1 NM_001451.2(FOXF1):c.(?_15)_(*58_?)del Deletion Pathogenic 228348 16:86544190-86546749 16:86510584-86513143
31 BMPR2 NM_001204.7(BMPR2):c.1125_1128+16del Deletion Pathogenic 238628 rs878854272 2:203395674-203395693 2:202530951-202530970
32 BMPR2 NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del) Deletion Pathogenic 264652 rs886039221 2:203417466-203417468 2:202552743-202552745
33 BMPR2 NM_001204.7(BMPR2):c.853-2A>G SNV Pathogenic 212815 rs863223424 2:203384808-203384808 2:202520085-202520085
34 BMPR2 NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) SNV Pathogenic 264650 rs886039219 2:203242213-203242213 2:202377490-202377490
35 BMPR2 NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) SNV Pathogenic 264653 rs886039222 2:203417494-203417494 2:202552771-202552771
36 BMPR2 NM_001204.7(BMPR2):c.172_173AT[3] (p.Leu59fs) Microsatellite Pathogenic 264655 rs886039223 2:203329626-203329627 2:202464903-202464904
37 KCNK3 NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp) SNV Pathogenic 60479 rs398123039 2:26950859-26950859 2:26727991-26727991
38 BMPR2 NM_001204.7(BMPR2):c.1277-10_1277-9insGGG Insertion Pathogenic 264651 rs886039220 2:203407024-203407025 2:202542301-202542302
39 CAV1 NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) Deletion Pathogenic 208669 rs797044871 7:116199282-116199283 7:116559228-116559229
40 BMPR2 NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) SNV Pathogenic 222513 rs869025366 2:203378462-203378462 2:202513739-202513739
41 BMPR2 NM_001204.7(BMPR2):c.247+2del Deletion Pathogenic 425732 rs1085307190 2:203329704-203329704 2:202464981-202464981
42 BMPR2 NM_001204.6(BMPR2):c.1277-289_1413+4737del Deletion Pathogenic 425915 2:203406745-203411907 2:202542022-202547184
43 BMPR2 NM_001204.7(BMPR2):c.937G>C (p.Ala313Pro) SNV Pathogenic 425845 rs1085307275 2:203384894-203384894 2:202520171-202520171
44 BMPR2 NM_001204.6(BMPR2):c.622-?_852+?del Deletion Pathogenic 425808
45 BMPR2 NM_001204.7(BMPR2):c.2519_2520CA[3] (p.Arg842fs) Microsatellite Pathogenic 425993 rs1085307392 2:203420905-203420906 2:202556182-202556183
46 BMPR2 NM_001204.7(BMPR2):c.992A>G (p.His331Arg) SNV Pathogenic 425860 rs1085307285 2:203395541-203395541 2:202530818-202530818
47 BMPR2 NM_001204.7(BMPR2):c.2286del (p.Asn764fs) Deletion Pathogenic 425976 rs1085307376 2:203420673-203420673 2:202555950-202555950
48 BMPR2 NM_001204.7(BMPR2):c.77-35_86del Deletion Pathogenic 425691 rs1085307158 2:203329496-203329540 2:202464773-202464817
49 BMPR2 NM_001204.7(BMPR2):c.2503_2506del (p.Thr835fs) Deletion Pathogenic 425990 rs1085307389 2:203420888-203420891 2:202556165-202556168
50 BMPR2 NM_001204.7(BMPR2):c.2009del (p.Pro670fs) Deletion Pathogenic 425973 rs1085307373 2:203420395-203420395 2:202555672-202555672

Expression for Idiopathic/heritable Pulmonary Arterial Hypertension

Search GEO for disease gene expression data for Idiopathic/heritable Pulmonary Arterial Hypertension.

