MCID: GRN050
MIFTS: 32

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Categories: Genetic diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 57
Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 2 29 6
Chronic Granulomatous Disease Due to Deficiency of Ncf-2 57 13
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 75
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 75
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii 57
Granulomatous Disease, Chronic, Due to Ncf2 Deficiency 57
Neutrophil Cytosol Factor 2, Deficiency of 57
Deficiency of Neutrophil Cytosol Factor 2 75
Avellino Corneal Dystrophy 73
P67-Phox, Deficiency of 57
Ncf2, Deficiency of 57
P67-Phox Deficiency 75
Ncf2 Deficiency 75
Cdg2 57
Cgd2 75

Characteristics:

OMIM:

57
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:

32
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

UniProtKB/Swiss-Prot : 75 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii, also known as chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2, is related to corneal dystrophy, avellino type and chronic granulomatous disease, and has symptoms including glare - eye symptom An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii is NCF2 (Neutrophil Cytosolic Factor 2). Affiliated tissues include neutrophil, testes and skin, and related phenotypes are splenomegaly and hepatomegaly

Description from OMIM: 233710

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Diseases in the Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative family:

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 11.2
2 chronic granulomatous disease 10.2
3 osteomyelitis 9.9

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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 p67-phox protein (type ii)

Respiratory Lung:
pneumonia due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

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

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency


Clinical features from OMIM:

233710

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 osteomyelitis 32 HP:0002754
4 recurrent pneumonia 32 HP:0006532
5 cellulitis 32 HP:0100658
6 liver abscess 32 HP:0100523
7 lymphadenopathy 32 HP:0002716
8 recurrent bacterial skin infections 32 HP:0005406
9 granulomatosis 32 HP:0002955
10 recurrent aspergillus infections 32 HP:0002724
11 rectal abscess 32 HP:0005224
12 decreased activity of nadph oxidase 32 HP:0003206
13 lymphadenitis 32 HP:0002840
14 eczematoid dermatitis 32 HP:0000976
15 recurrent staphylococcus aureus infections 32 HP:0002726
16 discoid lupus rash 32 HP:0007417
17 absence of bactericidal oxidative respiratory burst in phagocytes 32 HP:0002723
18 recurrent e. coli infections 32 HP:0002740
19 recurrent serratia marcescens infections 32 HP:0002741
20 recurrent klebsiella infections 32 HP:0002742
21 recurrent burkholderia cepacia infections 32 HP:0002842
22 negative nitroblue tetrazolium reduction test 32 HP:0003203

UMLS symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:


glare - eye symptom

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 2 29 NCF2

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

41
Neutrophil, Testes, Skin, Liver, Eye

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

(show all 36)
# Title Authors Year
1
Sensitive Surface Enhanced Raman Scattering-Based Detection of a BIGH3 Point Mutation Associated with Avellino Corneal Dystrophy. ( 27934116 )
2016
2
Individual phenotypic variances in a family with Avellino corneal dystrophy. ( 23837658 )
2013
3
Sands of sahara after LASIK in avellino corneal dystrophy. ( 22606493 )
2012
4
TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. ( 22553661 )
2011
5
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of Avellino corneal dystrophy. ( 21617530 )
2011
6
An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree. ( 22194646 )
2011
7
Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population. ( 20455845 )
2010
8
Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy. ( 20202685 )
2010
9
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. ( 20458218 )
2010
10
Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature. ( 20724852 )
2010
11
Femtosecond-assisted lamellar keratoplasty in atypical Avellino corneal dystrophy of Indian origin. ( 19657278 )
2009
12
Heterozygous Avellino corneal dystrophy 9 years after photorefractive keratectomy: natural or laser-induced accelerated course? ( 19411970 )
2009
13
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. ( 19822856 )
2009
14
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. ( 19145249 )
2009
15
Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy. ( 19622345 )
2009
16
Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. ( 18465714 )
2008
17
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. ( 18290950 )
2008
18
Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK. ( 18269147 )
2008
19
Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis. ( 18243154 )
2008
20
Excimer laser exacerbation of Avellino corneal dystrophy. ( 17189809 )
2007
21
Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment. ( 17893542 )
2007
22
Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. ( 17096061 )
2007
23
Preserved peripheral corneal clarity after surgical trauma in patients with Avellino corneal dystrophy. ( 16670497 )
2006
24
Exacerbation of Avellino corneal dystrophy after LASIK in North America. ( 16670492 )
2006
25
Avellino corneal dystrophy exacerbated after LASIK: scanning electron microscopic findings. ( 16633031 )
2006
26
Effects of corneal neovascularization on the manifestations of Avellino corneal dystrophy (granular corneal dystrophy type II). ( 17102666 )
2006
27
[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. ( 16380889 )
2005
28
Avellino corneal dystrophy after LASIK. ( 15019320 )
2004
29
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman. ( 15059726 )
2004
30
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. ( 14767644 )
2004
31
Association of keratoconus and Avellino corneal dystrophy. ( 12598463 )
2003
32
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families. ( 12812879 )
2003
33
Exacerbation of Avellino corneal dystrophy after laser in situ keratomileusis. ( 11862101 )
2002
34
Alteration of the ocular surface with recurrence of granular/avellino corneal dystrophy after phototherapeutic keratectomy: report of five cases and literature review. ( 11297503 )
2001
35
Granular-lattice (Avellino) corneal dystrophy. ( 9838259 )
1999
36
Granular-lattice (Avellino) corneal dystrophy in Japanese patients. ( 9395872 )
1997

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 NCF2 p.Gly78Glu VAR_008904 rs137854519
2 NCF2 p.Arg77Gln VAR_017388 rs119103275
3 NCF2 p.Ala128Val VAR_017389 rs119103274
4 NCF2 p.Asn42Ser VAR_065002 rs137854514
5 NCF2 p.Gly44Cys VAR_065003 rs137854510
6 NCF2 p.Gly44Arg VAR_065004 rs137854510
7 NCF2 p.Asp93Glu VAR_065007 rs137854507
8 NCF2 p.Arg102Pro VAR_065009 rs137854515
9 NCF2 p.Asp108Val VAR_065010 rs137854509
10 NCF2 p.Trp137Arg VAR_065011 rs137854516
11 NCF2 p.Ala140Asp VAR_065012 rs137854520
12 NCF2 p.Gln169Glu VAR_065013 rs137854517
13 NCF2 p.Arg184Pro VAR_065014 rs137854518
14 NCF2 p.Ala202Val VAR_065016 rs137854508

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii:

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCF2 NM_000433.3(NCF2): c.399_400dupGA (p.Lys134Argfs) duplication Pathogenic rs796065030 GRCh37 Chromosome 1, 183543723: 183543724
2 NCF2 NM_000433.3(NCF2): c.399_400dupGA (p.Lys134Argfs) duplication Pathogenic rs796065030 GRCh38 Chromosome 1, 183574588: 183574589
3 NCF2 NM_000433.3(NCF2): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs374402066 GRCh37 Chromosome 1, 183546796: 183546796
4 NCF2 NM_000433.3(NCF2): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs374402066 GRCh38 Chromosome 1, 183577661: 183577661
5 NCF2 NM_000433.3(NCF2): c.1171_1175delAAGCT (p.Lys391Glufs) deletion Pathogenic rs796065031 GRCh37 Chromosome 1, 183532572: 183532576
6 NCF2 NM_000433.3(NCF2): c.1171_1175delAAGCT (p.Lys391Glufs) deletion Pathogenic rs796065031 GRCh38 Chromosome 1, 183563437: 183563441
7 NCF2 NM_000433.3(NCF2): c.366+1G> A single nucleotide variant Pathogenic rs796065032 GRCh37 Chromosome 1, 183546733: 183546733
8 NCF2 NM_000433.3(NCF2): c.366+1G> A single nucleotide variant Pathogenic rs796065032 GRCh38 Chromosome 1, 183577598: 183577598
9 NCF2 NM_000433.3(NCF2): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs119103276 GRCh37 Chromosome 1, 183546802: 183546802
10 NCF2 NM_000433.3(NCF2): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs119103276 GRCh38 Chromosome 1, 183577667: 183577667
11 NCF2 NM_000433.3(NCF2): c.55_63delAAGAAGGAC (p.Lys19_Asp21del) deletion Pathogenic rs796065033 GRCh37 Chromosome 1, 183559402: 183559410
12 NCF2 NM_000433.3(NCF2): c.55_63delAAGAAGGAC (p.Lys19_Asp21del) deletion Pathogenic rs796065033 GRCh38 Chromosome 1, 183590267: 183590275
13 NCF2 NM_000433.3(NCF2): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs119103274 GRCh37 Chromosome 1, 183543740: 183543740
14 NCF2 NM_000433.3(NCF2): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs119103274 GRCh38 Chromosome 1, 183574605: 183574605
15 NCF2 NM_000433.3(NCF2): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic rs119103275 GRCh37 Chromosome 1, 183556057: 183556057
16 NCF2 NM_000433.3(NCF2): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic rs119103275 GRCh38 Chromosome 1, 183586922: 183586922
17 NCF2 NM_000433.3(NCF2): c.605C> T (p.Ala202Val) single nucleotide variant Likely pathogenic rs137854508 GRCh37 Chromosome 1, 183542324: 183542324
18 NCF2 NM_000433.3(NCF2): c.605C> T (p.Ala202Val) single nucleotide variant Likely pathogenic rs137854508 GRCh38 Chromosome 1, 183573189: 183573189
19 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh37 Chromosome 1, 183542323: 183542323
20 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh38 Chromosome 1, 183573188: 183573188
21 NCF2 NM_000433.3(NCF2): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs755796920 GRCh37 Chromosome 1, 183542364: 183542364
22 NCF2 NM_000433.3(NCF2): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs755796920 GRCh38 Chromosome 1, 183573229: 183573229
23 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh37 Chromosome 1, 183532580: 183532580
24 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh38 Chromosome 1, 183563445: 183563445
