BSVD
MCID: BRN118
MIFTS: 48

Brain Small Vessel Disease with or Without Ocular Anomalies (BSVD)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Brain Small Vessel Disease with or Without Ocular Anomalies

MalaCards integrated aliases for Brain Small Vessel Disease with or Without Ocular Anomalies:

Name: Brain Small Vessel Disease with or Without Ocular Anomalies 57 12 75 73
Brain Small Vessel Disease with Hemorrhage 57 12 75 37 29 6 40 73
Brain Small Vessel Disease with Axenfeld-Rieger Anomaly 57 75 29 13
Col4a1-Related Familial Vascular Leukoencephalopathy 12 59 15
Infantile Hemiparesis 57 12 75
Bsvd 57 12 75
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome 12 59
Col4a1-Related Brain Small Vessel Disease with Hemorrhage 12 59
Leukoencephalopathy with Axenfeld-Rieger Anomaly 57 75
Leukoencephalopathies 44 73
Retinal Hemorrhage 44 73
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant 57
Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukencephalopathy 12
Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis and Leukoencephalopathy 75
Brain Small Vessel Disease with Axenfeld-Riegar Anomaly 12
Leukoencephalopathy with Axenfeld-Riegar Anomaly 12

Characteristics:

Orphanet epidemiological data:

59
col4a1-related familial vascular leukoencephalopathy
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset (range 4 months to 45 years)
a subset of patients may have congenital abnormalities of the ocular anterior segment


HPO:

32
brain small vessel disease with or without ocular anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Brain Small Vessel Disease with or Without Ocular Anomalies

UniProtKB/Swiss-Prot : 75 Brain small vessel disease with or without ocular anomalies: An autosomal dominant disease characterized by weakening of the blood vessels in the brain and retinal arteriolar tortuosity. In affected individuals, stroke is often the first symptom and is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke). Patients also have leukoencephalopathy and may experience seizures and migraine headaches accompanied by visual sensations known as auras.

MalaCards based summary : Brain Small Vessel Disease with or Without Ocular Anomalies, also known as brain small vessel disease with hemorrhage, is related to cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 and schizencephaly. An important gene associated with Brain Small Vessel Disease with or Without Ocular Anomalies is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include brain, eye and endothelial, and related phenotypes are seizures and corneal opacity

Disease Ontology : 12 A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34.

Description from OMIM: 607595

Related Diseases for Brain Small Vessel Disease with or Without Ocular Anomalies

Diseases related to Brain Small Vessel Disease with or Without Ocular Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 461)
# Related Disease Score Top Affiliating Genes
1 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 33.8 COL4A1 TREX1
2 schizencephaly 29.5 COL4A1 SIX3
3 spastic hemiplegia 29.4 COL4A1 SIX3
4 porencephaly 29.4 COL4A1 SIX3
5 hydranencephaly 29.3 COL4A1 SIX3
6 megalencephalic leukoencephalopathy with subcortical cysts 1 12.7
7 progressive multifocal leukoencephalopathy 12.6
8 leukoencephalopathy, hereditary diffuse, with spheroids 12.6
9 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.5
10 leukoencephalopathy with vanishing white matter 12.5
11 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12.5
12 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 12.5
13 rnase t2-deficient leukoencephalopathy 12.5
14 leukoencephalopathy, cystic, without megalencephaly 12.4
15 leukoencephalopathy with ataxia 12.4
16 clcn2-related leukoencephalopathy 12.4
17 leukoencephalopathy with dystonia and motor neuropathy 12.3
18 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 12.3
19 leukoencephalopathy, brain calcifications, and cysts 12.3
20 megalencephalic leukoencephalopathy with subcortical cysts 2a 12.3
21 leukoencephalopathy, progressive, with ovarian failure 12.3
22 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 12.3
23 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 12.3
24 leukoencephalopathy palmoplantar keratoderma 12.2
25 leukoencephalopathy with metaphyseal chondrodysplasia 12.1
26 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema 12.1
27 hypomyelinating leukoencephalopathy 12.1
28 leukoencephalopathy, cerebral calcifications, and cysts 12.0
29 progressive cavitating leukoencephalopathy 12.0
30 pontine autosomal dominant microangiopathy with leukoencephalopathy 12.0
31 combined oxidative phosphorylation deficiency 12 12.0
32 muscular dystrophy, adult-onset, with leukoencephalopathy 11.9
33 csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 11.9
34 familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension 11.9
35 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 11.9
36 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 11.9
37 mitochondrial dna depletion syndrome 1 11.9
38 retinal arteries, tortuosity of 11.8
39 cerebral amyloid angiopathy, app-related 11.7
40 mitochondrial neurogastrointestinal encephalopathy disease 11.6
41 col4a1-related brain small-vessel disease 11.5
42 mitochondrial complex ii deficiency 11.5
43 vasculopathy, retinal, with cerebral leukodystrophy 11.4
44 shaken baby syndrome 11.3
45 panencephalitis, subacute sclerosing 11.2
46 ribose 5-phosphate isomerase deficiency 11.2
47 childhood ataxia with central nervous system hypomyelination/vanishing white matter 11.2
48 mitochondrial complex i deficiency 11.2
49 krabbe disease 11.2
50 metachromatic leukodystrophy 11.1