Pathways for Idiopathic/heritable Pulmonary Arterial Hypertension

Pathways related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 SMAD9 BMPR2 ACVRL1
2 11.69 SMAD9 ENG BMPR2
3
Show member pathways
11.29 SMAD9 BMPR2
4 11.13 SMAD9 ENG
5 11.11 SMAD9 ENG ACVRL1
6 10.66 SMAD9 BMPR2
7
Show member pathways
10.36 SMAD9 CAV1 BMPR2 ACVRL1
8 10.2 SMAD9 BMPR2

GO Terms for Idiopathic/heritable Pulmonary Arterial Hypertension

Cellular components related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 8.96 CAV1 BMPR2
2 receptor complex GO:0043235 8.8 ENG BMPR2 ACVRL1

Biological processes related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 FOXF1 ENG BMPR2 ACVRL1
2 angiogenesis GO:0001525 9.79 ENG CAV1 ACVRL1
3 heart development GO:0007507 9.79 FOXF1 ENG ACVRL1
4 response to hypoxia GO:0001666 9.77 ENG CAV1 ACVRL1
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.7 SMAD9 ENG ACVRL1
6 cellular response to starvation GO:0009267 9.65 CAV1 BMPR2
7 positive regulation of endothelial cell proliferation GO:0001938 9.65 BMPR2 ACVRL1
8 cellular response to growth factor stimulus GO:0071363 9.64 BMPR2 ACVRL1
9 cellular response to transforming growth factor beta stimulus GO:0071560 9.64 CAV1 ACVRL1
10 blood vessel development GO:0001568 9.63 FOXF1 BMPR2
11 lung alveolus development GO:0048286 9.63 FOXF1 BMPR2
12 blood vessel remodeling GO:0001974 9.62 BMPR2 ACVRL1
13 outflow tract septum morphogenesis GO:0003148 9.61 ENG BMPR2
14 vasculogenesis GO:0001570 9.61 FOXF1 ENG CAV1
15 activin receptor signaling pathway GO:0032924 9.59 BMPR2 ACVRL1
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 BMPR2 ACVRL1
17 endocardial cushion morphogenesis GO:0003203 9.58 ENG ACVRL1
18 negative regulation of nitric-oxide synthase activity GO:0051001 9.57 ENG CAV1
19 negative regulation of DNA biosynthetic process GO:2000279 9.56 BMPR2 ACVRL1
20 lymphangiogenesis GO:0001946 9.55 BMPR2 ACVRL1
21 endocardial cushion development GO:0003197 9.54 FOXF1 BMPR2
22 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.54 ENG BMPR2 ACVRL1
23 artery development GO:0060840 9.51 BMPR2 ACVRL1
24 negative regulation of endothelial cell proliferation GO:0001937 9.5 ENG CAV1 ACVRL1
25 retina vasculature development in camera-type eye GO:0061298 9.49 BMPR2 ACVRL1
26 dorsal aorta morphogenesis GO:0035912 9.48 ENG ACVRL1
27 lymphatic endothelial cell differentiation GO:0060836 9.46 BMPR2 ACVRL1
28 cellular response to BMP stimulus GO:0071773 9.43 SMAD9 BMPR2 ACVRL1
29 endocardial cushion to mesenchymal transition GO:0090500 9.4 ENG ACVRL1
30 positive regulation of BMP signaling pathway GO:0030513 9.33 ENG BMPR2 ACVRL1
31 BMP signaling pathway GO:0030509 9.26 SMAD9 ENG BMPR2 ACVRL1
32 venous blood vessel development GO:0060841 8.8 FOXF1 BMPR2 ACVRL1

Molecular functions related to Idiopathic/heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.37 ENG ACVRL1
2 activin binding GO:0048185 9.32 ENG ACVRL1
3 BMP binding GO:0036122 9.26 ENG BMPR2
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 BMPR2 ACVRL1
5 BMP receptor activity GO:0098821 8.96 BMPR2 ACVRL1
6 transforming growth factor beta-activated receptor activity GO:0005024 8.8 ENG BMPR2 ACVRL1

Sources for Idiopathic/heritable Pulmonary Arterial Hypertension

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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