CGD1
MCID: GRN062
MIFTS: 46

Granulomatous Disease, Chronic, Autosomal Recessive, 1 (CGD1)

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, 1

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 1:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, 1 57
Chronic Granulomatous Disease Due to Deficiency of Ncf-1 12 29 13 6
Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 1 29 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I 12 15
Deficiency of Neutrophil Cytosol Factor 1 12 73
Soluble Oxidase Component Ii Deficiency 57 73
P47-Phox Deficiency 57 73
Ncf1 Deficiency 57 73
Soc2 Deficiency 57 73
Cgd1 57 73
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 57
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I 73
Granulomatous Disease, Chronic, Cytochrome-B-Positive 1, Autosomal Recessive 73
Cgd, Autosomal Recessive Cytochrome B-Positive, Type I 57
Granulomatous Disease, Chronic, Due to Ncf1 Deficiency 57
Chronic Granulomatous Disease 1, Autosomal Recessive 57
Chronic Granulomatous Disease Due to Ncf1 Deficiency 73
Autosomal Recessive Chronic Granulomatous Disease 1 12
Deficiency of Soluble Oxidase Component Ii 12
Neutrophil Cytosol Factor 1 Deficiency 57
Deficiency of P47-Phox 12
Deficiency of Ncf1 12
Deficiency of Soc2 12
Cdg1 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in first decade
four types of cgd with basically identical clinical phenotypes
x-linked recessive cytochrome b-negative cgd
autosomal recessive cytochrome b-positive cgd, type i
autosomal recessive cytochrome b-positive cgd, type ii
autosomal recessive cytochrome b-negative cgd


HPO:

31
granulomatous disease, chronic, autosomal recessive, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, 1

UniProtKB/Swiss-Prot : 73 Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 1, also known as chronic granulomatous disease due to deficiency of ncf-1, is related to congenital disorder of glycosylation, type ia and chronic granulomatous disease. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 1 is NCF1 (Neutrophil Cytosolic Factor 1), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Affiliated tissues include neutrophil, liver and b lymphoblasts, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the NCF1 gene on chromosome 7q11.23.

More information from OMIM: 233700 PS306400

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Diseases in the Chronic Granulomatous Disease family:

Granulomatous Disease, Chronic, Autosomal Recessive, 4 Granulomatous Disease, Chronic, Autosomal Recessive, 1
Granulomatous Disease, Chronic, Autosomal Recessive, 2 Granulomatous Disease, Chronic, Autosomal Recessive, 3
Granulomatous Disease, Chronic, Autosomal Recessive, 5

Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ia 30.7 PMM2 PMM1
2 chronic granulomatous disease 30.3 PMM2 NCF2 NCF1 LOC106029312 CYBB CYBA
3 congenital disorder of glycosylation, type in 29.9 STT3B STT3A PMM2 PMM1 ALG3
4 muscular dystrophy-dystroglycanopathy , type c, 15 11.0
5 granulomatous disease, chronic, autosomal recessive, 3 10.2 PMM2 LOC106029312 ALG3
6 retinitis pigmentosa 47 10.2 NCF2 NCF1
7 capgras syndrome 10.2 PRH2 PRH1
8 suppurative lymphadenitis 10.2 NCF2 NCF1 CYBB
9 lung abscess 10.2 NCF2 NCF1 CYBA
10 47,xyy 10.1
11 congenital disorder of glycosylation, type iia 10.1 PMM2 ALG3
12 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.1 STT3B KRTCAP2
13 granulomatous disease, chronic, autosomal recessive, 4 10.1 NCF2 NCF1 CYBB CYBA
14 granulomatous disease, chronic, x-linked 10.1 NCF2 NCF1 CYBB CYBA
15 congenital disorder of glycosylation, type iin 10.1 PMM2 OST4 KRTCAP2
16 immunodeficiency 47 10.1 STT3B STT3A PMM2 ALG3
17 ectodermal dysplasia 10.0 NCF2 NCF1 CYBB CYBA
18 abdominal obesity-metabolic syndrome 1 9.9
19 phagocyte bactericidal dysfunction 9.9 PMM2 NCF2 NCF1 CYBB CYBA ALG3
20 granulomatous disease, chronic, autosomal recessive, 2 9.9 PMM2 OST4 NCF2 CPLANE2 ALG3
21 nemaline myopathy 1 9.8 PMM1 ISYNA1
22 autosomal recessive non-syndromic intellectual disability 9.7 STT3B STT3A RPN2 RPN1 OST4 KRTCAP2

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 1:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 1

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 1:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 immunodeficiency 31 HP:0002721
4 cellulitis 31 HP:0100658
5 osteomyelitis 31 HP:0002754
6 recurrent pneumonia 31 HP:0006532
7 liver abscess 31 HP:0100523
8 recurrent bacterial skin infections 31 HP:0005406
9 lymphadenopathy 31 HP:0002716
10 granulomatosis 31 HP:0002955
11 recurrent staphylococcus aureus infections 31 HP:0002726
12 eczematoid dermatitis 31 HP:0000976
13 recurrent aspergillus infections 31 HP:0002724
14 rectal abscess 31 HP:0005224
15 lymphadenitis 31 HP:0002840
16 decreased activity of nadph oxidase 31 HP:0003206
17 discoid lupus rash 31 HP:0007417
18 absence of bactericidal oxidative respiratory burst in phagocytes 31 HP:0002723
19 recurrent e. coli infections 31 HP:0002740
20 recurrent serratia marcescens infections 31 HP:0002741
21 recurrent klebsiella infections 31 HP:0002742
22 recurrent burkholderia cepacia infections 31 HP:0002842
23 impaired oxidative burst 31 HP:0003203

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
Laboratory Abnormalities:
decreased activity of nadph oxidase
negative nitroblue tetrazolium (nbt) reduction test
presence of cytochrome b(-245)
deficiency or absence of p47-phox protein (type i)

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Skin Nails Hair Skin:
eczematoid dermatitis
dermatitis, infectious, due to immunodeficiency impetigo
discoid lupus in carriers or adults with mild disease

Respiratory Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Clinical features from OMIM®:

233700 (Updated 05-Mar-2021)

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, 1:

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 1 29 NCF1
2 Chronic Granulomatous Disease Due to Deficiency of Ncf-1 29

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, 1

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 1:

40
Neutrophil, Liver, B Lymphoblasts

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 1:

(show all 40)
# Title Authors PMID Year
1
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase. 57 6
16972229 2006
2
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. 57 6
11133775 2001
3
Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. 6 57
10706888 2000
4
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease. 6 57
9329953 1997
5
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. 57 6
7678602 1993
6
Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. 6 57
2011585 1991
7
Chronic granulomatous disease: studies of a family with impaired neutrophil chemotactic, metabolic and bactericidal function. 6 57
742630 1978
8
Bacillus calmette-guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation. 57
25188296 2014
9
A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation. 57
19329991 2009
10
Defective tryptophan catabolism underlies inflammation in mouse chronic granulomatous disease. 57
18185592 2008
11
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. 57
16937026 2006
12
The PX domains of p47phox and p40phox bind to lipid products of PI(3)K. 6
11433300 2001
13
Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. 57
11060536 2000
14
Enhanced host defense after gene transfer in the murine p47phox-deficient model of chronic granulomatous disease. 57
9116268 1997
15
The p47phox mouse knock-out model of chronic granulomatous disease. 57
7650482 1995
16
Chronic granulomatous disease and glutathione peroxidase deficiency, revisited. 57
7949143 1994
17
Peripheral blood progenitors as a target for genetic correction of p47phox-deficient chronic granulomatous disease. 57
8395049 1993
18
Autosomal recessive chronic granulomatous disease associated with 18q-syndrome and end-stage renal failure due to Henoch-Schönlein nephritis. 57
2044603 1991
19
Characterization of the 47-kilodalton autosomal chronic granulomatous disease protein: tissue-specific expression and transcriptional control by retinoic acid. 57
2398896 1990
20
Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. 57
2770793 1989
21
A phosphoprotein of Mr 47,000, defective in autosomal chronic granulomatous disease, copurifies with one of two soluble components required for NADPH:O2 oxidoreductase activity in human neutrophils. 57
2537848 1989
22
Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. 57
2848318 1988
23
Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors. 57
2848319 1988
24
The molecular and cellular pathology of chronic granulomatous disease. 57
2852593 1988
25
Coregulation of NADPH oxidase activation and phosphorylation of a 48-kD protein(s) by a cytosolic factor defective in autosomal recessive chronic granulomatous disease. 57
3366903 1988
26
Chronic granulomatous disease due to a defect in the cytosolic factor required for nicotinamide adenine dinucleotide phosphate oxidase activation. 57
3339133 1988
27
A study of 25 patients with chronic granulomatous disease: a new classification by correlating respiratory burst, cytochrome b, and flavoprotein. 57
3011845 1986
28
Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein. 57
4033752 1985
29
Variations on the theme of chronic granulomatous disease. 57
2861323 1985
30
Complementation in monocyte hybrids revealing genetic heterogeneity in chronic granulomatous disease. 57
6320013 1984
31
Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance. 57
6848934 1983
32
Steps toward an understanding of chronic granulomatous disease. 57
6848940 1983
33
Chronic granulomatous disease with leukocytic glucose-6-phosphate dehydrogenase deficiency in a 28-month-old girl. 57
696690 1978
34
Leukocyte glutathione peroxidase deficiency in a male patient with chronic granulomatous disease. 57
1255315 1976
35
Inheritance of chronic granulomatous disease in females. Report of a female patient and the leucocyte function studies in the family. 57
4587801 1973
36
Chronic granulomatous disease in females. 57
4393202 1970
37
Chronic granulomatous disease in three female siblings. 57
5755008 1968
38
Defective polymorphonuclear-leukocyte function and chronic granulomatous disease in two female children. 57
4868715 1968
39
Virulence and cellular interactions of Burkholderia multivorans in chronic granulomatous disease. 61
19635825 2009
40
Herpes simplex virus glycoprotein D is recognized as antigen by CD4+ and CD8+ T lymphocytes from infected mice. Characterization of T cell clones. 61
1973187 1990

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, 1

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 1:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOC106029312 NM_000265.6(NCF1):c.125G>A (p.Arg42Gln) SNV Pathogenic 2251 rs119103270 7:74191665-74191665 7:74777319-74777319
2 LOC106029312 NM_000265.6(NCF1):c.811del (p.Val271fs) Deletion Pathogenic 2252 rs1307080411 7:74202338-74202338 7:74787994-74787994
3 LOC106029312 NM_000265.6(NCF1):c.271C>T (p.Gln91Ter) SNV Pathogenic 2253 rs119103271 7:74193644-74193644 7:74779298-74779298
4 LOC106029312 NM_000265.6(NCF1):c.333T>A (p.Cys111Ter) SNV Pathogenic 2254 rs119103272 7:74193706-74193706 7:74779360-74779360
5 LOC106029312 NM_000265.6(NCF1):c.574G>A (p.Gly192Ser) SNV Pathogenic 2255 rs119103273 7:74197404-74197404 7:74783061-74783061
6 LOC106029312 NM_000265.6(NCF1):c.502del (p.Glu168fs) Deletion Pathogenic 2250 rs1563003964 7:74197332-74197332 7:74782989-74782989
7 LOC106029312 NM_000265.6(NCF1):c.73_74GT[1] (p.Tyr26fs) Microsatellite Pathogenic 2249 rs4029402 7:74191613-74191614 7:74777267-74777268
8 LOC106029312 NM_000265.6(NCF1):c.579G>A (p.Trp193Ter) SNV Pathogenic 426990 rs145360423 7:74197872-74197872 7:74783529-74783529
9 LOC106029312 NM_000265.6(NCF1):c.579G>A (p.Trp193Ter) SNV Pathogenic 426990 rs145360423 7:74197872-74197872 7:74783529-74783529
10 LOC106029312 NM_000265.6(NCF1):c.124C>T (p.Arg42Trp) SNV Pathogenic 636577 rs782800778 7:74191664-74191664 7:74777318-74777318
11 LOC106029312 NM_000265.6(NCF1):c.108G>A (p.Ser36=) SNV Uncertain significance 625985 rs146173318 7:74191648-74191648 7:74777302-74777302
12 LOC106029312 NM_000265.6(NCF1):c.923C>T (p.Ala308Val) SNV Likely benign 973652 7:74202920-74202920 7:74788576-74788576

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 1:

73
# Symbol AA change Variation ID SNP ID
1 NCF1 p.Arg42Gln VAR_012476 rs119103270

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 1.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 STT3A RPN2 RPN1 PMM2 PMM1 ALG3
2
Show member pathways
12.44 NCF2 NCF1 CYBB CYBA
3
Show member pathways
12.27 NCF2 NCF1 CYBB CYBA
4
Show member pathways
12.26 NCF2 NCF1 CYBB CYBA
5
Show member pathways
12.14 NCF2 NCF1 CYBB CYBA
6
Show member pathways
12.03 NCF2 NCF1 CYBB CYBA
7 11.97 STT3B STT3A RPN2 RPN1
8 11.87 NCF2 NCF1 CYBA
9 11.85 NCF2 NCF1 CYBB CYBA
10 11.82 NCF2 NCF1 CYBA
11 11.81 NCF2 NCF1 CYBB CYBA
12
Show member pathways
11.59 NCF2 NCF1 CYBB CYBA
13
Show member pathways
11.36 STT3B STT3A RPN2 RPN1 ALG3
14
Show member pathways
11.33 STT3B STT3A RPN2 RPN1
15
Show member pathways
11.2 NCF2 NCF1 CYBB CYBA
16 10.04 NCF2 NCF1 CYBB CYBA

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, 1

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 10.01 STT3B STT3A RPN2 RPN1 OST4 KRTCAP2
2 endoplasmic reticulum membrane GO:0005789 9.81 STT3B STT3A RPN2 RPN1 OST4 KRTCAP2
3 neuronal cell body GO:0043025 9.77 PMM2 PMM1 NCF1 CYBB CYBA
4 rough endoplasmic reticulum GO:0005791 9.56 RPN2 RPN1 NCF1 CYBB
5 perinuclear endoplasmic reticulum GO:0097038 9.43 CYBB CYBA
6 phagolysosome GO:0032010 9.32 NCF2 NCF1
7 NADPH oxidase complex GO:0043020 9.26 NCF2 NCF1 CYBB CYBA
8 oligosaccharyltransferase complex GO:0008250 9.1 STT3B STT3A RPN2 RPN1 OST4 KRTCAP2

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.8 NCF2 NCF1 CYBB CYBA
2 electron transport chain GO:0022900 9.78 NCF2 NCF1 CYBB CYBA
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.76 NCF2 NCF1 CYBB CYBA
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.73 NCF2 NCF1 CYBB CYBA
5 cell redox homeostasis GO:0045454 9.71 NCF2 NCF1 CYBB CYBA
6 superoxide metabolic process GO:0006801 9.67 NCF2 NCF1 CYBB CYBA
7 superoxide anion generation GO:0042554 9.62 NCF2 NCF1 CYBB CYBA
8 protein targeting to ER GO:0045047 9.58 PMM2 PMM1
9 regulation of mRNA processing GO:0050684 9.58 SUPT6H IWS1
10 mannose metabolic process GO:0006013 9.57 PMM2 PMM1
11 regulation of mRNA export from nucleus GO:0010793 9.56 SUPT6H IWS1
12 respiratory burst GO:0045730 9.56 NCF2 NCF1 CYBB CYBA
13 protein glycosylation GO:0006486 9.56 STT3B STT3A RPN2 RPN1 PMM2 OST4
14 GDP-mannose biosynthetic process GO:0009298 9.55 PMM2 PMM1
15 protein N-linked glycosylation via asparagine GO:0018279 9.55 STT3B STT3A RPN2 RPN1 OST4
16 cellular response to L-glutamine GO:1904845 9.54 CYBB CYBA
17 response to aldosterone GO:1904044 9.52 CYBB CYBA
18 co-translational protein modification GO:0043686 9.51 STT3B STT3A
19 protein N-linked glycosylation GO:0006487 9.17 STT3B STT3A RPN2 RPN1 PMM2 PMM1

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.58 PMM2 PMM1 ISYNA1
2 electron transfer activity GO:0009055 9.46 NCF2 NCF1 CYBB CYBA
3 superoxide-generating NADPH oxidase activator activity GO:0016176 9.37 NCF2 NCF1
4 oligosaccharyl transferase activity GO:0004576 9.32 STT3B STT3A
5 phosphomannomutase activity GO:0004615 9.26 PMM2 PMM1
6 superoxide-generating NADPH oxidase activity GO:0016175 9.26 NCF2 NCF1 CYBB CYBA
7 dolichyl-diphosphooligosaccharide-protein glycotransferase activity GO:0004579 8.92 STT3B STT3A RPN2 RPN1

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, 1

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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