25 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh37 Chromosome 1, 183533175: 183533175
26 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh38 Chromosome 1, 183564040: 183564040
27 NCF2 NM_000433.3(NCF2): c.1256A> T (p.Asn419Ile) single nucleotide variant Benign/Likely benign rs35012521 GRCh37 Chromosome 1, 183532364: 183532364
28 NCF2 NM_000433.3(NCF2): c.1256A> T (p.Asn419Ile) single nucleotide variant Benign/Likely benign rs35012521 GRCh38 Chromosome 1, 183563229: 183563229
29 NCF2 NM_000433.3(NCF2): c.890T> C (p.Val297Ala) single nucleotide variant Benign rs35937854 GRCh37 Chromosome 1, 183536089: 183536089
30 NCF2 NM_000433.3(NCF2): c.890T> C (p.Val297Ala) single nucleotide variant Benign rs35937854 GRCh38 Chromosome 1, 183566954: 183566954
31 NCF2 NM_000433.3(NCF2): c.1552G> C (p.Asp518His) single nucleotide variant Conflicting interpretations of pathogenicity rs143901397 GRCh38 Chromosome 1, 183556147: 183556147
32 NCF2 NM_000433.3(NCF2): c.1552G> C (p.Asp518His) single nucleotide variant Conflicting interpretations of pathogenicity rs143901397 GRCh37 Chromosome 1, 183525282: 183525282
33 NCF2 NM_000433.3(NCF2): c.1360C> T (p.Pro454Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs55761650 GRCh38 Chromosome 1, 183560204: 183560204
34 NCF2 NM_000433.3(NCF2): c.1360C> T (p.Pro454Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs55761650 GRCh37 Chromosome 1, 183529339: 183529339
35 NCF2 NM_000433.3(NCF2): c.174+8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs34009795 GRCh37 Chromosome 1, 183559283: 183559283
36 NCF2 NM_000433.3(NCF2): c.174+8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs34009795 GRCh38 Chromosome 1, 183590148: 183590148
37 NCF2 NM_000433.3(NCF2): c.1184G> A (p.Arg395Gln) single nucleotide variant Uncertain significance rs145229115 GRCh38 Chromosome 1, 183563301: 183563301
38 NCF2 NM_000433.3(NCF2): c.1184G> A (p.Arg395Gln) single nucleotide variant Uncertain significance rs145229115 GRCh37 Chromosome 1, 183532436: 183532436
39 NCF2 NM_000433.3(NCF2): c.359C> T (p.Ala120Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 183546741: 183546741
40 NCF2 NM_000433.3(NCF2): c.359C> T (p.Ala120Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 183577606: 183577606
41 NCF2 NM_000433.3(NCF2): c.1081A> T (p.Thr361Ser) single nucleotide variant Uncertain significance rs147744729 GRCh38 Chromosome 1, 183563531: 183563531
42 NCF2 NM_000433.3(NCF2): c.1081A> T (p.Thr361Ser) single nucleotide variant Uncertain significance rs147744729 GRCh37 Chromosome 1, 183532666: 183532666
43 NCF2 NM_000433.3(NCF2): c.1523A> G (p.Lys508Arg) single nucleotide variant Uncertain significance rs897063287 GRCh37 Chromosome 1, 183525311: 183525311
44 NCF2 NM_000433.3(NCF2): c.1523A> G (p.Lys508Arg) single nucleotide variant Uncertain significance rs897063287 GRCh38 Chromosome 1, 183556176: 183556176
45 NCF2 NC_000001.11: g.(?_183566900)_(183567365_?)dup duplication Pathogenic GRCh38 Chromosome 1, 183566900: 183567365
46 NCF2 NC_000001.11: g.(?_183566900)_(183567365_?)dup duplication Pathogenic GRCh37 Chromosome 1, 183536035: 183536500
47 NCF2 NM_000433.3(NCF2): c.93C> T (p.Ala31=) single nucleotide variant Likely benign rs143889676 GRCh37 Chromosome 1, 183559372: 183559372
48 NCF2 NM_000433.3(NCF2): c.93C> T (p.Ala31=) single nucleotide variant Likely benign rs143889676 GRCh38 Chromosome 1, 183590237: 183590237
49 NCF2 NM_000433.3(NCF2): c.693G> T (p.Pro231=) single nucleotide variant Likely benign GRCh38 Chromosome 1, 183569162: 183569162
50 NCF2 NM_000433.3(NCF2): c.693G> T (p.Pro231=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 183538297: 183538297

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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