Comorbidity relations with Brain Small Vessel Disease with or Without Ocular Anomalies via Phenotypic Disease Network (PDN):


Hypertension, Essential Macular Degeneration, Age-Related, 1

Graphical network of the top 20 diseases related to Brain Small Vessel Disease with or Without Ocular Anomalies:



Diseases related to Brain Small Vessel Disease with or Without Ocular Anomalies

Symptoms & Phenotypes for Brain Small Vessel Disease with or Without Ocular Anomalies

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal arteriolar tortuosity
hypopigmentation of the fundus
microcornea (in some patients)
microphthalmia (in some patients)
corectopia (in some patients)
more
Neurologic Central Nervous System:
intellectual disability, mild (in some patients)
seizures (in some patients)
migraine with or without aura
infantile hemiparesis
central facial palsy (in some patients)
more

Clinical features from OMIM:

607595

Human phenotypes related to Brain Small Vessel Disease with or Without Ocular Anomalies:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 corneal opacity 32 occasional (7.5%) HP:0007957
3 intellectual disability, mild 32 occasional (7.5%) HP:0001256
4 strabismus 32 occasional (7.5%) HP:0000486
5 myopia 32 occasional (7.5%) HP:0000545
6 corneal neovascularization 32 occasional (7.5%) HP:0011496
7 microphthalmia 32 occasional (7.5%) HP:0000568
8 glaucoma 32 occasional (7.5%) HP:0000501
9 retinal detachment 32 occasional (7.5%) HP:0000541
10 hypoplasia of the iris 32 occasional (7.5%) HP:0007676
11 retinal arteriolar tortuosity 32 HP:0001136
12 amblyopia 32 occasional (7.5%) HP:0000646
13 hypopigmentation of the fundus 32 HP:0007894
14 blurred vision 32 HP:0000622
15 microcornea 32 occasional (7.5%) HP:0000482
16 astigmatism 32 occasional (7.5%) HP:0000483
17 ectopia pupillae 32 occasional (7.5%) HP:0009918
18 hemiparesis 32 HP:0001269
19 congenital cataract 32 occasional (7.5%) HP:0000519
20 hypermetropia 32 occasional (7.5%) HP:0000540
21 perivascular spaces 32 HP:0012520
22 scotoma 32 HP:0000575
23 porencephalic cyst 32 occasional (7.5%) HP:0002132
24 migraine with aura 32 HP:0002077
25 polycoria 32 occasional (7.5%) HP:0011500
26 peripapillary atrophy 32 very rare (1%) HP:0500087
27 posterior leukoencephalopathy 32 HP:0006859

MGI Mouse Phenotypes related to Brain Small Vessel Disease with or Without Ocular Anomalies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 COL4A1 PURA SIX3 TREX1

Drugs & Therapeutics for Brain Small Vessel Disease with or Without Ocular Anomalies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rehabilitation of Attention in Patients With MCI and Brain Subcortical Vascular Changes Using the APT-II Completed NCT02033850 Not Applicable

Search NIH Clinical Center for Brain Small Vessel Disease with or Without Ocular Anomalies

Cochrane evidence based reviews: retinal hemorrhage

Genetic Tests for Brain Small Vessel Disease with or Without Ocular Anomalies

Genetic tests related to Brain Small Vessel Disease with or Without Ocular Anomalies:

# Genetic test Affiliating Genes
1 Brain Small Vessel Disease with Hemorrhage 29 COL4A1
2 Brain Small Vessel Disease with Axenfeld-Rieger Anomaly 29

Anatomical Context for Brain Small Vessel Disease with or Without Ocular Anomalies

MalaCards organs/tissues related to Brain Small Vessel Disease with or Without Ocular Anomalies:

41
Brain, Eye, Endothelial, Liver, Spinal Cord, T Cells, Myeloid

Publications for Brain Small Vessel Disease with or Without Ocular Anomalies

Articles related to Brain Small Vessel Disease with or Without Ocular Anomalies:

# Title Authors Year
1
Unilateral open-lip schizencephaly: A rare cause of infantile hemiparesis. ( 23560019 )
2012

Variations for Brain Small Vessel Disease with or Without Ocular Anomalies

UniProtKB/Swiss-Prot genetic disease variations for Brain Small Vessel Disease with or Without Ocular Anomalies:

75
# Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly562Glu VAR_030028
2 COL4A1 p.Gly720Asp VAR_064496 rs113994108
3 COL4A1 p.Gly755Arg VAR_064497 rs672601346
4 COL4A1 p.Gly805Arg VAR_064498 rs113994110
5 COL4A1 p.Gly708Arg VAR_073813 rs672601349
6 COL4A1 p.Gly773Arg VAR_073814 rs672601347
7 COL4A1 p.Gly882Asp VAR_073816
8 COL4A1 p.Gly1266Arg VAR_073821
9 COL4A1 p.Asn1627Lys VAR_073826

ClinVar genetic disease variations for Brain Small Vessel Disease with or Without Ocular Anomalies:

6 (show top 50) (show all 276)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A1 NM_001845.5(COL4A1): c.1685G> A (p.Gly562Glu) single nucleotide variant Pathogenic rs121912857 GRCh37 Chromosome 13, 110839528: 110839528
2 COL4A1 NM_001845.5(COL4A1): c.1685G> A (p.Gly562Glu) single nucleotide variant Pathogenic rs121912857 GRCh38 Chromosome 13, 110187181: 110187181
3 COL4A1 NM_001845.5(COL4A1): c.2159G> A (p.Gly720Asp) single nucleotide variant Pathogenic rs113994108 GRCh37 Chromosome 13, 110833673: 110833673
4 COL4A1 NM_001845.5(COL4A1): c.2159G> A (p.Gly720Asp) single nucleotide variant Pathogenic rs113994108 GRCh38 Chromosome 13, 110181326: 110181326
5 COL4A1 NM_001845.5(COL4A1): c.1769G> A (p.Gly590Glu) single nucleotide variant Pathogenic rs113994107 GRCh37 Chromosome 13, 110838860: 110838860
6 COL4A1 NM_001845.5(COL4A1): c.1769G> A (p.Gly590Glu) single nucleotide variant Pathogenic rs113994107 GRCh38 Chromosome 13, 110186513: 110186513
7 COL4A1 NM_001845.5(COL4A1): c.2086G> A (p.Gly696Ser) single nucleotide variant Pathogenic rs587780588 GRCh37 Chromosome 13, 110835349: 110835349
8 COL4A1 NM_001845.5(COL4A1): c.2086G> A (p.Gly696Ser) single nucleotide variant Pathogenic rs587780588 GRCh38 Chromosome 13, 110183002: 110183002
9 COL4A1 NM_001845.5(COL4A1): c.2085delC (p.Gly696Alafs) deletion Pathogenic rs606231464 GRCh38 Chromosome 13, 110183003: 110183003
10 COL4A1 NM_001845.5(COL4A1): c.2085delC (p.Gly696Alafs) deletion Pathogenic rs606231464 GRCh37 Chromosome 13, 110835350: 110835350
11 COL4A1 NM_001845.5(COL4A1): c.2194-1G> A single nucleotide variant Pathogenic rs606231465 GRCh38 Chromosome 13, 110179422: 110179422
12 COL4A1 NM_001845.5(COL4A1): c.2194-1G> A single nucleotide variant Pathogenic rs606231465 GRCh37 Chromosome 13, 110831769: 110831769
13 COL4A1 NM_001845.5(COL4A1): c.2263G> A (p.Gly755Arg) single nucleotide variant Pathogenic rs672601346 GRCh37 Chromosome 13, 110831699: 110831699
14 COL4A1 NM_001845.5(COL4A1): c.2263G> A (p.Gly755Arg) single nucleotide variant Pathogenic rs672601346 GRCh38 Chromosome 13, 110179352: 110179352
15 COL4A1 NM_001845.5(COL4A1): c.2317G> C (p.Gly773Arg) single nucleotide variant Pathogenic rs672601347 GRCh37 Chromosome 13, 110831645: 110831645
16 COL4A1 NM_001845.5(COL4A1): c.2317G> C (p.Gly773Arg) single nucleotide variant Pathogenic rs672601347 GRCh38 Chromosome 13, 110179298: 110179298
17 COL4A1 NM_001845.5(COL4A1): c.4881C> G (p.Asn1627Lys) single nucleotide variant Pathogenic rs672601348 GRCh38 Chromosome 13, 110152381: 110152381
18 COL4A1 NM_001845.5(COL4A1): c.4881C> G (p.Asn1627Lys) single nucleotide variant Pathogenic rs672601348 GRCh37 Chromosome 13, 110804728: 110804728
19 COL4A1 NM_001845.5(COL4A1): c.2122G> A (p.Gly708Arg) single nucleotide variant Pathogenic rs672601349 GRCh38 Chromosome 13, 110181363: 110181363
20 COL4A1 NM_001845.5(COL4A1): c.2122G> A (p.Gly708Arg) single nucleotide variant Pathogenic rs672601349 GRCh37 Chromosome 13, 110833710: 110833710
21 COL4A1; COL4A2 NM_001845.5(COL4A1): c.19G> C (p.Val7Leu) single nucleotide variant Benign rs9515185 GRCh37 Chromosome 13, 110959356: 110959356
22 COL4A1; COL4A2 NM_001845.5(COL4A1): c.19G> C (p.Val7Leu) single nucleotide variant Benign rs9515185 GRCh38 Chromosome 13, 110307009: 110307009
23 COL4A1 NM_001845.5(COL4A1): c.1466-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs183563055 GRCh37 Chromosome 13, 110844637: 110844637
24 COL4A1 NM_001845.5(COL4A1): c.1466-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs183563055 GRCh38 Chromosome 13, 110192290: 110192290
25 COL4A1 NM_001845.5(COL4A1): c.1588C> T (p.Pro530Ser) single nucleotide variant Uncertain significance rs145172612 GRCh37 Chromosome 13, 110839625: 110839625
26 COL4A1 NM_001845.5(COL4A1): c.1588C> T (p.Pro530Ser) single nucleotide variant Uncertain significance rs145172612 GRCh38 Chromosome 13, 110187278: 110187278
27 COL4A1 NM_001845.5(COL4A1): c.1815T> C (p.Pro605=) single nucleotide variant Benign rs61749897 GRCh37 Chromosome 13, 110838814: 110838814
28 COL4A1 NM_001845.5(COL4A1): c.1815T> C (p.Pro605=) single nucleotide variant Benign rs61749897 GRCh38 Chromosome 13, 110186467: 110186467
29 COL4A1 NM_001845.5(COL4A1): c.161C> T (p.Pro54Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34004222 GRCh37 Chromosome 13, 110866346: 110866346
30 COL4A1 NM_001845.5(COL4A1): c.161C> T (p.Pro54Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34004222 GRCh38 Chromosome 13, 110213999: 110213999
31 COL4A1 NM_001845.5(COL4A1): c.234+8C> T single nucleotide variant Benign rs9521650 GRCh37 Chromosome 13, 110866265: 110866265
32 COL4A1 NM_001845.5(COL4A1): c.234+8C> T single nucleotide variant Benign rs9521650 GRCh38 Chromosome 13, 110213918: 110213918
33 COL4A1 NM_001845.5(COL4A1): c.3996C> T (p.Gly1332=) single nucleotide variant Benign rs150857429 GRCh37 Chromosome 13, 110818604: 110818604
34 COL4A1 NM_001845.5(COL4A1): c.3996C> T (p.Gly1332=) single nucleotide variant Benign rs150857429 GRCh38 Chromosome 13, 110166257: 110166257
35 COL4A1 NM_001845.5(COL4A1): c.4002A> C (p.Gln1334His) single nucleotide variant Benign rs3742207 GRCh37 Chromosome 13, 110818598: 110818598
36 COL4A1 NM_001845.5(COL4A1): c.4002A> C (p.Gln1334His) single nucleotide variant Benign rs3742207 GRCh38 Chromosome 13, 110166251: 110166251
37 COL4A1 NM_001845.5(COL4A1): c.4056C> T (p.Tyr1352=) single nucleotide variant Likely benign rs140210015 GRCh37 Chromosome 13, 110817303: 110817303
38 COL4A1 NM_001845.5(COL4A1): c.4056C> T (p.Tyr1352=) single nucleotide variant Likely benign rs140210015 GRCh38 Chromosome 13, 110164956: 110164956
39 COL4A1 NM_001845.5(COL4A1): c.393G> A (p.Glu131=) single nucleotide variant Benign/Likely benign rs34458255 GRCh37 Chromosome 13, 110864264: 110864264
40 COL4A1 NM_001845.5(COL4A1): c.393G> A (p.Glu131=) single nucleotide variant Benign/Likely benign rs34458255 GRCh38 Chromosome 13, 110211917: 110211917
41 COL4A1 NM_001845.5(COL4A1): c.2662G> A (p.Gly888Arg) single nucleotide variant Likely pathogenic rs797045034 GRCh37 Chromosome 13, 110830243: 110830243
42 COL4A1 NM_001845.5(COL4A1): c.2662G> A (p.Gly888Arg) single nucleotide variant Likely pathogenic rs797045034 GRCh38 Chromosome 13, 110177896: 110177896
43 VPS11 NM_021729.5(VPS11): c.2536T> G (p.Cys846Gly) single nucleotide variant Pathogenic rs34757931 GRCh38 Chromosome 11, 119081189: 119081189
44 VPS11 NM_021729.5(VPS11): c.2536T> G (p.Cys846Gly) single nucleotide variant Pathogenic rs34757931 GRCh37 Chromosome 11, 118951899: 118951899
45 COL4A1 NM_001845.5(COL4A1): c.4800C> T (p.Ser1600=) single nucleotide variant Benign rs650724 GRCh38 Chromosome 13, 110152462: 110152462
46 COL4A1 NM_001845.5(COL4A1): c.4800C> T (p.Ser1600=) single nucleotide variant Benign rs650724 GRCh37 Chromosome 13, 110804809: 110804809
47 COL4A1 NM_001845.5(COL4A1): c.4797G> A (p.Ala1599=) single nucleotide variant Likely benign rs146638269 GRCh37 Chromosome 13, 110804812: 110804812
48 COL4A1 NM_001845.5(COL4A1): c.4797G> A (p.Ala1599=) single nucleotide variant Likely benign rs146638269 GRCh38 Chromosome 13, 110152465: 110152465
49 COL4A1 NM_001845.5(COL4A1): c.4640+7C> T single nucleotide variant Benign rs2275843 GRCh38 Chromosome 13, 110161185: 110161185
50 COL4A1 NM_001845.5(COL4A1): c.4640+7C> T single nucleotide variant Benign rs2275843 GRCh37 Chromosome 13, 110813532: 110813532

Expression for Brain Small Vessel Disease with or Without Ocular Anomalies

Search GEO for disease gene expression data for Brain Small Vessel Disease with or Without Ocular Anomalies.

Pathways for Brain Small Vessel Disease with or Without Ocular Anomalies

Pathways related to Brain Small Vessel Disease with or Without Ocular Anomalies according to KEGG:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

GO Terms for Brain Small Vessel Disease with or Without Ocular Anomalies

Biological processes related to Brain Small Vessel Disease with or Without Ocular Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 8.62 PURA SIX3

Molecular functions related to Brain Small Vessel Disease with or Without Ocular Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 9.16 PURA TREX1
2 single-stranded DNA binding GO:0003697 8.96 PURA TREX1
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 PURA SIX3

Sources for Brain Small Vessel Disease with or Without Ocular Anomalies

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 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
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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