GD 1
MCID: GCH003
MIFTS: 40

Gaucher Disease Type 1 (GD 1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases categories
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Summaries for Gaucher Disease Type 1

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NIH Rare Diseases:42 Gaucher disease type 1, also called non-neuronopathic gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected, is the most common form of gaucher disease. the features of this condition range from mild to severe and may appear anytime from childhood to adulthood.  the condition effects various body parts, primarily the liver, spleen, lungs, bone, and blood cells. gaucher disease is caused by mutations in the gba gene and is inherited in an autosomal recessive pattern. last updated: 2/9/2011

MalaCards based summary: Gaucher Disease Type 1, also known as acid beta-glucosidase deficiency, is related to gaucher's disease and joubert syndrome, and has symptoms including An important gene associated with Gaucher Disease Type 1 is GBA (glucosidase, beta, acid). Affiliated tissues include bone, brain and spleen.

Description from OMIM:46 230800

Aliases & Classifications for Gaucher Disease Type 1

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Sources:
65Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 46OMIM, 44Novoseek
See all sources

Gaucher Disease Type 1, Aliases & Descriptions:

Name: Gaucher Disease Type 1 65 42 20 22
Acid Beta-Glucosidase Deficiency 65 42 62
Non-Neuronopathic Gaucher Disease 65 62
Glucocerebrosidase Deficiency 42 62
Gaucher Disease, Type I 46 44
Gba Deficiency 65 42
 
Gaucher Disease, Noncerebral Juvenile 42
Gaucher's Disease, Type I 62
Gaucher Disease, Type 1 62
Type 1 Gaucher Disease 44
Gd 1 42


Classifications:



Related Diseases for Gaucher Disease Type 1

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Diseases in the Gaucher's Disease family:

gaucher disease type 1 Gaucher Disease Type 2
Pseudo-Gaucher Disease Gaucher Disease Type 3
Gaucher Disease, Type Iiic

Diseases related to Gaucher Disease Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher's disease10.5
2joubert syndrome10.3
3hydrocephalus10.3
4growth hormone deficiency10.2
5hypertension10.2
6osteonecrosis10.2
7osteoporosis10.2
8parkinson's disease10.2
9pulmonary hypertension10.2
10hepatopulmonary syndrome10.2
11pancytopenia10.2
12apraxia10.2
13aspergillosis10.2
14splenomegaly10.2

Graphical network of diseases related to Gaucher Disease Type 1:



Diseases related to gaucher disease type 1

Symptoms for Gaucher Disease Type 1

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Symptoms by clinical synopsis from OMIM:

230800

Clinical features from OMIM:

230800

HPO human phenotypes related to Gaucher Disease Type 1:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 epistaxis HP:0000421
3 abnormality of the eye HP:0000478
4 hyperpigmentation of the skin HP:0000953
5 splenomegaly HP:0001744
6 thrombocytopenia HP:0001873
7 pancytopenia HP:0001876
8 anemia HP:0001903
9 hypersplenism HP:0001971
10 pulmonary hypertension HP:0002092
11 dyspnea HP:0002094
12 pulmonary infiltrates HP:0002113
13 hepatomegaly HP:0002240
14 bone pain HP:0002653
15 pathologic fracture HP:0002756
16 vertebral compression fractures HP:0002953
17 erlenmeyer flask deformity of the femurs HP:0004975
18 interstitial pulmonary disease HP:0006530
19 multiple myeloma HP:0006775
20 aseptic necrosis HP:0010885

Drugs & Therapeutics for Gaucher Disease Type 1

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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Type 1

Search NIH Clinical Center for Gaucher Disease Type 1

Genetic Tests for Gaucher Disease Type 1

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Genetic tests related to Gaucher Disease Type 1:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 120
2 Gaucher's Disease, Type 122

Anatomical Context for Gaucher Disease Type 1

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MalaCards organs/tissues related to Gaucher Disease Type 1:

32
Bone, Brain, Spleen, Liver, Lung, Spinal cord, Bone marrow

Animal Models for Gaucher Disease Type 1 or affiliated genes

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Publications for Gaucher Disease Type 1

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Articles related to Gaucher Disease Type 1:

(show all 42)
idTitleAuthorsYear
1
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1. (24577513)
2014
2
Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4years of treatment. (24835462)
2014
3
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. (24816856)
2014
4
Clinical utility of different bone marrow examination methods in diagnosis of adults with sporadic Gaucher disease type 1. (25188399)
2014
5
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene. (23430552)
2013
6
Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1. (23828321)
2013
7
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. (23339116)
2013
8
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study. (22976766)
2013
9
A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. (24263462)
2013
10
Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. (20684885)
2011
11
Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia. (21883686)
2011
12
Coxarthritis as the presenting symptom of Gaucher disease type 1. (22046515)
2011
13
Velaglucerase alfa in the treatment of Gaucher disease type 1. (21927713)
2011
14
Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1. (20206881)
2010
15
The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). (20532983)
2010
16
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. (20439622)
2010
17
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. (20713962)
2010
18
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. (19265748)
2009
19
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. (19195916)
2009
20
Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. (19047232)
2008
21
Life expectancy in Gaucher disease type 1. (18980271)
2008
22
Review of miglustat for clinical management in Gaucher disease type 1. (18728838)
2008
23
Attitudes of couples identified through screening as carriers of Gaucher disease type 1. (18651845)
2008
24
Bone- and bone marrow scintigraphy in Gaucher disease type 1. (18763370)
2008
25
Neurological and brain MRS findings in patients with Gaucher disease type 1. (17560820)
2007
26
Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. (16996765)
2007
27
Radiology of Gaucher disease (type 1) and bone manifestations: the Dutch experience. (17274590)
2006
28
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. (15605411)
2005
29
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. (15468046)
2004
30
Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. (12556220)
2003
31
Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1. (12919144)
2003
32
Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. (10804944)
2000
33
Coexistence of Gaucher disease type 1 and Joubert syndrome. (10636737)
1999
34
Coexistence of Gaucher disease type 1 and Joubert syndrome. (9832051)
1998
35
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. (9207436)
1997
36
Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1. (8741312)
1996
37
Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. (8392397)
1993
38
Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations. (2324100)
1990
39
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. (2495719)
1989
40
Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. (3180993)
1988
41
Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. (4003396)
1985
42
Gaucher disease (type 1): physical and kinetic properties of liposomal and soluble 'acid' beta-glucosidase. (3921758)
1985

Variations for Gaucher Disease Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease Type 1:

64 (show all 143)
id Symbol AA change Variation ID SNP ID
1GBAp.Val54LeuVAR_003255
2GBAp.Phe76ValVAR_003256
3GBAp.Thr82IleVAR_003257
4GBAp.Gly85GluVAR_003258
5GBAp.Arg87TrpVAR_003259rs1141814
6GBAp.Lys118AsnVAR_003260
7GBAp.Gly152GluVAR_003261
8GBAp.Ile158ThrVAR_003262
9GBAp.Arg159GlnVAR_003263
10GBAp.Arg159TrpVAR_003264
11GBAp.Pro161SerVAR_003265
12GBAp.Thr173ProVAR_003266
13GBAp.Asp179HisVAR_003267
14GBAp.Lys196GlnVAR_003268
15GBAp.Arg209ProVAR_003269
16GBAp.Ala215AspVAR_003270
17GBAp.Pro217SerVAR_003271
18GBAp.Pro221ThrVAR_003272
19GBAp.Trp223ArgVAR_003273
20GBAp.Asn227SerVAR_003274rs364897
21GBAp.Asn227LysVAR_003275rs381418
22GBAp.Val230GlyVAR_003276rs381427
23GBAp.Gly234GluVAR_003277
24GBAp.Ser235ProVAR_003278rs1064644
25GBAp.Gly241ArgVAR_003279
26GBAp.Tyr251HisVAR_003280
27GBAp.Phe252IleVAR_003281rs381737
28GBAp.Phe255TyrVAR_003282
29GBAp.Ser276ProVAR_003283
30GBAp.Arg296GlnVAR_003284
31GBAp.Pro305ArgVAR_003285
32GBAp.Arg324CysVAR_003286
33GBAp.Pro328LeuVAR_003287
34GBAp.Lys342IleVAR_003288
35GBAp.Ala348ValVAR_003289
36GBAp.Trp351CysVAR_003290
37GBAp.Tyr352HisVAR_003291
38GBAp.Asp354HisVAR_003292
39GBAp.Ala357AspVAR_003293
40GBAp.Thr362IleVAR_003294
41GBAp.Leu363ProVAR_003295
42GBAp.Gly364ArgVAR_003296
43GBAp.Glu365LysVAR_003297rs2230288
44GBAp.Cys381GlyVAR_003298
45GBAp.Arg398GlnVAR_003299
46GBAp.Ser403ThrVAR_003300
47GBAp.Thr408MetVAR_003301rs2230289
48GBAp.Asn409SerVAR_003302rs76763715
49GBAp.Gly416SerVAR_003303
50GBAp.Trp417GlyVAR_003304
51GBAp.Asp419AlaVAR_003305
52GBAp.Asp419AsnVAR_003306
53GBAp.Gly428GluVAR_003307
54GBAp.Pro430LeuVAR_003308
55GBAp.Asn431IleVAR_003309
56GBAp.Val433LeuVAR_003310
57GBAp.Asn435ThrVAR_003311
58GBAp.Asp438AsnVAR_003312
59GBAp.Asp448HisVAR_003313rs1064651
60GBAp.Asp448ValVAR_003314
61GBAp.Tyr451HisVAR_003315
62GBAp.Pro454ArgVAR_003316
63GBAp.Phe456ValVAR_003317
64GBAp.Tyr457CysVAR_003318
65GBAp.Lys464GluVAR_003319
66GBAp.Leu483ArgVAR_003320
67GBAp.Leu483ProVAR_003321
68GBAp.Ala485ProVAR_003322
69GBAp.Ala495ProVAR_003323rs368060
70GBAp.Arg502CysVAR_003324
71GBAp.Gly517SerVAR_003326
72GBAp.Arg535CysVAR_003327
73GBAp.Arg535HisVAR_003328
74GBAp.Ser146LeuVAR_009034
75GBAp.Arg170CysVAR_009035
76GBAp.Arg170LeuVAR_009036
77GBAp.Pro198LeuVAR_009037
78GBAp.Ala229GluVAR_009038
79GBAp.Gly234TrpVAR_009039
80GBAp.His294GlnVAR_009040
81GBAp.Phe298LeuVAR_009041
82GBAp.Arg324HisVAR_009042
83GBAp.Tyr343CysVAR_009043
84GBAp.Ala380ThrVAR_009045
85GBAp.Ser405AsnVAR_009046
86GBAp.Trp432ArgVAR_009047
87GBAp.Asn501LysVAR_009049
88GBAp.Ile200SerVAR_010059
89GBAp.Gly228ValVAR_010060
90GBAp.Gly241GluVAR_010061
91GBAp.Tyr244CysVAR_010062
92GBAp.Gly304AspVAR_010063
93GBAp.Ser310AsnVAR_010064
94GBAp.Val391LeuVAR_010065
95GBAp.Arg392GlyVAR_010066
96GBAp.Ser405GlyVAR_010067
97GBAp.Val414LeuVAR_010068
98GBAp.Pro426LeuVAR_010069
99GBAp.Pro440LeuVAR_010071
100GBAp.Ile441ThrVAR_010072
101GBAp.Phe450IleVAR_010073
102GBAp.Lys452GlnVAR_010074
103GBAp.Arg87GlnVAR_032197
104GBAp.Pro161LeuVAR_032198
105GBAp.Met162ValVAR_032199
106GBAp.Asp166ValVAR_032200
107GBAp.Ile200AsnVAR_032201
108GBAp.Leu213PheVAR_032202
109GBAp.Leu224PheVAR_032203
110GBAp.Gly232GluVAR_032204
111GBAp.Lys237GluVAR_032205
112GBAp.Leu303IleVAR_032206
113GBAp.Glu388LysVAR_032207
114GBAp.Arg392TrpVAR_032208
115GBAp.Tyr402CysVAR_032209
116GBAp.Leu410ValVAR_032210
117GBAp.Asp419HisVAR_032211
118GBAp.Asn421LysVAR_032212
119GBAp.Gly429ArgVAR_032213
120GBAp.Phe436SerVAR_032214
121GBAp.Met455ValVAR_032215
122GBAp.Leu500ProVAR_032216
123GBAp.Arg502ProVAR_032217
124GBAp.Cys55SerVAR_032394
125GBAp.Asp63AsnVAR_032395
126GBAp.Ala129ThrVAR_032397
127GBAp.Asn156AspVAR_032398
128GBAp.Ile158SerVAR_032399
129GBAp.Thr173IleVAR_032400
130GBAp.Ala175GluVAR_032401
131GBAp.Pro198ThrVAR_032402
132GBAp.His201ProVAR_032403
133GBAp.Arg209CysVAR_032404
134GBAp.Pro221LeuVAR_032405
135GBAp.Ala229ThrVAR_032406
136GBAp.Val230GluVAR_032407
137GBAp.Thr270ArgVAR_032408
138GBAp.Phe290LeuVAR_032409
139GBAp.Met400IleVAR_032412rs149487315
140GBAp.Asp438TyrVAR_032413
141GBAp.Ile441PheVAR_032414
142GBAp.Gly460AspVAR_032415
143GBAp.His490ArgVAR_032416

Clinvar genetic disease variations for Gaucher Disease Type 1:

6 (show all 36)
id Gene Name Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenicrs76763715GRCh37Chr 1, 155205634: 155205634
3GBANM_001005741.2(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
4GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
5GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
6GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenicrs80356771GRCh37Chr 1, 155204987: 155204987
7GBANM_001005741.2(GBA): c.254G> A (p.Gly85Glu)single nucleotide variantPathogenicrs77829017GRCh37Chr 1, 155209730: 155209730
8GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043
9GBANM_001005741.2(GBA): c.764T> A (p.Phe255Tyr)single nucleotide variantPathogenicrs74500255GRCh37Chr 1, 155207367: 155207367
10GBANM_001005741.2(GBA): c.535G> C (p.Asp179His)single nucleotide variantPathogenicrs147138516GRCh37Chr 1, 155208361: 155208361
11GBANM_001005741.2(GBA): c.586A> C (p.Lys196Gln)single nucleotide variantPathogenicrs121908297GRCh37Chr 1, 155208310: 155208310
12GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
13GBANM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18)duplicationPathogenicrs387906315GRCh37Chr 1, 155210451: 155210452
14GBANM_001005741.2(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
15GBANM_001005741.2(GBA): c.983C> T (p.Pro328Leu)single nucleotide variantPathogenicrs121908298GRCh37Chr 1, 155207148: 155207148
16GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
17GBANM_001005741.2(GBA): c.72delC (p.Leu25Serfs)deletionPathogenicrs397518433GRCh37Chr 1, 155210464: 155210464
18GBANM_001005741.2(GBA): c.481C> T (p.Pro161Ser)single nucleotide variantPathogenicrs121908299GRCh37Chr 1, 155208415: 155208415
19GBANM_001005741.2(GBA): c.751T> C (p.Tyr251His)single nucleotide variantPathogenicrs121908300GRCh37Chr 1, 155207935: 155207935
20GBANM_001005741.2(GBA): c.1549G> A (p.Gly517Ser)single nucleotide variantPathogenicrs121908301GRCh37Chr 1, 155204848: 155204848
21GBANM_001005741.2(GBA): c.1604G> A (p.Arg535His)single nucleotide variantPathogenicrs80356773GRCh37Chr 1, 155204793: 155204793
22GBANM_001005741.2(GBA): c.1263_1317del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205543: 155205597
23GBANM_001005741.2(GBA): c.160G> T (p.Val54Leu)single nucleotide variantPathogenicrs121908302GRCh37Chr 1, 155209824: 155209824
24GBANM_001005741.2(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenicrs364897GRCh37Chr 1, 155208006: 155208006
25GBANM_001005741.2(GBA): c.763T> G (p.Phe255Val)single nucleotide variantPathogenicrs121908303GRCh37Chr 1, 155207368: 155207368
26GBANM_001005741.2(GBA): c.1043C> T (p.Ala348Val)single nucleotide variantPathogenicrs78396650GRCh37Chr 1, 155206217: 155206217
27GBANM_001005741.2(GBA): c.1053G> T (p.Trp351Cys)single nucleotide variantPathogenicrs121908304GRCh37Chr 1, 155206207: 155206207
28GBANM_001005741.2(GBA): c.1208G> C (p.Ser403Thr)single nucleotide variantPathogenicrs121908307GRCh37Chr 1, 155206052: 155206052
29GBANM_001005741.2(GBA): c.259C> T (p.Arg87Trp)single nucleotide variantPathogenicrs1141814GRCh37Chr 1, 155209725: 155209725
30GBANM_001005741.2(GBA): c.1319C> T (p.Pro440Leu)single nucleotide variantPathogenicrs74598136GRCh37Chr 1, 155205541: 155205541
31GBANM_001005741.2(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
32GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
33GBANM_001005741.2(GBA): c.1228C> G (p.Leu410Val)single nucleotide variantPathogenicrs121908314GRCh37Chr 1, 155205632: 155205632
34GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
35GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantPathogenicrs368060GRCh37Chr 1, 155205008: 155205008
36GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantPathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease Type 1

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Expression patterns in normal tissues for genes affiliated with Gaucher Disease Type 1

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Pathways for genes affiliated with Gaucher Disease Type 1

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Compounds for genes affiliated with Gaucher Disease Type 1

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GO Terms for genes affiliated with Gaucher Disease Type 1

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Products for genes affiliated with Gaucher Disease Type 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Gaucher Disease Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet