FSGS2
MCID: FCL026
MIFTS: 39

Focal Segmental Glomerulosclerosis 2 (FSGS2)

Categories: Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis 2

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 2:

Name: Focal Segmental Glomerulosclerosis 2 57 12 72 29 6 15 70
Fsgs2 57 12 72
Glomerulosclerosis, Focal Segmental, 2 57 13
Glomerulosclerosis, Segmental, Focal, Type 2 39

Characteristics:

OMIM®:

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

Miscellaneous:
mean age at presentation to a physician was 33 (range 16 to 61 years)


HPO:

31
focal segmental glomerulosclerosis 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111129
OMIM® 57 603965
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923
ICD10 32 N04.1
MedGen 41 C1858915
UMLS 70 C1858915

Summaries for Focal Segmental Glomerulosclerosis 2

OMIM® : 57 Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 (603278). (603965) (Updated 05-Apr-2021)

MalaCards based summary : Focal Segmental Glomerulosclerosis 2, also known as fsgs2, is related to glomerular disease and crescentic glomerulonephritis. An important gene associated with Focal Segmental Glomerulosclerosis 2 is TRPC6 (Transient Receptor Potential Cation Channel Subfamily C Member 6), and among its related pathways/superpathways are Cell junction organization and Amoebiasis. Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in a mutation of TRPC6 on chromosome 11q22.1.

UniProtKB/Swiss-Prot : 72 Focal segmental glomerulosclerosis 2: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.

Related Diseases for Focal Segmental Glomerulosclerosis 2

Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 10 Focal Segmental Glomerulosclerosis 1
Focal Segmental Glomerulosclerosis 2 Focal Segmental Glomerulosclerosis 3
Focal Segmental Glomerulosclerosis 4 Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 6 Focal Segmental Glomerulosclerosis 7
Focal Segmental Glomerulosclerosis 8 Focal Segmental Glomerulosclerosis 9

Diseases related to Focal Segmental Glomerulosclerosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 glomerular disease 10.0 CD2AP ACTN4
2 crescentic glomerulonephritis 9.9 NPHS2 ACTN4
3 idiopathic steroid-resistant nephrotic syndrome 9.8 NPHS2 NPHS1
4 congenital syphilis 9.8 NPHS2 NPHS1
5 glutamate-cysteine ligase deficiency 9.8 TRPC6 NPHS1
6 kidney hypertrophy 9.8 NPHS2 NPHS1
7 nephrotic syndrome, type 10 9.8 NPHS2 NPHS1
8 acute proliferative glomerulonephritis 9.8 NPHS2 NPHS1
9 nephrosclerosis 9.7 NPHS2 NPHS1
10 focal segmental glomerulosclerosis 8 9.7 LAMB2 INF2 CRB2
11 focal segmental glomerulosclerosis 7 9.7 LAMB2 INF2 CRB2
12 focal segmental glomerulosclerosis 9 9.7 LAMB2 INF2 CRB2
13 iga glomerulonephritis 9.6 NPHS2 NPHS1 CD2AP
14 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.6 NPHS2 NPHS1 ACTN4
15 diffuse mesangial sclerosis 9.5 NPHS2 NPHS1 LAMB2
16 focal segmental glomerulosclerosis 5 9.5 LAMB2 INF2 CD2AP ACTN4
17 membranous nephropathy 9.5 TRPC6 NPHS2 NPHS1 CD2AP
18 nephrotic syndrome, type 1 9.4 NPHS2 NPHS1 CD2AP ACTN4
19 wilms tumor 1 9.3 NPHS2 NPHS1 CD2AP ACTN4
20 hypoparathyroidism, sensorineural deafness, and renal disease 9.3 NPHS2 NPHS1 LAMB2 ACTN4
21 chronic kidney disease 9.2 NPHS2 NPHS1 ACTN4
22 lipoid nephrosis 9.2 TRPC6 NPHS2 NPHS1 CD2AP ACTN4
23 focal segmental glomerulosclerosis 6 9.2 LAMB2 INF2 CRB2 CD2AP ACTN4
24 hypertension, essential 9.2 TRPC6 NPHS2 NPHS1 INF2
25 oligomeganephronia 9.2 NPHS2 NPHS1 INF2 CD2AP ACTN4
26 nephrotic syndrome, type 2 9.2 NPHS2 NPHS1 INF2 CD2AP ACTN4
27 proteinuria, chronic benign 9.2 NPHS2 NPHS1 INF2 CD2AP ACTN4
28 nail-patella syndrome 9.2 NPHS2 NPHS1 INF2 CD2AP ACTN4
29 frasier syndrome 9.0 TRPC6 NPHS2 NPHS1 INF2 CD2AP ACTN4
30 denys-drash syndrome 9.0 TRPC6 NPHS2 NPHS1 INF2 CD2AP ACTN4
31 end stage renal disease 9.0 TRPC6 NPHS2 NPHS1 INF2 CD2AP ACTN4
32 pierson syndrome 8.9 NPHS2 NPHS1 LAMB2 INF2 CD2AP ACTN4
33 galloway-mowat syndrome 8.8 NPHS2 NPHS1 LAMB2 INF2 CD2AP ACTN4
34 familial nephrotic syndrome 8.7 TRPC6 NPHS2 NPHS1 INF2 CRB2 CD2AP
35 genetic steroid-resistant nephrotic syndrome 8.7 TRPC6 NPHS2 NPHS1 INF2 CRB2 CD2AP
36 kidney disease 8.7 TRPC6 NPHS2 NPHS1 INF2 CRB2 CD2AP
37 alport syndrome 8.7 TRPC6 NPHS2 NPHS1 LAMB2 INF2 CD2AP
38 nephrotic syndrome 8.4 TRPC6 NPHS2 NPHS1 LAMB2 INF2 CRB2
39 focal segmental glomerulosclerosis 8.4 TRPC6 NPHS2 NPHS1 LAMB2 INF2 CRB2
40 focal segmental glomerulosclerosis 1 8.4 TRPC6 NPHS2 NPHS1 LAMB2 INF2 CRB2

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 2:



Diseases related to Focal Segmental Glomerulosclerosis 2

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 2

Human phenotypes related to Focal Segmental Glomerulosclerosis 2:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 proteinuria 31 HP:0000093
3 nephrotic syndrome 31 HP:0000100
4 chronic kidney disease 31 HP:0012622
5 stage 5 chronic kidney disease 31 HP:0003774
6 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
proteinuria (greater than 3+ by qualitative urinalysis)

Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
end stage renal disease

Clinical features from OMIM®:

603965 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ACTN4 CD2AP CRB2 INF2 NPHS2 TRPC6
2 renal/urinary system MP:0005367 9.02 ACTN4 CD2AP LAMB2 NPHS1 NPHS2

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 2

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 2

Genetic Tests for Focal Segmental Glomerulosclerosis 2

Genetic tests related to Focal Segmental Glomerulosclerosis 2:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 2 29 TRPC6

Anatomical Context for Focal Segmental Glomerulosclerosis 2

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 2:

40
Kidney

Publications for Focal Segmental Glomerulosclerosis 2

Articles related to Focal Segmental Glomerulosclerosis 2:

(show all 11)
# Title Authors PMID Year
1
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. 6 57
15924139 2005
2
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 57 6
15879175 2005
3
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. 57 6
10200986 1999
4
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. 6
28204945 2017
5
Mechanisms of disease: focal segmental glomerulosclerosis. 57
16932363 2005
6
Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. 57
10368108 1999
7
Nephrotic syndrome associated with Kimura's disease: a case report and literature review. 61
30409112 2018
8
Histopathological spectrum of childhood idiopathic steroid-resistant nephrotic syndrome in Tunisia. 61
21387228 2011
9
Improvement and stabilization of chronic kidney disease after gastric bypass. 61
18996757 2009
10
Diabetic retinopathy is a poor predictor of type of nephropathy in proteinuric type 2 diabetic patients. 61
17879494 2007
11
Digital subtraction venography in the diagnosis of renal vein thrombosis. 61
1799189 1991

Variations for Focal Segmental Glomerulosclerosis 2

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 2:

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPC6 NM_004621.6(TRPC6):c.808T>A (p.Ser270Thr) SNV Pathogenic 6153 rs121434392 GRCh37: 11:101374892-101374892
GRCh38: 11:101504161-101504161
2 TRPC6 NM_004621.6(TRPC6):c.2620A>T (p.Lys874Ter) SNV Pathogenic 6154 rs121434393 GRCh37: 11:101324405-101324405
GRCh38: 11:101453674-101453674
3 TRPC6 NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys) SNV Pathogenic 6156 rs121434395 GRCh37: 11:101323793-101323793
GRCh38: 11:101453062-101453062
4 TRPC6 NM_004621.6(TRPC6):c.335C>A (p.Pro112Gln) SNV Pathogenic 6151 rs121434390 GRCh37: 11:101375365-101375365
GRCh38: 11:101504634-101504634
5 TRPC6 NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) SNV Pathogenic 829823 rs1451194842 GRCh37: 11:101375176-101375176
GRCh38: 11:101504445-101504445
6 TRPC6 NM_004621.6(TRPC6):c.2643dup (p.Gly882fs) Duplication Pathogenic 974548 GRCh37: 11:101324381-101324382
GRCh38: 11:101453650-101453651
7 TRPC6 NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) SNV Pathogenic 6155 rs121434394 GRCh37: 11:101323799-101323799
GRCh38: 11:101453068-101453068
8 TRPC6 NM_004621.6(TRPC6):c.1520G>A (p.Trp507Ter) SNV Pathogenic 1028794 GRCh37: 11:101347256-101347256
GRCh38: 11:101476525-101476525
9 TRPC6 NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) SNV Pathogenic 222850 rs869025541 GRCh37: 11:101375177-101375177
GRCh38: 11:101504446-101504446
10 TRPC6 NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter) SNV Likely pathogenic 974547 GRCh37: 11:101324384-101324384
GRCh38: 11:101453653-101453653
11 TRPC6 NM_004621.6(TRPC6):c.643C>G (p.Arg215Gly) SNV Likely pathogenic 635496 rs768210838 GRCh37: 11:101375057-101375057
GRCh38: 11:101504326-101504326
12 TRPC6 NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) SNV Likely pathogenic 522496 rs1555003819 GRCh37: 11:101375182-101375182
GRCh38: 11:101504451-101504451
13 TRPC6 NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) SNV Conflicting interpretations of pathogenicity 6152 rs121434391 GRCh37: 11:101375272-101375272
GRCh38: 11:101504541-101504541
14 TRPC6 NM_004621.6(TRPC6):c.*1380G>A SNV Uncertain significance 301875 rs747229991 GRCh37: 11:101322306-101322306
GRCh38: 11:101451575-101451575
15 TRPC6 NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr) SNV Uncertain significance 266000 rs886039885 GRCh37: 11:101454230-101454230
GRCh38: 11:101583499-101583499
16 TRPC6 NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile) SNV Uncertain significance 266010 rs201363468 GRCh37: 11:101375396-101375396
GRCh38: 11:101504665-101504665
17 TRPC6 NM_004621.6(TRPC6):c.-143C>T SNV Uncertain significance 301917 rs886047539 GRCh37: 11:101454377-101454377
GRCh38: 11:101583646-101583646
18 TRPC6 NM_004621.6(TRPC6):c.*1349T>C SNV Uncertain significance 301876 rs180930016 GRCh37: 11:101322337-101322337
GRCh38: 11:101451606-101451606
19 TRPC6 NM_004621.6(TRPC6):c.*175A>C SNV Uncertain significance 301893 rs199878670 GRCh37: 11:101323511-101323511
GRCh38: 11:101452780-101452780
20 TRPC6 NM_004621.6(TRPC6):c.-35G>A SNV Uncertain significance 301915 rs886047538 GRCh37: 11:101454269-101454269
GRCh38: 11:101583538-101583538
21 TRPC6 NM_004621.6(TRPC6):c.*1038T>G SNV Uncertain significance 301879 rs142655335 GRCh37: 11:101322648-101322648
GRCh38: 11:101451917-101451917
22 TRPC6 NM_004621.6(TRPC6):c.*821C>T SNV Uncertain significance 301882 rs886047536 GRCh37: 11:101322865-101322865
GRCh38: 11:101452134-101452134
23 TRPC6 NM_004621.6(TRPC6):c.2508T>C (p.Ser836=) SNV Uncertain significance 301900 rs377172208 GRCh37: 11:101325809-101325809
GRCh38: 11:101455078-101455078
24 TRPC6 NM_004621.6(TRPC6):c.-317C>G SNV Uncertain significance 301921 rs886047540 GRCh37: 11:101454551-101454551
GRCh38: 11:101583820-101583820
25 TRPC6 NM_004621.6(TRPC6):c.*668G>A SNV Uncertain significance 301885 rs200307747 GRCh37: 11:101323018-101323018
GRCh38: 11:101452287-101452287
26 TRPC6 NM_004621.6(TRPC6):c.-343C>G SNV Uncertain significance 301923 rs200074836 GRCh37: 11:101454577-101454577
GRCh38: 11:101583846-101583846
27 TRPC6 NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr) SNV Uncertain significance 301903 rs773581652 GRCh37: 11:101344321-101344321
GRCh38: 11:101473590-101473590
28 TRPC6 NM_004621.6(TRPC6):c.673C>G (p.Leu225Val) SNV Uncertain significance 522503 rs201368333 GRCh37: 11:101375027-101375027
GRCh38: 11:101504296-101504296
29 TRPC6 NM_004621.6(TRPC6):c.769G>A (p.Asp257Asn) SNV Uncertain significance 599101 rs1565221149 GRCh37: 11:101374931-101374931
GRCh38: 11:101504200-101504200
30 TRPC6 NM_004621.6(TRPC6):c.2009+1G>A SNV Uncertain significance 632146 rs199611561 GRCh37: 11:101344239-101344239
GRCh38: 11:101473508-101473508
31 TRPC6 NM_004621.6(TRPC6):c.1886_1887insC (p.Arg629fs) Insertion Uncertain significance 632147 rs780501413 GRCh37: 11:101344362-101344363
GRCh38: 11:101473631-101473632
32 TRPC6 NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr) SNV Uncertain significance 301904 rs775034304 GRCh37: 11:101344363-101344363
GRCh38: 11:101473632-101473632
33 TRPC6 NM_004621.6(TRPC6):c.-243C>T SNV Uncertain significance 301919 rs199601311 GRCh37: 11:101454477-101454477
GRCh38: 11:101583746-101583746
34 TRPC6 NM_004621.6(TRPC6):c.1344C>A (p.Ala448=) SNV Uncertain significance 301907 rs554849365 GRCh37: 11:101353846-101353846
GRCh38: 11:101483115-101483115
35 TRPC6 NM_004621.6(TRPC6):c.2574A>C (p.Ile858=) SNV Uncertain significance 301899 rs751323115 GRCh37: 11:101324451-101324451
GRCh38: 11:101453720-101453720
36 TRPC6 NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe) SNV Uncertain significance 301909 rs775521973 GRCh37: 11:101362358-101362358
GRCh38: 11:101491627-101491627
37 TRPC6 NM_004621.6(TRPC6):c.-344C>G SNV Uncertain significance 301924 rs867713895 GRCh37: 11:101454578-101454578
GRCh38: 11:101583847-101583847
38 TRPC6 NM_004621.6(TRPC6):c.-406C>A SNV Uncertain significance 301927 rs886047542 GRCh37: 11:101454640-101454640
GRCh38: 11:101583909-101583909
39 TRPC6 NM_004621.6(TRPC6):c.*1176T>C SNV Uncertain significance 301877 rs886047535 GRCh37: 11:101322510-101322510
GRCh38: 11:101451779-101451779
40 TRPC6 NM_004621.6(TRPC6):c.-125C>T SNV Uncertain significance 301916 rs201034657 GRCh37: 11:101454359-101454359
GRCh38: 11:101583628-101583628
41 TRPC6 NM_004621.6(TRPC6):c.*1020G>A SNV Uncertain significance 301880 rs201292926 GRCh37: 11:101322666-101322666
GRCh38: 11:101451935-101451935
42 TRPC6 NM_004621.6(TRPC6):c.*792G>A SNV Uncertain significance 301883 rs201986308 GRCh37: 11:101322894-101322894
GRCh38: 11:101452163-101452163
43 TRPC6 NM_004621.6(TRPC6):c.*575C>A SNV Uncertain significance 301886 rs200705719 GRCh37: 11:101323111-101323111
GRCh38: 11:101452380-101452380
44 TRPC6 NM_004621.6(TRPC6):c.2410-11A>G SNV Uncertain significance 301901 rs886047537 GRCh37: 11:101340243-101340243
GRCh38: 11:101469512-101469512
45 TRPC6 NM_004621.6(TRPC6):c.1747A>G (p.Arg583Gly) SNV Uncertain significance 635514 rs200107149 GRCh37: 11:101344502-101344502
GRCh38: 11:101473771-101473771
46 TRPC6 NM_004621.6(TRPC6):c.-360T>C SNV Uncertain significance 301925 rs192759166 GRCh37: 11:101454594-101454594
GRCh38: 11:101583863-101583863
47 TRPC6 NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) SNV Uncertain significance 805688 rs1591517921 GRCh37: 11:101323804-101323804
GRCh38: 11:101453073-101453073
48 TRPC6 NM_004621.6(TRPC6):c.364C>T (p.His122Tyr) SNV Uncertain significance 829948 rs774329493 GRCh37: 11:101375336-101375336
GRCh38: 11:101504605-101504605
49 TRPC6 NM_004621.6(TRPC6):c.218G>A (p.Arg73His) SNV Uncertain significance 829956 rs371919016 GRCh37: 11:101375482-101375482
GRCh38: 11:101504751-101504751
50 TRPC6 NM_004621.6(TRPC6):c.*1147A>G SNV Uncertain significance 877401 GRCh37: 11:101322539-101322539
GRCh38: 11:101451808-101451808

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 2:

72
# Symbol AA change Variation ID SNP ID
1 TRPC6 p.Pro112Gln VAR_026730 rs121434390
2 TRPC6 p.Asn143Ser VAR_026731 rs121434391
3 TRPC6 p.Ser270Thr VAR_026732 rs121434392
4 TRPC6 p.Arg895Cys VAR_026733 rs121434394
5 TRPC6 p.Glu897Lys VAR_026734 rs121434395
6 TRPC6 p.His218Leu VAR_067248 rs779430565
7 TRPC6 p.Arg895Leu VAR_067249
8 TRPC6 p.Gly109Ser VAR_079786
9 TRPC6 p.Arg175Gln VAR_079787 rs145119484
10 TRPC6 p.Gly757Asp VAR_079790

Expression for Focal Segmental Glomerulosclerosis 2

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 2.

Pathways for Focal Segmental Glomerulosclerosis 2

GO Terms for Focal Segmental Glomerulosclerosis 2

Cellular components related to Focal Segmental Glomerulosclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.56 NPHS2 CRB2 CD2AP ACTN4
2 extracellular exosome GO:0070062 9.43 NPHS2 NPHS1 LAMB2 CRB2 CD2AP ACTN4
3 cell-cell junction GO:0005911 9.33 NPHS2 NPHS1 CD2AP
4 slit diaphragm GO:0036057 8.8 TRPC6 NPHS2 NPHS1

Biological processes related to Focal Segmental Glomerulosclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 8.96 NPHS2 NPHS1
2 metanephric glomerular visceral epithelial cell development GO:0072249 8.62 NPHS2 LAMB2

Molecular functions related to Focal Segmental Glomerulosclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.13 CRB2 CD2AP ACTN4
2 actin binding GO:0003779 8.8 TRPC6 INF2 ACTN4

Sources for Focal Segmental Glomerulosclerosis 2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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