MCID: MSC036
MIFTS: 40

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Mental diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 49 11 45
Lgmd2i 45 22 47 51 67
Limb-Girdle Muscular Dystrophy Type 2i 32 45 22 67
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 45 51
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 45 51
 
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 67 24
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 67
Muscular Dystrophy, Limb-Girdle, Type 2i 65
Lgmd 2i 22
Mddgc5 67

Characteristics:

Orphanet epidemiological data:

51
lgmd2i:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

61
muscular dystrophy-dystroglycanopathy , type c, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM49 607155
Orphanet51 34515
ICD10 via Orphanet28 G71.0
MedGen34 C1846672
MeSH36 D049288
UMLS65 C1846672

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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NIH Rare Diseases:45 Limb-girdle muscular dystrophy type 2i (lgmd2i) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. the proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. in lgmd2i, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. the symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. lgmd2i is caused by changes (mutations) in the fkrp gene and is inherited in an autosomal recessive manner. there is, unfortunately, no cure for lgmd2i and treatment is based on the signs and symptoms present in each person. last updated: 12/21/2015

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as lgmd2i, is related to bacteriuria and urticaria, and has symptoms including exercise-induced myoglobinuria, macroglossia and dilated cardiomyopathy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, brain and myeloid, and related mouse phenotypes are behavior/neurological and muscle.

OMIM:49 MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no... (607155) more...

UniProtKB/Swiss-Prot:67 Muscular dystrophy-dystroglycanopathy limb-girdle C5: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 muscular dystrophy-dystroglycanopathy , type c, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1bacteriuria10.5
2urticaria10.5
3thyroid cancer10.5
4thyroiditis10.5
5cold urticaria10.5
6hypoaldosteronism10.5
7preauricular sinus10.5
8muscular dystrophy, limb-girdle, type 2a10.3
9muscular dystrophy-dystroglycanopathy , type c, 110.3
10juvenile batten disease10.3CAPN3, FKRP
11muscular dystrophy, limb-girdle, type ic10.2DYSF, FKRP
12colorectal adenoma10.2
13leukemia10.2
14lymphoma10.2
15spondyloarthropathy10.2
16gestational diabetes10.2
17meige syndrome10.2
18adenoma10.2
19hypoglycemia10.2
20dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.2CAPN3, DYSF
21col12a1-related muscle diseases10.0FKRP, POMGNT2
22immunodeficiency 34, mycobacteriosis, x-linked10.0DYSF, FKRP, LAMA2
23ullrich congenital muscular dystrophy 110.0CAPN3, LAMA2
24miyoshi muscular dystrophy 19.9CAPN3, CHKB, DYSF
25lyme disease9.9CHKB, LAMA2
26fktn-related muscle diseases9.8FKRP, LAMA2, POMGNT2
27myopathy with deficiency of iscu9.8TCAP, TTN
28muscular dystrophy, congenital9.8FKRP, LAMA2, POMGNT2
29muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.8FKRP, LAMA2, POMGNT2
30transverse vaginal septum9.8TCAP, TTN
31lennox-gastaut syndrome9.8FKRP, LAMA2, POMGNT2
32cornelia de lange syndrome9.7CAPN3, DYSF, TCAP, TRIM32
33kummell's disease9.7CAPN3, DYSF, FKRP, LAMA2
34limb-girdle muscular dystrophy9.7CAPN3, DYSF, TTN
35cardiomyopathy, familial hypertrophic9.7TCAP, TTN
36immature teratoma of ovary9.6CAPN3, CHKB, TTN
37dermatosis papulosa nigra9.5LAMA2, TTN
38cardiomyopathy with or without skeletal myopathy9.3FKRP, LAMA2, TCAP, TTN
39lmna-related muscle diseases9.3CAPN3, DYSF, FKRP, TCAP, TTN
40bardet-biedl syndrome 119.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
41cardiomyopathy, hypertrophic, 259.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
42mast cell disease9.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
43myopathy, myofibrillar, 39.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
44cardiomyopathy, dilated, 1l9.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
45muscular dystrophy, limb-girdle, type 2b9.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
46cartilage disease9.1CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
47alternating esotropia8.3CAPN3, DYSF, FKRP, LAMA2, POMGNT2, TCAP
48glycogen storage disease 0, muscle8.0CAPN3, CHKB, DYSF, FKRP, LAMA2, POMGNT2

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:



Diseases related to muscular dystrophy-dystroglycanopathy  , type c, 5

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Symptoms by clinical synopsis from OMIM:

607155

Clinical features from OMIM:

607155

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

(show all 25)
id Description Frequency HPO Source Accession
1 exercise-induced myoglobinuria 25% HP:0008305
2 macroglossia HP:0000158
3 dilated cardiomyopathy HP:0001644
4 achilles tendon contracture HP:0001771
5 restrictive respiratory insufficiency HP:0002111
6 difficulty walking HP:0002355
7 frequent falls HP:0002359
8 waddling gait HP:0002515
9 scoliosis HP:0002650
10 kyphosis HP:0002808
11 nocturnal hypoventilation HP:0002877
12 vertebral fusion HP:0002948
13 elevated serum creatine phosphokinase HP:0003236
14 hyperlordosis HP:0003307
15 myalgia HP:0003326
16 muscle cramps HP:0003394
17 shoulder girdle muscle weakness HP:0003547
18 difficulty climbing stairs HP:0003551
19 proximal muscle weakness HP:0003701
20 thigh hypertrophy HP:0003733
21 congenital muscular dystrophy HP:0003741
22 pelvic girdle muscle weakness HP:0003749
23 impaired left ventricular function HP:0005162
24 calf muscle hypertrophy HP:0008981
25 toe walking HP:0040083

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Drugs for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lisinoprilapproved, investigationalPhase 2, Phase 311683915-83-75362119
Synonyms:
(2S)-1-[(2S)-6-amino-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]hexanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N(2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(sup 2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-[Nalpha-[(S)-1-Carboxy-3-phenylpropyl]-L-lysyl]-L-proline
76547-98-3
77726-95-5
83915-83-7 (Parent)
AC1NSFPF
Acerbon
Acercomp
Alapril
BB_NC-1454
BIDD:GT0755
BPBio1_000290
BRD-K67966701-335-03-5
BRN 4276619
BSPBio_000262
C21H31N3O5
CCRIS 3568
CHEBI:43755
CHEMBL1237
CID5362119
Carace
Cipral
Cipril
Coric
D08131
DB00722
DivK1c_001037
Doneka
EINECS 278-488-1
HMS1921B14
HMS2090O14
HMS2092L21
HMS503O15
I06-1895
ICI-209K
IDI1_001037
Inhibril
Inopril
KBio1_001037
KBio2_000977
KBio2_003545
KBio2_006113
KBio3_002002
KBioGR_001599
KBioSS_000977
L0220
LPR
LS-118899
Linopril
Linvas
Lipril
Lisinal
Lisinopril
Lisinopril (INN)
 
Lisinopril (anhydrous)
Lisinopril 10mg
Lisinopril 2.5mg
Lisinopril 20mg
Lisinopril 40mg
Lisinopril 5mg
Lisinopril Dihydrate
Lisinopril anhydrous
Lisinoprilum
Lisinoprilum [Latin]
Lisipril
Lisoril
Lispril
Longes
Loril
Lysinopril
MK 521
MK 522
MK-521
MLS001306436
MLS001306481
MolPort-002-507-428
N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
N-(1(S)-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-((S)-1-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
NCGC00179623-01
NINDS_001037
Noperten
Novatec
Presiten
Prestwick0_000301
Prestwick1_000301
Prestwick2_000301
Prestwick3_000301
Prinil
Prinivil
Prinzide
Renacor
SMR000544473
SPBio_001351
SPBio_002481
SPECTRUM1501217
Sinopril
Sinopryl
Spectrum2_001456
Spectrum3_000941
Spectrum4_001040
Spectrum5_000995
Spectrum_000497
TL8005499
Tensopril
Tensyn
Tersif
Vivatec
Zestoretic
Zestril
Zestril (TN)
[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE
[N2-[(S)-1-CARBOXY-3-phenylpropyl]-L-lysyl-L-proline
lisinopril
2Protective AgentsPhase 2, Phase 35651
3Trace ElementsPhase 2, Phase 33900
4UbiquinonePhase 2, Phase 392
5VitaminsPhase 2, Phase 33857
6Protease InhibitorsPhase 2, Phase 34558
7MicronutrientsPhase 2, Phase 33901
8Antihypertensive AgentsPhase 2, Phase 33618
9HIV Protease InhibitorsPhase 2, Phase 34558
10Angiotensin-Converting Enzyme InhibitorsPhase 2, Phase 3634
11
Coenzyme Q10NutraceuticalPhase 2, Phase 3104303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
2Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
3Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2IRecruitingNCT02165358
4Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2i22

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

33
Skeletal muscle, Brain, Myeloid, B cells, Eye

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 or affiliated genes

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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.1CHKB, DYSF, FKRP, LAMA2, TCAP, TRIM32
2MP:00053696.7CAPN3, CHKB, DYSF, FKRP, LAMA2, TCAP
3MP:00053765.8CAPN3, CHKB, DYSF, FKRP, LAMA2, POMGNT2

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

67 (show all 18)
id Symbol AA change Variation ID SNP ID
1FKRPp.Arg143SerVAR_018282rs148206382
2FKRPp.Leu276IleVAR_018285rs28937900
3FKRPp.Arg312CysVAR_018287
4FKRPp.Pro316ArgVAR_018289
5FKRPp.Arg339LeuVAR_018291
6FKRPp.Arg54TrpVAR_019272rs28937905
7FKRPp.Tyr307AsnVAR_022850
8FKRPp.Pro316SerVAR_022851
9FKRPp.Asp360AsnVAR_022853
10FKRPp.Pro462SerVAR_022856
11FKRPp.Val79MetVAR_065055rs104894683
12FKRPp.Arg134TrpVAR_065056
13FKRPp.Val160PheVAR_065057
14FKRPp.Tyr182CysVAR_065058
15FKRPp.Thr293IleVAR_065059
16FKRPp.Val300AlaVAR_065060
17FKRPp.Val300MetVAR_065061
18FKRPp.Pro358LeuVAR_065062

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
2FKRPNM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs)duplicationPathogenicrs587777823GRCh38Chr 19, 46755837: 46755840
3FKRPNM_024301.4(FKRP): c.1486T> A (p.Ter496Arg)single nucleotide variantPathogenicrs104894682GRCh37Chr 19, 47260193: 47260193
4FKRPNM_024301.4(FKRP): c.1364C> A (p.Ala455Asp)single nucleotide variantPathogenicrs28937903GRCh37Chr 19, 47260071: 47260071
5FKRPNM_024301.4(FKRP): c.160C> T (p.Arg54Trp)single nucleotide variantPathogenicrs28937905GRCh37Chr 19, 47258867: 47258867
6FKRPNM_024301.4(FKRP): c.235G> A (p.Val79Met)single nucleotide variantPathogenicrs104894683GRCh37Chr 19, 47258942: 47258942
7FKRPNM_024301.4(FKRP): c.764G> A (p.Trp255Ter)single nucleotide variantPathogenicrs104894689GRCh37Chr 19, 47259471: 47259471
8FKRPNM_024301.4(FKRP): c.400C> T (p.Arg134Trp)single nucleotide variantPathogenicrs104894690GRCh37Chr 19, 47259107: 47259107
9FKRPNM_024301.4(FKRP): c.899T> C (p.Val300Ala)single nucleotide variantPathogenicrs104894691GRCh37Chr 19, 47259606: 47259606
10FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
11FKRPNM_024301.4(FKRP): c.1387A> G (p.Asn463Asp)single nucleotide variantPathogenicrs121908110GRCh37Chr 19, 47260094: 47260094
12FKRPNM_024301.4(FKRP): c.941C> T (p.Thr314Met)single nucleotide variantLikely pathogenic, Pathogenicrs398124395GRCh37Chr 19, 47259648: 47259648

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 5.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2TCAP, TTN

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.8DYSF, FKRP
2T-tubuleGO:00303159.4CAPN3, DYSF

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:00550039.4TCAP, TTN
2sarcomerogenesisGO:00487699.4TCAP, TTN
3muscle filament slidingGO:00300499.2TCAP, TTN
4cardiac muscle contractionGO:00600489.2TCAP, TTN
5sarcomere organizationGO:00452148.9CAPN3, TTN

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.3TRIM32, TTN

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet