MCID: INC022
MIFTS: 39

Inclusion-Cell Disease

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Inclusion-Cell Disease

MalaCards integrated aliases for Inclusion-Cell Disease:

Name: Inclusion-Cell Disease 12 14
Inclusion Cell Disease 23 50 24
Mucolipidosis Ii 12 23 24
I-Cell Disease 12 23 24
Mucolipidosis Ii Alpha/beta 23 24
Ml Ii Alpha/beta 23 24
Mucolipidosis 2 50 69
I Cell Disease 50 29
Ml Ii 23 24
N-Acetylglucosamine 1phosphotransferase Deficiency 50
Type Ii Mucolipidosis 69
Ml Disorder Type 2 50
Leroy Disease 50
Gnpta 50
Ml 2 50
Mlii 24
Icd 50
Ml2 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0080070

Summaries for Inclusion-Cell Disease

NIH Rare Diseases : 50 mucolipidosis ii (ml ii), also known as i cell disease, is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers. ml ii can also cause heart valve abnormalities and repeated respiratory infections. this reduces the individual’s ability to breathe effectively and typically results in death by early adolescence. ml ii is caused by mutation in the gnptab gene, and is inherited in an autosomal recessive manner. ml ii is diagnosed by testing the blood or urine for high levels of mucolipids, and the diagnosis can be confirmed by genetic testing. treatment is based on relieving the signs and symptoms in each person, but early research into possible genetic therapies is promising. last updated: 7/19/2016

MalaCards based summary : Inclusion-Cell Disease, also known as inclusion cell disease, is related to mucolipidosis ii alpha/beta and brugada syndrome. An important gene associated with Inclusion-Cell Disease is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Lamivudine and Lopinavir have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and heart, and related phenotypes are behavior/neurological and homeostasis/metabolism

GeneReviews: NBK1828

Related Diseases for Inclusion-Cell Disease

Diseases related to Inclusion-Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
id Related Disease Score Top Affiliating Genes
1 mucolipidosis ii alpha/beta 31.9 CTSD GNPTAB GNPTG
2 brugada syndrome 11.1
3 catecholaminergic polymorphic ventricular tachycardia 11.0
4 reactive arthritis 10.9
5 choroid plexus papilloma 10.7
6 inflammatory bowel disease 8 10.5 GNPTAB GNPTG
7 intracranial thrombosis 10.4 GNPTAB GNPTG
8 geniculate herpes zoster 10.3 GNPTAB GNPTG
9 simpson-golabi-behmel syndrome 10.3 GNPTAB GNPTG
10 tay-sachs disease, b variant, adult form 10.2 ARSA PSAP
11 tay-sachs disease, b variant, juvenile form 10.1 ARSA PSAP
12 autosomal recessive infantile hypercalcemia 10.1 ARSA PSAP
13 hyperglobulinemic purpura 10.1 CTSA GLB1
14 severe combined immunodeficiency due to ada deficiency 10.1 CTSA GLB1
15 muscle disorders 10.1 CTSA GLB1
16 mucopolysaccharidosis ih/s 10.0 CTSA GLB1
17 purpura 10.0 GLB1 PSAP
18 graves disease 1 9.9 ARSA PSAP
19 intellectual developmental disorder with dysmorphic facies and ptosis 9.8 ARSA CTSD
20 mitochondrial dna depletion syndrome 1 9.8 ARSA PSAP
21 hypothalamic disease 9.8 ARSA PSAP
22 tyrosinemia, type i 9.7 ARSA CTSA PSAP
23 bone angioendothelial sarcoma 9.7 CTSA GLB1 PSAP
24 hemophagocytic lymphohistiocytosis, familial, 5 9.7 CTSA GLB1 PSAP
25 kashin-beck disease 9.6 CTSD PSAP
26 malignant glioma 9.6 ARSA CTSA GLB1
27 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 9.6 GNPTAB GNPTG IGF2R PSAP
28 uterine corpus cancer 9.5 ARSA GLB1 PSAP
29 dysostosis 9.2 ARSA CTSA GLB1 PSAP
30 spina bifida occulta 6.8 ARSA CTSA CTSD GLB1 GNPTAB GNPTG

Graphical network of the top 20 diseases related to Inclusion-Cell Disease:



Diseases related to Inclusion-Cell Disease

Symptoms & Phenotypes for Inclusion-Cell Disease

MGI Mouse Phenotypes related to Inclusion-Cell Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.98 ARSA CTSA CTSD GLB1 GNPTAB IGF2R
2 homeostasis/metabolism MP:0005376 9.97 ARSA CTSA CTSD GLB1 GNPTAB GNPTG
3 cellular MP:0005384 9.95 PSAP SORT1 CTSA CTSD GLB1 GNPTAB
4 hematopoietic system MP:0005397 9.91 GNPTAB IGF2R PSAP ARSA CTSA CTSD
5 immune system MP:0005387 9.8 ARSA CTSA CTSD GLB1 GNPTAB PSAP
6 mortality/aging MP:0010768 9.7 CTSA CTSD GLB1 GNPTAB IGF2R PSAP
7 nervous system MP:0003631 9.5 ARSA CTSD GLB1 GNPTAB IGF2R PSAP
8 renal/urinary system MP:0005367 9.02 CTSA GLB1 GNPTAB IGF2R PSAP

Drugs & Therapeutics for Inclusion-Cell Disease

Drugs for Inclusion-Cell Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
2
Lopinavir Approved Phase 3 192725-17-0 92727
3 Anti-Infective Agents Phase 3,Phase 2
4 Anti-HIV Agents Phase 3
5 Anti-Retroviral Agents Phase 3
6 Antiviral Agents Phase 3
7 Cytochrome P-450 CYP3A Inhibitors Phase 3
8 Cytochrome P-450 Enzyme Inhibitors Phase 3
9 HIV Protease Inhibitors Phase 3
10
protease inhibitors Phase 3
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
13
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
21 tannic acid Approved, Nutraceutical Phase 2
22 Alkylating Agents Phase 2
23 Antilymphocyte Serum Phase 2
24 Antirheumatic Agents Phase 2
25 Immunosuppressive Agents Phase 2
26 Methylprednisolone acetate Phase 2
27 Methylprednisolone Hemisuccinate Phase 2
28 Prednisolone acetate Phase 2
29 Prednisolone hemisuccinate Phase 2
30 Prednisolone phosphate Phase 2
31 Antifungal Agents Phase 2
32 Antimetabolites Phase 2
33 Antimetabolites, Antineoplastic Phase 2
34 Calcineurin Inhibitors Phase 2
35 Cyclosporins Phase 2
36 Dermatologic Agents Phase 2
37 Nucleic Acid Synthesis Inhibitors Phase 2
38
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
39
Mycophenolic acid Approved 24280-93-1 446541
40 Anti-Bacterial Agents
41 Antibiotics, Antitubercular
42 Krestin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Prospective Study of Lopinavir Based ART for HIV Infected childreN Globally (LIVING Study) Recruiting NCT02346487 Phase 3 LPV/RTV pellets and AZT/3TC or ABC/3TC
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
4 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
5 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
6 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
7 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
8 Biomarker for Mucolipidosis Disorder Type I, II, III or IV Recruiting NCT02298673

Search NIH Clinical Center for Inclusion-Cell Disease

Genetic Tests for Inclusion-Cell Disease

Genetic tests related to Inclusion-Cell Disease:

id Genetic test Affiliating Genes
1 I Cell Disease 29

Anatomical Context for Inclusion-Cell Disease

MalaCards organs/tissues related to Inclusion-Cell Disease:

39
Skin, Testes, Heart

Publications for Inclusion-Cell Disease

Articles related to Inclusion-Cell Disease:

id Title Authors Year
1
Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease. ( 27619328 )
2016
2
Decreased apoptotic response of inclusion-cell disease fibroblasts: a consequence of lysosomal enzyme missorting? ( 11855852 )
2002
3
Inclusion cell disease (I-cell). ( 18730990 )
1973
4
I (Inclusion) cell disease, Leroy's syndrome (arly alveolar ridge hypertrophy, joint limitation, thick, tight skin in early infancy). ( 4341138 )
1972

Variations for Inclusion-Cell Disease

ClinVar genetic disease variations for Inclusion-Cell Disease:

6 (show top 50) (show all 98)
id Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.310C> T (p.Gln104Ter) single nucleotide variant Pathogenic rs137852896 GRCh37 Chromosome 12, 102183729: 102183729
2 GNPTAB NM_024312.4(GNPTAB): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs137852897 GRCh37 Chromosome 12, 102147187: 102147187
3 GNPTAB NM_024312.4(GNPTAB): c.3173C> G (p.Ser1058Ter) single nucleotide variant Pathogenic rs137852898 GRCh37 Chromosome 12, 102153884: 102153884
4 GNPTAB NM_024312.4(GNPTAB): c.3474_3475delTA (p.His1158Glnfs) deletion Pathogenic rs281865038 GRCh37 Chromosome 12, 102147277: 102147278
5 GNPTAB NM_024312.4(GNPTAB): c.2681G> A (p.Trp894Ter) single nucleotide variant Pathogenic rs137852899 GRCh37 Chromosome 12, 102158014: 102158014
6 GNPTAB NM_024312.4(GNPTAB): c.1625_1626insC (p.Glu542Aspfs) insertion Pathogenic rs281865027 GRCh37 Chromosome 12, 102159069: 102159070
7 GNPTAB NM_024312.4(GNPTAB): c.3503_3504delTC (p.Leu1168Glnfs) deletion Pathogenic rs34002892 GRCh37 Chromosome 12, 102147248: 102147249
8 GNPTAB NM_024312.4(GNPTAB): c.3335+1G> A single nucleotide variant Pathogenic rs34940801 GRCh37 Chromosome 12, 102151349: 102151349
9 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
10 GNPTAB NM_024312.4(GNPTAB): c.1120T> C (p.Phe374Leu) single nucleotide variant Pathogenic rs137852900 GRCh37 Chromosome 12, 102163963: 102163963
11 GNPTAB NM_024312.4(GNPTAB): c.118-2A> G single nucleotide variant Pathogenic rs281865023 GRCh37 Chromosome 12, 102190542: 102190542
12 GNPTAB NM_024312.4(GNPTAB): c.1580delC (p.Cys528Valfs) deletion Pathogenic rs36007394 GRCh37 Chromosome 12, 102159901: 102159901
13 GNPTAB NM_024312.4(GNPTAB): c.1738_1741[3] (p.Ser581Ilefs) short repeat Pathogenic rs397507443 GRCh37 Chromosome 12, 102158954: 102158957
14 GNPTAB NM_024312.4(GNPTAB): c.2188delTinsAAA (p.Leu730Lysfs) indel Pathogenic rs34161232 GRCh37 Chromosome 12, 102158507: 102158507
15 GNPTAB NM_024312.4(GNPTAB): c.2533C> T (p.Gln845Ter) single nucleotide variant Pathogenic rs281865028 GRCh37 Chromosome 12, 102158162: 102158162
16 GNPTAB NM_024312.4(GNPTAB): c.2659dupA (p.Ser887Lysfs) duplication Pathogenic rs281865030 GRCh37 Chromosome 12, 102158036: 102158036
17 GNPTAB NM_024312.4(GNPTAB): c.2916_2917insT (p.Glu975Terfs) insertion Pathogenic rs281865032 GRCh37 Chromosome 12, 102155123: 102155123
18 GNPTAB NM_024312.4(GNPTAB): c.3145_3146insC (p.Gly1049Alafs) insertion Pathogenic rs281865033 GRCh37 Chromosome 12, 102153911: 102153912
19 GNPTAB NM_024312.4(GNPTAB): c.3231_3234dupCTAC (p.Tyr1079Leufs) duplication Pathogenic rs34256381 GRCh37 Chromosome 12, 102153823: 102153826
20 GNPTAB NM_024312.4(GNPTAB): c.3249+1G> A single nucleotide variant Pathogenic rs281865012 GRCh37 Chromosome 12, 102153807: 102153807
21 GNPTAB NM_024312.4(GNPTAB): c.3252delA (p.Pro1085Argfs) deletion Pathogenic rs281865035 GRCh37 Chromosome 12, 102151433: 102151433
22 GNPTAB NM_024312.4(GNPTAB): c.3434+1G> A single nucleotide variant Pathogenic rs281865036 GRCh37 Chromosome 12, 102150989: 102150989
23 GNPTAB NM_024312.4(GNPTAB): c.3566_3567insA (p.Asn1190Lysfs) insertion Pathogenic rs281865039 GRCh37 Chromosome 12, 102147185: 102147185
24 GNPTAB NM_024312.4(GNPTAB): c.3613C> T (p.Arg1205Ter) single nucleotide variant Pathogenic rs35333334 GRCh37 Chromosome 12, 102142959: 102142959
25 GNPTAB NM_024312.4(GNPTAB): c.555_556ins296 (p.?) insertion Pathogenic GRCh37 Chromosome 12, 102179805: 102179806
26 GNPTAB NM_024312.4(GNPTAB): c.616_619delACAG (p.Thr206Tyrfs) deletion Pathogenic rs281865024 GRCh37 Chromosome 12, 102174352: 102174355
27 GNPTAB NM_024312.4(GNPTAB): c.848delA (p.Thr284Leufs) deletion Pathogenic rs34517004 GRCh37 Chromosome 12, 102164859: 102164859
28 GNPTAB NM_024312.4(GNPTAB): c.1381T> G (p.Cys461Gly) single nucleotide variant Pathogenic rs281864977 GRCh37 Chromosome 12, 102161842: 102161842
29 GNPTAB NM_024312.4(GNPTAB): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs281864969 GRCh37 Chromosome 12, 102164297: 102164297
30 GNPTAB NM_024312.4(GNPTAB): c.1001G> T (p.Arg334Leu) single nucleotide variant Pathogenic rs281864970 GRCh37 Chromosome 12, 102164296: 102164296
31 GNPTAB NM_024312.4(GNPTAB): c.1090C> T (p.Arg364Ter) single nucleotide variant Pathogenic rs200646278 GRCh37 Chromosome 12, 102164207: 102164207
32 GNPTAB NM_024312.4(GNPTAB): c.1123C> T (p.Arg375Ter) single nucleotide variant Pathogenic rs397507447 GRCh37 Chromosome 12, 102163960: 102163960
33 GNPTAB NM_024312.4(GNPTAB): c.118-?_203+?dup86 duplication Pathogenic GRCh37 Chromosome 12, 102190455: 102190540
34 GNPTAB NM_024312.4(GNPTAB): c.1191_1194dupGCTG (p.Ser399Alafs) duplication Pathogenic rs281864971 GRCh37 Chromosome 12, 102163889: 102163892
35 GNPTAB NM_024312.4(GNPTAB): c.1206dupT (p.Ile403Tyrfs) duplication Pathogenic rs281864972 GRCh37 Chromosome 12, 102163877: 102163877
36 GNPTAB NM_024312.4(GNPTAB): c.121delG (p.Val41Phefs) deletion Pathogenic rs281864948 GRCh37 Chromosome 12, 102190537: 102190537
37 GNPTAB NM_024312.4(GNPTAB): c.1331dupG (p.Ser445Phefs) duplication Pathogenic rs281864976 GRCh37 Chromosome 12, 102161892: 102161892
38 GNPTAB NM_024312.4(GNPTAB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs78347057 GRCh37 Chromosome 12, 102190522: 102190522
39 GNPTAB NM_024312.4(GNPTAB): c.1399delG (p.Asp467Ilefs) deletion Pathogenic rs397507448 GRCh37 Chromosome 12, 102161824: 102161824
40 GNPTAB NM_024312.4(GNPTAB): c.1519C> T (p.Gln507Ter) single nucleotide variant Pathogenic rs281864981 GRCh37 Chromosome 12, 102159962: 102159962
41 GNPTAB NM_024312.4(GNPTAB): c.163_164insT (p.Ser55Phefs) insertion Pathogenic rs281864949 GRCh37 Chromosome 12, 102190495: 102190495
42 GNPTAB NM_024312.4(GNPTAB): c.171delA (p.Asp58Thrfs) deletion Pathogenic rs281864951 GRCh37 Chromosome 12, 102190487: 102190487
43 GNPTAB NM_024312.4(GNPTAB): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs281864982 GRCh37 Chromosome 12, 102158936: 102158936
44 GNPTAB NM_024312.4(GNPTAB): c.1959_1962delTAGT (p.Ser654Profs) deletion Pathogenic rs281864983 GRCh37 Chromosome 12, 102158733: 102158736
45 GNPTAB NM_024312.4(GNPTAB): c.1965delC (p.Ile656Terfs) deletion Pathogenic rs281864984 GRCh37 Chromosome 12, 102158730: 102158730
46 GNPTAB NM_024312.4(GNPTAB): c.1999G> T (p.Glu667Ter) single nucleotide variant Pathogenic rs281864985 GRCh37 Chromosome 12, 102158696: 102158696
47 GNPTAB NM_024312.4(GNPTAB): c.1999_2000insT (p.Glu667Valfs) insertion Pathogenic rs281864986 GRCh37 Chromosome 12, 102158695: 102158696
48 GNPTAB NM_024312.4(GNPTAB): c.2089_2090insC (p.Leu697Profs) insertion Pathogenic rs281864987 GRCh37 Chromosome 12, 102158606: 102158606
49 GNPTAB NM_024312.4(GNPTAB): c.2196G> T (p.Lys732Asn) single nucleotide variant Pathogenic rs281864989 GRCh37 Chromosome 12, 102158499: 102158499
50 GNPTAB NM_024312.4(GNPTAB): c.2220_2221dupGA (p.Met741Argfs) duplication Pathogenic rs281864990 GRCh37 Chromosome 12, 102158474: 102158475

Expression for Inclusion-Cell Disease

Search GEO for disease gene expression data for Inclusion-Cell Disease.

Pathways for Inclusion-Cell Disease

Pathways related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 ARSA CTSA GLB1 PSAP
2 11.37 ARSA CTSA CTSD GLB1 GNPTAB GNPTG

GO Terms for Inclusion-Cell Disease

Cellular components related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 ARSA CTSA CTSD GLB1 GNPTG PSAP
2 extracellular exosome GO:0070062 9.91 ARSA CTSA CTSD GLB1 GNPTG IGF2R
3 extracellular space GO:0005615 9.88 ARSA CTSD GLB1 IGF2R PSAP
4 Golgi apparatus GO:0005794 9.83 GLB1 GNPTAB GNPTG IGF2R SORT1
5 intracellular membrane-bounded organelle GO:0043231 9.65 CTSA GLB1 GNPTG PSAP SORT1
6 azurophil granule lumen GO:0035578 9.5 ARSA CTSA GLB1
7 lysosomal membrane GO:0005765 9.46 CTSA IGF2R PSAP SORT1
8 trans-Golgi network transport vesicle GO:0030140 9.4 IGF2R SORT1
9 lysosomal lumen GO:0043202 9.35 ARSA CTSA CTSD GLB1 PSAP
10 lysosome GO:0005764 9.17 ARSA CTSA CTSD GLB1 IGF2R PSAP

Biological processes related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.43 ARSA CTSA CTSD GLB1 IGF2R PSAP
2 carbohydrate phosphorylation GO:0046835 9.26 GNPTAB GNPTG
3 N-glycan processing to lysosome GO:0016256 9.16 GNPTAB GNPTG
4 glycosphingolipid metabolic process GO:0006687 8.92 ARSA CTSA GLB1 PSAP

Molecular functions related to Inclusion-Cell Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme activator activity GO:0008047 9.26 CTSA PSAP
2 exo-alpha-sialidase activity GO:0004308 9.16 CTSA GLB1
3 beta-galactosidase activity GO:0004565 8.96 GLB1 PSAP
4 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0003976 8.62 GNPTAB GNPTG

Sources for Inclusion-Cell Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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