MCID: GCH015
MIFTS: 46

Gaucher Disease, Type I malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases categories

Aliases & Classifications for Gaucher Disease, Type I

About this section
Sources:
45OMIM, 63Wikipedia, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Gaucher Disease, Type I, Aliases & Descriptions:

Name: Gaucher Disease, Type I 45 43
Gaucher Disease Type 1 63 41 20 47
Non-Cerebral Juvenile Gaucher Disease 41 47
Acid Beta-Glucosidase Deficiency 63 41
Type 1 Gaucher Disease 43 22
Gba Deficiency 63 41
 
Gaucher Disease, Noncerebral Juvenile 41
Non-Neuronopathic Gaucher Disease 63
Glucocerebrosidase Deficiency 41
Gaucher Disease, Type 1 60
Gaucher Disease 60
Gd 1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
gaucher disease type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages


External Ids:

OMIM45 230800
Orphanet47 77259
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C1961835

Summaries for Gaucher Disease, Type I

About this section


OMIM:45 Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of... (230800) more...

MalaCards based summary: Gaucher Disease, Type I, also known as gaucher disease type 1, is related to gaucher's disease and splenomegaly, and has symptoms including abnormality of the genital system, splenomegaly and thrombocytopenia. An important gene associated with Gaucher Disease, Type I is GBA (glucosidase, beta, acid), and among its related pathways is Lysosome. The compounds miglustat and glucosylceramide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and lung.

NIH Rare Diseases:41 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

Related Diseases for Gaucher Disease, Type I

About this section

Graphical network of diseases related to Gaucher Disease, Type I:



Diseases related to gaucher disease, type i

Symptoms for Gaucher Disease, Type I

About this section

Symptoms by clinical synopsis from OMIM:

230800

Clinical features from OMIM:

230800

Symptoms:

 47 (show all 35)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • late puberty/hypogonadism/hypogenitalism
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteosclerosis/osteopetrosis/bone condensation
  • mutiple fractures/bone fragility
  • delayed bone age
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteonecrosis/bone infarction
  • bone pain
  • thrombocytopenia/thrombopenia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • asthenia/fatigue/weakness
  • kyphosis
  • acute abdominal pain/colic
  • bruisability
  • bone marrow failure/pancytopenia
  • anaemia
  • gingivorrhagia/gingival bleeding
  • ascitis
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • cirrhosis
  • hepatitis/icterus/cholestasis
  • pulmonary hypertension
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • myocardium anomalies/myocarditis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • edema of the legs/lower limbs
  • proteinuria
  • hematuria/microhematuria
  • osteoarthritis
  • hypergammaglobulinemia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • leukopenia/hypoleukocytosis

HPO human phenotypes related to Gaucher Disease, Type I:

(show all 51)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 splenomegaly hallmark (90%) HP:0001744
3 thrombocytopenia hallmark (90%) HP:0001873
4 hepatomegaly hallmark (90%) HP:0002240
5 bone pain hallmark (90%) HP:0002653
6 delayed skeletal maturation hallmark (90%) HP:0002750
7 recurrent fractures hallmark (90%) HP:0002757
8 osteolysis hallmark (90%) HP:0002797
9 reduced bone mineral density hallmark (90%) HP:0004349
10 aseptic necrosis hallmark (90%) HP:0010885
11 increased bone mineral density hallmark (90%) HP:0011001
12 gingival bleeding typical (50%) HP:0000225
13 bruising susceptibility typical (50%) HP:0000978
14 anemia typical (50%) HP:0001903
15 abdominal pain typical (50%) HP:0002027
16 kyphosis typical (50%) HP:0002808
17 bone marrow hypocellularity typical (50%) HP:0005528
18 proteinuria occasional (7.5%) HP:0000093
19 hematuria occasional (7.5%) HP:0000790
20 biliary tract abnormality occasional (7.5%) HP:0001080
21 cirrhosis occasional (7.5%) HP:0001394
22 ascites occasional (7.5%) HP:0001541
23 abnormality of the myocardium occasional (7.5%) HP:0001637
24 sudden cardiac death occasional (7.5%) HP:0001645
25 abnormality of the pericardium occasional (7.5%) HP:0001697
26 leukopenia occasional (7.5%) HP:0001882
27 restrictive lung disease occasional (7.5%) HP:0002091
28 pulmonary hypertension occasional (7.5%) HP:0002092
29 osteoarthritis occasional (7.5%) HP:0002758
30 hypergammaglobulinemia occasional (7.5%) HP:0010702
31 edema of the lower limbs occasional (7.5%) HP:0010741
32 autosomal recessive inheritance HP:0000007
33 epistaxis HP:0000421
34 abnormality of the eye HP:0000478
35 hyperpigmentation of the skin HP:0000953
36 splenomegaly HP:0001744
37 thrombocytopenia HP:0001873
38 pancytopenia HP:0001876
39 anemia HP:0001903
40 hypersplenism HP:0001971
41 pulmonary hypertension HP:0002092
42 dyspnea HP:0002094
43 pulmonary infiltrates HP:0002113
44 hepatomegaly HP:0002240
45 bone pain HP:0002653
46 pathologic fracture HP:0002756
47 vertebral compression fractures HP:0002953
48 erlenmeyer flask deformity of the femurs HP:0004975
49 interstitial pulmonary disease HP:0006530
50 multiple myeloma HP:0006775
51 aseptic necrosis HP:0010885

Drugs & Therapeutics for Gaucher Disease, Type I

About this section

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Type I

Search NIH Clinical Center for Gaucher Disease, Type I

Genetic Tests for Gaucher Disease, Type I

About this section

Genetic tests related to Gaucher Disease, Type I:

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

Anatomical Context for Gaucher Disease, Type I

About this section

MalaCards organs/tissues related to Gaucher Disease, Type I:

31
Bone, Liver, Lung, Spleen, Brain, Spinal cord, Bone marrow, Eye, Skin

Animal Models for Gaucher Disease, Type I or affiliated genes

About this section

Publications for Gaucher Disease, Type I

About this section

Articles related to Gaucher Disease, Type I:

idTitleAuthorsYear
1
Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? (20049531)
2010
2
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. (18226995)
2008

Variations for Gaucher Disease, Type I

About this section

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

62 (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 I:

6 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1505G> A (p.Arg502His)single nucleotide variantPathogenicrs80356772GRCh37Chr 1, 155204986: 155204986
2GBANM_001005741.2(GBA): c.703T> C (p.Ser235Pro)single nucleotide variantPathogenicrs1064644GRCh37Chr 1, 155207983: 155207983
3GBANM_001005741.2(GBA): c.93_94insG (p.Gln32Alafs)insertionPathogenicrs80356760GRCh37Chr 1, 155210442: 155210443
4GBANM_001005741.2(GBA): c.1226A> C (p.Asn409Thr)single nucleotide variantPathogenicrs76763715GRCh37Chr 1, 155205634: 155205634
5GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
6GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
7GBANM_001005741.2(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
8GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
9GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
10GBANM_001005741.2(GBA): c.1343A> T (p.Asp448Val)single nucleotide variantPathogenicrs77369218GRCh37Chr 1, 155205517: 155205517
11GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
12GBANM_001005741.2(GBA): c.254G> A (p.Gly85Glu)single nucleotide variantPathogenicrs77829017GRCh37Chr 1, 155209730: 155209730
13GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
14GBANM_001005741.2(GBA): c.764T> A (p.Phe255Tyr)single nucleotide variantPathogenicrs74500255GRCh37Chr 1, 155207367: 155207367
15GBANM_001005741.2(GBA): c.535G> C (p.Asp179His)single nucleotide variantPathogenicrs147138516GRCh37Chr 1, 155208361: 155208361
16GBANM_001005741.2(GBA): c.586A> C (p.Lys196Gln)single nucleotide variantPathogenicrs121908297GRCh37Chr 1, 155208310: 155208310
17GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
18GBANM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18)duplicationPathogenicrs387906315GRCh37Chr 1, 155210451: 155210452
19GBANM_001005741.2(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
20GBANM_001005741.2(GBA): c.983C> T (p.Pro328Leu)single nucleotide variantPathogenicrs121908298GRCh37Chr 1, 155207148: 155207148
21GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
22GBANM_001005741.2(GBA): c.72delC (p.Leu25Serfs)deletionPathogenicrs397518433GRCh37Chr 1, 155210464: 155210464
23GBANM_001005741.2(GBA): c.481C> T (p.Pro161Ser)single nucleotide variantPathogenicrs121908299GRCh37Chr 1, 155208415: 155208415
24GBANM_001005741.2(GBA): c.751T> C (p.Tyr251His)single nucleotide variantPathogenicrs121908300GRCh37Chr 1, 155207935: 155207935
25GBANM_001005741.2(GBA): c.1549G> A (p.Gly517Ser)single nucleotide variantPathogenicrs121908301GRCh37Chr 1, 155204848: 155204848
26GBANM_001005741.2(GBA): c.1604G> A (p.Arg535His)single nucleotide variantPathogenicrs80356773GRCh37Chr 1, 155204793: 155204793
27GBANM_001005741.2(GBA): c.1263_1317del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205543: 155205597
28GBANM_001005741.2(GBA): c.160G> T (p.Val54Leu)single nucleotide variantPathogenicrs121908302GRCh37Chr 1, 155209824: 155209824
29GBANM_001005741.2(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenicrs364897GRCh37Chr 1, 155208006: 155208006
30GBANM_001005741.2(GBA): c.763T> G (p.Phe255Val)single nucleotide variantPathogenicrs121908303GRCh37Chr 1, 155207368: 155207368
31GBANM_001005741.2(GBA): c.1043C> T (p.Ala348Val)single nucleotide variantPathogenicrs78396650GRCh37Chr 1, 155206217: 155206217
32GBANM_001005741.2(GBA): c.1053G> T (p.Trp351Cys)single nucleotide variantPathogenicrs121908304GRCh37Chr 1, 155206207: 155206207
33GBANM_001005741.2(GBA): c.1208G> C (p.Ser403Thr)single nucleotide variantPathogenicrs121908307GRCh37Chr 1, 155206052: 155206052
34GBANM_001005741.2(GBA): c.259C> T (p.Arg87Trp)single nucleotide variantPathogenicrs1141814GRCh37Chr 1, 155209725: 155209725
35GBANM_001005741.2(GBA): c.1319C> T (p.Pro440Leu)single nucleotide variantPathogenicrs74598136GRCh37Chr 1, 155205541: 155205541
36GBANM_001005741.2(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
37GBANM_001005741.2(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
38GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
39GBANM_001005741.2(GBA): c.1228C> G (p.Leu410Val)single nucleotide variantPathogenicrs121908314GRCh37Chr 1, 155205632: 155205632
40GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
41GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantPathogenicrs368060GRCh37Chr 1, 155205008: 155205008
42GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantPathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease, Type I

About this section
Search GEO for disease gene expression data for Gaucher Disease, Type I.

Pathways for genes affiliated with Gaucher Disease, Type I

About this section

Pathways related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0SCARB2, GBA

Compounds for genes affiliated with Gaucher Disease, Type I

About this section
Sources:
43Novoseek, 12DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1miglustat43 1210.5CHIT1, GBA
2glucosylceramide43 2410.4CHIT1, GBA
3mannose439.3CHIT1, GBA
4Water249.3CHIT1, GBA
5leucine438.9SCARB2, GBA
6cholesterol43 28 24 1211.7SCARB2, GBA
7polysaccharide438.7CHIT1, SCARB2, GBA
8lipid438.6GBA, SCARB2, CHIT1

GO Terms for genes affiliated with Gaucher Disease, Type I

About this section

Cellular components related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:00057659.0SCARB2, GBA
2lysosomal lumenGO:00432028.7SCARB2, GBA

Products for genes affiliated with Gaucher Disease, Type I

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Gaucher Disease, Type I

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet