CFHD
MCID: CMP042
MIFTS: 41

Complement Factor H Deficiency (CFHD)

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

Aliases & Classifications for Complement Factor H Deficiency

MalaCards integrated aliases for Complement Factor H Deficiency:

Name: Complement Factor H Deficiency 58 76 13 74
Factor H Deficiency 58 76 30 6
Cfh Deficiency 58 76
Cfhd 58 76
Membranoproliferative Glomerulonephritis, Type Ii 74
Membranoproliferative Glomerulonephritis Type 2 60
Immunodeficiency with Factor H Anomaly 60
Deficiency, Complement Factor H 41
Dense Deposit Disease 60

Characteristics:

Orphanet epidemiological data:

60
dense deposit disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy or childhood
some patients may be asymptomatic


HPO:

33
complement factor h deficiency:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 609814
MeSH 45 D007154
MESH via Orphanet 46 D015432
ICD10 via Orphanet 35 D84.1 N04.6
UMLS via Orphanet 75 C0268743 C0398777

Summaries for Complement Factor H Deficiency

OMIM : 58 Complement factor H deficiency (CFHD) can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3 (120700), and a decrease in other alternative pathway components, indicating activation of the alternative complement pathway. Homozygotes and heterozygotes may show increased susceptibility to meningococcal infections. In addition, a number of renal diseases have been associated with factor H defect or deficiency, including atypical hemolytic-uremic syndrome (aHUS; 235400), membranoproliferative glomerulonephritis type II (MPGN II), and nonspecific hematuria or nephritis (Ault, 2000). See also complement factor I deficiency (610984), which shows phenotypic overlap with this disorder. Welch (2002) discussed the role of complement in renal disease. (609814)

MalaCards based summary : Complement Factor H Deficiency, also known as factor h deficiency, is related to membranoproliferative glomerulonephritis and glomerulonephritis. An important gene associated with Complement Factor H Deficiency is CFH (Complement Factor H), and among its related pathways/superpathways are Creation of C4 and C2 activators and Complement Pathway. Affiliated tissues include kidney, liver and endothelial, and related phenotypes are hematuria and recurrent bacterial infections

UniProtKB/Swiss-Prot : 76 Complement factor H deficiency: A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome.

Related Diseases for Complement Factor H Deficiency

Diseases related to Complement Factor H Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 membranoproliferative glomerulonephritis 29.7 CD46 CFH
2 glomerulonephritis 29.4 CD46 CFH CFI
3 hemolytic-uremic syndrome 29.2 CD46 CFH CFHR1 CFI
4 hemolytic uremic syndrome, atypical 1 28.8 CD46 CFH CFHR1 CFI
5 macular degeneration, age-related, 1 28.5 CD46 CFH CFHR1 CFI
6 complement factor i deficiency 11.3
7 glomerulopathy with fibronectin deposits 2 10.4
8 fibrillary glomerulonephritis 10.4
9 immunotactoid glomerulopathy 10.4
10 myeloma, multiple 10.0
11 crescentic glomerulonephritis 10.0
12 monoclonal gammopathy of uncertain significance 10.0
13 systemic lupus erythematosus 9.9
14 immune-complex glomerulonephritis 9.9
15 c3 glomerulopathy 9.9
16 dense deposit disease 9.9
17 streptococcal group a invasive disease 9.9
18 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 9.9
19 basal laminar drusen 9.9
20 aging 9.9
21 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.9
22 acute kidney failure 9.9
23 diabetes mellitus 9.9
24 nephrotic syndrome 9.9
25 mycoplasma pneumoniae pneumonia 9.9
26 pneumonia 9.9
27 kidney disease 9.9
28 vasculitis 9.9
29 lupus erythematosus 9.9
30 amyloidosis 9.9
31 thrombotic thrombocytopenic purpura 9.8 CD46 CFH
32 de novo thrombotic microangiopathy after kidney transplantation 9.8 CFH CFI
33 familial drusen 9.8 CFH CFI
34 lyme disease 9.8 CFH CFHR1
35 anterior uveitis 9.8 CFH CFI
36 macular degeneration, age-related, 4 9.7
37 collagen type iii glomerulopathy 9.7
38 afibrinogenemia 9.6 CD46 CFI
39 degeneration of macula and posterior pole 9.5 CFH CFHR1 CFI
40 hemolytic anemia 9.5 CFH CFI
41 hellp syndrome 9.4 CD46 CFH CFI
42 enterocolitis 9.2 CD46 CFH CFHR1 CFI

Graphical network of the top 20 diseases related to Complement Factor H Deficiency:



Diseases related to Complement Factor H Deficiency

Symptoms & Phenotypes for Complement Factor H Deficiency

Human phenotypes related to Complement Factor H Deficiency:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hematuria 33 HP:0000790
2 recurrent bacterial infections 33 HP:0002718
3 chronic kidney disease 33 HP:0012622
4 depletion of components of the alternative complement pathway 33 HP:0005389
5 decreased serum complement factor h 33 HP:0005369
6 thickening of the glomerular basement membrane 33 HP:0004722
7 glomerular subendothelial electron-dense deposits 33 HP:0004746

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
hematuria
progressive renal failure
membranoproliferative glomerulonephritis type ii
thickening of the glomerular basement membrane on renal biopsy
deposition of complement component c3 in glomerular basement membrane

Laboratory Abnormalities:
hypocomplementemia
decreased serum complement factor h
normal levels of complement factor h, but impaired function

Immunology:
continuous activation of the alternative complement pathway
hypocomplementemia
depletion of components of the alternative complement pathway
increased susceptibility to certain bacterial infections, especially neisseria meningitidis

Clinical features from OMIM:

609814

Drugs & Therapeutics for Complement Factor H Deficiency

Search Clinical Trials , NIH Clinical Center for Complement Factor H Deficiency

Genetic Tests for Complement Factor H Deficiency

Genetic tests related to Complement Factor H Deficiency:

# Genetic test Affiliating Genes
1 Factor H Deficiency 30 CFH

Anatomical Context for Complement Factor H Deficiency

MalaCards organs/tissues related to Complement Factor H Deficiency:

42
Kidney, Liver, Endothelial

Publications for Complement Factor H Deficiency

Articles related to Complement Factor H Deficiency:

(show all 50)
# Title Authors Year
1
Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation. ( 29215813 )
2018
2
Partial Complement Factor H Deficiency Associates with C3 Glomerulopathy and Thrombotic Microangiopathy. ( 26374608 )
2016
3
Long-term successful liver-kidney transplantation in a child with atypical hemolytic uremic syndrome caused by homozygous factor H deficiency. ( 27744619 )
2016
4
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. ( 25880396 )
2015
5
Anesthetic management of living donor liver transplantation for complement factor H deficiency hemolytic uremic syndrome: a case report. ( 25006375 )
2014
6
Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency. ( 25149852 )
2014
7
C3 dysregulation due to factor H deficiency is mannan-binding lectin-associated serine proteases (MASP)-1 and MASP-3 independent in vivo. ( 24279761 )
2014
8
A novel use of intravenous immunoglobulin is not restricted to complement hypercatabolism because of factor H deficiency. ( 24919726 )
2014
9
Loss of properdin exacerbates C3 glomerulopathy resulting from factor H deficiency. ( 23184055 )
2013
10
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy. ( 23870792 )
2013
11
A rare case: childhood-onset C3 glomerulonephritis due to homozygous factor H deficiency. ( 28509298 )
2013
12
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. ( 24036949 )
2013
13
Complement factor H deficiency results in decreased neuroretinal expression of Cd59a in aged mice. ( 22918646 )
2012
14
Complement factor H deficiency accelerates development of lupus nephritis. ( 21148254 )
2011
15
Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. ( 21270828 )
2011
16
Idiopathic combined, autoantibody-mediated ADAMTS-13/factor H deficiency in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome in a 17-year-old woman: a case report. ( 22206706 )
2011
17
Heterogeneous pattern of renal disease associated with homozygous factor H deficiency. ( 21396679 )
2011
18
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. ( 22019782 )
2011
19
A case of dense deposit disease associated with a group A streptococcal infection without the involvement of C3NeF or complement factor H deficiency. ( 20221776 )
2010
20
Hemolytic uremic syndrome due to homozygous factor H deficiency. ( 19568827 )
2009
21
Factor I and factor H deficiency in renal diseases: similar defects in the fluid phase have a different outcome at the surface of the glomerular basement membrane. ( 19056782 )
2009
22
Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits. ( 18371543 )
2008
23
Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction. ( 17921253 )
2007
24
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. ( 17018561 )
2007
25
Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. ( 17295030 )
2007
26
Ocular involvement in hemolytic uremic syndrome due to factor H deficiency--are there therapeutic consequences? ( 17619907 )
2007
27
Secondary failure of plasma therapy in factor H deficiency. ( 16909242 )
2006
28
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. ( 16936733 )
2006
29
Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15. ( 15685522 )
2005
30
Complement factor H deficiency in acute allograft glomerulopathy and post-transplant hemolytic uremic syndrome. ( 14974950 )
2004
31
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. ( 14978182 )
2004
32
A favorable outcome of hemolytic uremic syndrome with factor H deficiency. ( 15138872 )
2004
33
Factor H deficiency and fibrillary glomerulopathy. ( 14767033 )
2004
34
Attempted treatment of factor H deficiency by liver transplantation. ( 14986080 )
2004
35
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. ( 12697737 )
2003
36
Familial hemolytic uremic syndrome associated with complement factor H deficiency. ( 11241053 )
2001
37
Hemolytic-uremic syndrome and complement factor H deficiency: clinical aspects. ( 11446651 )
2001
38
Successful plasma therapy in hemolytic uremic syndrome with factor H deficiency. ( 11465803 )
2001
39
Molecular basis for factor H and FHL-1 deficiency in an Italian family. ( 10803850 )
2000
40
Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency. ( 10206995 )
1999
41
Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency. ( 10344366 )
1999
42
Human complement factor H deficiency associated with hemolytic uremic syndrome. ( 9848786 )
1998
43
Eradication of porcine factor H deficiency in Norway. ( 9141221 )
1997
44
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. ( 9312129 )
1997
45
Heterozygous and homozygous factor H deficiency states in a Dutch family. ( 8809142 )
1996
46
Inherited factor H deficiency and collagen type III glomerulopathy. ( 7742208 )
1995
47
Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency. ( 7883953 )
1995
48
Familial hemolytic-uremic syndrome and homozygous factor H deficiency. ( 7985673 )
1994
49
Combined homozygous factor H and heterozygous C2 deficiency in an Italian family. ( 2966809 )
1988
50
H deficiency in two brothers with atypical dense intramembranous deposit disease. ( 2950269 )
1986

Variations for Complement Factor H Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Complement Factor H Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 CFH p.Cys536Arg VAR_019405
2 CFH p.Cys959Tyr VAR_019406
3 CFH p.Gln1076Glu VAR_025873
4 CFH p.Asp1119Gly VAR_025874
5 CFH p.Thr1184Arg VAR_025881
6 CFH p.Arg1210Cys VAR_025885
7 CFH p.Arg1215Gln VAR_025887
8 CFH p.Arg127Leu VAR_031978
9 CFH p.Cys431Ser VAR_031981
10 CFH p.Cys673Ser VAR_031982

ClinVar genetic disease variations for Complement Factor H Deficiency:

6 (show top 50) (show all 202)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFH NM_000186.3(CFH): c.1606T> C (p.Cys536Arg) single nucleotide variant Pathogenic rs121913052 GRCh37 Chromosome 1, 196684809: 196684809
2 CFH NM_000186.3(CFH): c.1606T> C (p.Cys536Arg) single nucleotide variant Pathogenic rs121913052 GRCh38 Chromosome 1, 196715679: 196715679
3 CFH NM_000186.3(CFH): c.2876G> A (p.Cys959Tyr) single nucleotide variant Pathogenic rs121913053 GRCh37 Chromosome 1, 196709842: 196709842
4 CFH NM_000186.3(CFH): c.2876G> A (p.Cys959Tyr) single nucleotide variant Pathogenic rs121913053 GRCh38 Chromosome 1, 196740712: 196740712
5 CFH NM_000186.3(CFH): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs121913054 GRCh37 Chromosome 1, 196646743: 196646743
6 CFH NM_000186.3(CFH): c.565G> T (p.Glu189Ter) single nucleotide variant Pathogenic rs121913054 GRCh38 Chromosome 1, 196677613: 196677613
7 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh37 Chromosome 1, 196642233: 196642233
8 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh38 Chromosome 1, 196673103: 196673103
9 CFH NM_000186.3(CFH): c.1291T> A (p.Cys431Ser) single nucleotide variant Pathogenic rs121913056 GRCh37 Chromosome 1, 196659324: 196659324
10 CFH NM_000186.3(CFH): c.1291T> A (p.Cys431Ser) single nucleotide variant Pathogenic rs121913056 GRCh38 Chromosome 1, 196690194: 196690194
11 CFH NM_000186.3(CFH): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs121913058 GRCh37 Chromosome 1, 196645148: 196645148
12 CFH NM_000186.3(CFH): c.380G> T (p.Arg127Leu) single nucleotide variant Pathogenic rs121913058 GRCh38 Chromosome 1, 196676018: 196676018
13 CFH NM_000186.3(CFH): c.671_673delAGA (p.Lys224del) deletion Pathogenic rs796052138 GRCh37 Chromosome 1, 196648804: 196648806
14 CFH NM_000186.3(CFH): c.671_673delAGA (p.Lys224del) deletion Pathogenic rs796052138 GRCh38 Chromosome 1, 196679674: 196679676
15 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
16 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh38 Chromosome 1, 196747245: 196747245
17 CFHR5 NM_030787.3(CFHR5): c.622T> C (p.Cys208Arg) single nucleotide variant Uncertain significance rs41299613 GRCh38 Chromosome 1, 196995731: 196995731
18 CFHR5 NM_030787.3(CFHR5): c.622T> C (p.Cys208Arg) single nucleotide variant Uncertain significance rs41299613 GRCh37 Chromosome 1, 196964861: 196964861
19 CFH NM_000186.3(CFH): c.3176T> C (p.Ile1059Thr) single nucleotide variant Benign/Likely benign rs35343172 GRCh37 Chromosome 1, 196712624: 196712624
20 CFH NM_000186.3(CFH): c.3176T> C (p.Ile1059Thr) single nucleotide variant Benign/Likely benign rs35343172 GRCh38 Chromosome 1, 196743494: 196743494
21 CFH NM_000186.3(CFH): c.-195T> C single nucleotide variant Benign rs35836460 GRCh38 Chromosome 1, 196651923: 196651923
22 CFH NM_000186.3(CFH): c.-195T> C single nucleotide variant Benign rs35836460 GRCh37 Chromosome 1, 196621053: 196621053
23 CFH NM_000186.3(CFH): c.-61A> G single nucleotide variant Uncertain significance rs886045741 GRCh38 Chromosome 1, 196652057: 196652057
24 CFH NM_000186.3(CFH): c.-61A> G single nucleotide variant Uncertain significance rs886045741 GRCh37 Chromosome 1, 196621187: 196621187
25 CFH NM_000186.3(CFH): c.428-3C> T single nucleotide variant Uncertain significance rs886045744 GRCh38 Chromosome 1, 196677473: 196677473
26 CFH NM_000186.3(CFH): c.428-3C> T single nucleotide variant Uncertain significance rs886045744 GRCh37 Chromosome 1, 196646603: 196646603
27 CFH NM_000186.3(CFH): c.1949G> T (p.Gly650Val) single nucleotide variant Likely benign rs143237092 GRCh38 Chromosome 1, 196726545: 196726545
28 CFH NM_000186.3(CFH): c.1949G> T (p.Gly650Val) single nucleotide variant Likely benign rs143237092 GRCh37 Chromosome 1, 196695675: 196695675
29 CFH NM_000186.3(CFH): c.2016A> G (p.Gln672=) single nucleotide variant Benign rs3753396 GRCh38 Chromosome 1, 196726612: 196726612
30 CFH NM_000186.3(CFH): c.2016A> G (p.Gln672=) single nucleotide variant Benign rs3753396 GRCh37 Chromosome 1, 196695742: 196695742
31 CFH NM_000186.3(CFH): c.2236+8T> A single nucleotide variant Likely benign rs7537967 GRCh38 Chromosome 1, 196726948: 196726948
32 CFH NM_000186.3(CFH): c.2236+8T> A single nucleotide variant Likely benign rs7537967 GRCh37 Chromosome 1, 196696078: 196696078
33 CFH NM_000186.3(CFH): c.2808G> T (p.Glu936Asp) single nucleotide variant Benign rs1065489 GRCh38 Chromosome 1, 196740644: 196740644
34 CFH NM_000186.3(CFH): c.2808G> T (p.Glu936Asp) single nucleotide variant Benign rs1065489 GRCh37 Chromosome 1, 196709774: 196709774
35 CFH NM_000186.3(CFH): c.-175T> C single nucleotide variant Uncertain significance rs762143457 GRCh38 Chromosome 1, 196651943: 196651943
36 CFH NM_000186.3(CFH): c.-175T> C single nucleotide variant Uncertain significance rs762143457 GRCh37 Chromosome 1, 196621073: 196621073
37 CFH NM_000186.3(CFH): c.3050C> T (p.Thr1017Ile) single nucleotide variant Likely benign rs34362004 GRCh38 Chromosome 1, 196741968: 196741968
38 CFH NM_000186.3(CFH): c.3050C> T (p.Thr1017Ile) single nucleotide variant Likely benign rs34362004 GRCh37 Chromosome 1, 196711098: 196711098
39 CFH NM_000186.3(CFH): c.3133+8G> T single nucleotide variant Likely benign rs142718541 GRCh38 Chromosome 1, 196742059: 196742059
40 CFH NM_000186.3(CFH): c.3133+8G> T single nucleotide variant Likely benign rs142718541 GRCh37 Chromosome 1, 196711189: 196711189
41 CFH NM_000186.3(CFH): c.-79A> G single nucleotide variant Likely benign rs35906110 GRCh38 Chromosome 1, 196652039: 196652039
42 CFH NM_000186.3(CFH): c.-79A> G single nucleotide variant Likely benign rs35906110 GRCh37 Chromosome 1, 196621169: 196621169
43 CFH NM_000186.3(CFH): c.-36G> C single nucleotide variant Likely benign rs140356702 GRCh38 Chromosome 1, 196652082: 196652082
44 CFH NM_000186.3(CFH): c.-36G> C single nucleotide variant Likely benign rs140356702 GRCh37 Chromosome 1, 196621212: 196621212
45 CFH NM_000186.3(CFH): c.275C> T (p.Pro92Leu) single nucleotide variant Uncertain significance rs886045743 GRCh38 Chromosome 1, 196673887: 196673887
46 CFH NM_000186.3(CFH): c.275C> T (p.Pro92Leu) single nucleotide variant Uncertain significance rs886045743 GRCh37 Chromosome 1, 196643017: 196643017
47 CFH NM_000186.3(CFH): c.285T> C (p.Thr95=) single nucleotide variant Uncertain significance rs148182625 GRCh38 Chromosome 1, 196673897: 196673897
48 CFH NM_000186.3(CFH): c.285T> C (p.Thr95=) single nucleotide variant Uncertain significance rs148182625 GRCh37 Chromosome 1, 196643027: 196643027
49 CFH NM_000186.3(CFH): c.1160-15T> C single nucleotide variant Benign rs34815383 GRCh38 Chromosome 1, 196690048: 196690048
50 CFH NM_000186.3(CFH): c.1160-15T> C single nucleotide variant Benign rs34815383 GRCh37 Chromosome 1, 196659178: 196659178

Expression for Complement Factor H Deficiency

Search GEO for disease gene expression data for Complement Factor H Deficiency.

Pathways for Complement Factor H Deficiency

GO Terms for Complement Factor H Deficiency

Cellular components related to Complement Factor H Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 CFH CFHR1

Biological processes related to Complement Factor H Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 complement activation, classical pathway GO:0006958 9.26 CD46 CFI
2 complement activation GO:0006956 9.16 CFH CFHR1
3 innate immune response GO:0045087 9.13 CD46 CFH CFI
4 regulation of complement activation GO:0030449 8.92 CD46 CFH CFHR1 CFI

Sources for Complement Factor H Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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