MCID: PLY023
MIFTS: 53

Polycystic Liver Disease

Categories: Rare diseases, Liver diseases, Genetic diseases

Aliases & Classifications for Polycystic Liver Disease

MalaCards integrated aliases for Polycystic Liver Disease:

Name: Polycystic Liver Disease 12 53 37 29 13 55 15 73
Isolated Polycystic Liver Disease 53 59
Pcld 53 59
Isolated Autosomal Dominant Polycystic Liver Disease 53
Autosomal Dominant Polycystic Liver Disease 59
Liver Disease, Polycystic 40
Adpcld 59

Characteristics:

Orphanet epidemiological data:

59
isolated polycystic liver disease
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0050770
Orphanet 59 ORPHA2924
ICD10 via Orphanet 34 Q44.6
UMLS via Orphanet 74 C0158683
MESH via Orphanet 45 C536330
KEGG 37 H00545
UMLS 73 C0158683

Summaries for Polycystic Liver Disease

NIH Rare Diseases : 53 Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease.

MalaCards based summary : Polycystic Liver Disease, also known as isolated polycystic liver disease, is related to polycystic liver disease 1 with or without kidney cysts and polycystic kidney disease 3 with or without polycystic liver disease, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease is PRKCSH (Protein Kinase C Substrate 80K-H), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. The drugs lanreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and pancreas, and related phenotypes are abnormality of the pancreas and gastroesophageal reflux

Wikipedia : 76 Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout... more...

Related Diseases for Polycystic Liver Disease

Diseases related to Polycystic Liver Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 polycystic liver disease 1 with or without kidney cysts 32.7 LRP5 PKD1 PKD2 PKHD1 PRKCSH SEC63
2 polycystic kidney disease 3 with or without polycystic liver disease 32.6 GANAB PKD1 PKD2 PKDREJ
3 polycystic kidney disease 2 with or without polycystic liver disease 31.8 PKD1 PKD2 PKDREJ PKHD1 PRKCSH SEC63
4 polycystic kidney disease 1 with or without polycystic liver disease 31.6 FBN1 PKD1 PKD2 PKDREJ PKHD1 PRKCSH
5 polycystic kidney disease 4 with or without polycystic liver disease 31.6 PKD1 PKD2 PKDREJ PKHD1 PRKCSH SEC63
6 liver disease 30.9 ALB GANAB PRKCSH SEC63
7 kidney disease 28.4 ALB PKD1 PKD2 PKDREJ PKHD1
8 polycystic kidney disease 27.6 GANAB MIR15A PKD1 PKD2 PKDREJ PKHD1
9 autosomal dominant polycystic kidney disease 27.1 ALB AQP1 GANAB PKD1 PKD2 PKDREJ
10 polycystic liver disease 2 with or without kidney cysts 12.4
11 polycystic liver disease 3 with or without kidney cysts 12.4
12 polycystic liver disease 4 with or without kidney cysts 12.4
13 ciliary dyskinesia, primary, 30 10.7 CCDC151 PRKCSH
14 lymphatic malformations 10.5 PKD1 PKD2
15 multicystic dysplastic kidney 10.4 PKD1 PKD2
16 mass syndrome 10.4 FBN1 LRP5
17 hepatitis 10.4
18 caroli disease 10.4 PKD1 PKHD1
19 congenital hepatic fibrosis 10.2 PKD1 PKHD1
20 tricuspid valve prolapse 10.2 FBN1 PKDREJ
21 obstructive jaundice 10.0
22 cystic kidney disease 10.0 PKD1 PKD2 PKHD1
23 portal hypertension 10.0
24 aneurysm 10.0
25 infantile liver failure syndrome 1 9.9
26 hepatocellular carcinoma 9.8
27 budd-chiari syndrome 9.8
28 cerebritis 9.8
29 cerebral aneurysms 9.8
30 tricuspid valve insufficiency 9.7 ALB FBN1
31 antipyrine metabolism 9.7
32 congenital disorder of glycosylation, type in 9.7
33 salmonellosis 9.7
34 intracranial aneurysm 9.7
35 sclerosing cholangitis 9.7
36 neuroendocrine tumor 9.7
37 leiomyosarcoma 9.7
38 adenocarcinoma 9.7
39 cystadenocarcinoma 9.7
40 schneiderian carcinoma 9.7
41 pancreatitis 9.7
42 placenta disease 9.7
43 carotid artery dissection 9.7
44 cholangitis 9.7
45 meningitis 9.7
46 lymphangiomatosis 9.7
47 ascending cholangitis 9.6 ALB PKDREJ
48 chronic kidney failure 9.5 ALB PKD1 PKD2
49 trehalase deficiency 9.4 CCDC151 FBN1 LRP5 PKD1 PKD2
50 nephronophthisis 9.3 PKD1 PKD2 PKHD1

Comorbidity relations with Polycystic Liver Disease via Phenotypic Disease Network (PDN):


Chronic Kidney Failure Polycystic Kidney Disease

Graphical network of the top 20 diseases related to Polycystic Liver Disease:



Diseases related to Polycystic Liver Disease

Symptoms & Phenotypes for Polycystic Liver Disease

Human phenotypes related to Polycystic Liver Disease:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
2 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
3 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
4 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
5 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
6 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
7 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
8 back pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0003418
9 increased total bilirubin 59 32 occasional (7.5%) Occasional (29-5%) HP:0003573
10 multiple renal cysts 59 32 frequent (33%) Frequent (79-30%) HP:0005562
11 polycystic liver disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0006557
12 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
13 abnormality of the respiratory system 59 Occasional (29-5%)
14 aneurysm 59 Occasional (29-5%)
15 dilatation 32 occasional (7.5%) HP:0002617

UMLS symptoms related to Polycystic Liver Disease:


hepatosplenomegaly

MGI Mouse Phenotypes related to Polycystic Liver Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 ALB BUB1 CCDC151 FBN1 LRP5 NXN
2 endocrine/exocrine gland MP:0005379 10.07 ALB AQP1 BUB1 CCDC151 FBN1 LRP5
3 cardiovascular system MP:0005385 10.03 AQP1 CCDC151 FBN1 LRP5 NXN PKD1
4 hematopoietic system MP:0005397 9.97 PKD2 PKHD1 AQP1 BUB1 CCDC151 FBN1
5 liver/biliary system MP:0005370 9.91 ALB BUB1 LRP5 NXN PKD1 PKD2
6 mortality/aging MP:0010768 9.9 SEC63 ALB AQP1 BUB1 FBN1 LRP5
7 renal/urinary system MP:0005367 9.56 ALB AQP1 FBN1 PKD1 PKD2 PKHD1
8 respiratory system MP:0005388 9.1 PKD2 PKHD1 AQP1 CCDC151 FBN1 PKD1

Drugs & Therapeutics for Polycystic Liver Disease

Drugs for Polycystic Liver Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lanreotide Approved Phase 2, Phase 3,Phase 3 108736-35-2
2
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 3 38916-34-6, 51110-01-1 53481605
3
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
4
Ethanol Approved Phase 3 64-17-5 702
5 Angiopeptin Phase 2, Phase 3,Phase 3
6 Liver Extracts Phase 2, Phase 3,Phase 3,Not Applicable
7 Hormone Antagonists Phase 2, Phase 3,Phase 3,Not Applicable
8 Hormones Phase 2, Phase 3,Phase 3,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3,Not Applicable
10 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Not Applicable
11 Gastrointestinal Agents Phase 2, Phase 3
12 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
13 Anti-Infective Agents, Local Phase 3
14 Central Nervous System Depressants Phase 3
15 Pharmaceutical Solutions Phase 3
16
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
17
Everolimus Approved Phase 2,Not Applicable 159351-69-6 6442177
18
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
19
Sirolimus Approved, Investigational Phase 2,Not Applicable 53123-88-9 5284616 6436030 46835353
20 Cholagogues and Choleretics Phase 2
21 Anti-Bacterial Agents Phase 2,Not Applicable
22 Antibiotics, Antitubercular Phase 2,Not Applicable
23 Antifungal Agents Phase 2,Not Applicable
24 Immunosuppressive Agents Phase 2,Not Applicable
25
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
26
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
27
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
28
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
29
Tacrolimus Approved, Investigational Not Applicable 104987-11-3 445643 439492
30 tannic acid Approved, Nutraceutical Not Applicable
31 Anti-Inflammatory Agents Not Applicable
32 Antitubercular Agents Not Applicable
33 Calcineurin Inhibitors Not Applicable
34 glucocorticoids Not Applicable

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Open-Label Extension of LOCKCYST Trial Unknown status NCT00771888 Phase 2, Phase 3 lanreotide
2 Lanreotide Autogel in the Treatment of Symptomatic Polycystic Liver Disease Completed NCT01315795 Phase 2, Phase 3 Lanreotide Autogel 90 mg and 120 mg
3 Octreotide in Severe Polycystic Liver Disease Completed NCT00426153 Phase 2, Phase 3 Octreotide;Placebo
4 Lanreotide as Treatment of Polycystic Livers Completed NCT00565097 Phase 2, Phase 3 Placebo;Lanreotide
5 Effects of Somatostatin on Liver in ADPKD Completed NCT02119052 Phase 2, Phase 3 octeotride;placebo
6 Efficacy of Combining Pasireotide With Aspiration Sclerotherapy to Improve Volume Reduction of Hepatic Cysts Completed NCT02048319 Phase 3 Pasireotide LAR 60 mg;Placebo
7 Study of Lanreotide to Treat Polycystic Kidney Disease Active, not recruiting NCT01616927 Phase 3 Lanreotide
8 Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease Completed NCT02021110 Phase 2 Ursodeoxycholic Acid
9 Everolimus and LongActing Octreotide Trial in Polycystic Livers Completed NCT01157858 Phase 2 Everolimus;Octreotide LAR
10 Pasireotide LAR in Severe Polycystic Liver Disease Active, not recruiting NCT01670110 Phase 2 Pasireotide LAR;Placebo
11 Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q). Unknown status NCT02173080
12 Somatostatin Analogues as a Volume Reducing Treatment of Polycystic Livers (RESOLVE) Completed NCT01354405 Lanreotide
13 The Vienna RAP Pilot Study Completed NCT01632605 Not Applicable Sirolimus
14 Polycystic Liver Disease in Kidney Transplant Terminated NCT00934791 Not Applicable Tacrolimus;Sirolimus;Mycophenolate Mofetil;Prednisone

Search NIH Clinical Center for Polycystic Liver Disease

Genetic Tests for Polycystic Liver Disease

Genetic tests related to Polycystic Liver Disease:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 29

Anatomical Context for Polycystic Liver Disease

MalaCards organs/tissues related to Polycystic Liver Disease:

41
Liver, Kidney, Pancreas

Publications for Polycystic Liver Disease

Articles related to Polycystic Liver Disease:

(show top 50) (show all 288)
# Title Authors Year
1
Impact of liver volume on polycystic liver disease-related symptoms and quality of life. ( 29435317 )
2018
2
The combination of an HDAC6 inhibitor and a somatostatin receptor agonist synergistically reduces hepato-renal cystogenesis in an animal model of polycystic liver disease. ( 29366679 )
2018
3
Liver Transplant for Unusually Large Polycystic Liver Disease: Challenges and Pitfalls. ( 29487756 )
2018
4
Isolated Polycystic Liver Disease: An Unusual Cause of Recurrent Variceal Bleed. ( 29971171 )
2018
5
Scanning electron microscopy of polycystic liver disease. ( 29520518 )
2018
6
Multicentric Study of the Andalusian Experience in Polycystic Liver Disease as Indication for Liver Transplantation. ( 29579867 )
2018
7
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. ( 29243290 )
2018
8
Liver Transplantation for Polycystic Liver Disease Due to Huge Liver With Related Complications: A Case Report. ( 28340841 )
2017
9
Genetics: Novel causative genes for polycystic liver disease. ( 28559591 )
2017
10
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
11
Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies of Portal Hypertension. ( 28280650 )
2017
12
Transarterial Embolization for Treatment of Symptomatic Polycystic Liver Disease: More than 2-year Follow-up. ( 28776546 )
2017
13
Tolvaptan for the Treatment of Enlarged Polycystic Liver Disease. ( 29034246 )
2017
14
Clinical management of polycystic liver disease. ( 29175241 )
2017
15
Everolimus halts hepatic cystogenesis in a rodent model of polycystic-liver-disease. ( 28852309 )
2017
16
Hepatobiliary and Pancreatic: A unique case of HPV related metastatic Schneiderian carcinoma presenting as polycystic liver disease. ( 28052462 )
2017
17
Cholangiocyte autophagy contributes to hepatic cystogenesis in polycystic liver disease and represents a potential therapeutic target. ( 29023824 )
2017
18
Center is an important indicator for choice of invasive therapy in polycystic liver disease. ( 27732751 )
2017
19
TGR5 contributes to hepatic cystogenesis in rodents with polycystic liver diseases through cyclic adenosine monophosphate/GI+s signaling. ( 28543567 )
2017
20
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28375157 )
2017
21
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28862642 )
2017
22
Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease. ( 28611533 )
2017
23
An update on the pathophysiology and management of polycystic liver disease. ( 28317394 )
2017
24
The Longitudinal Study of Liver Cysts inA Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease. ( 29142941 )
2017
25
Polycystic Liver Disease: The interplay of genes causative for hepatic and renal cystogenesis. ( 29211938 )
2017
26
Polycystic liver disease: Hepatic venous outflow obstruction lesions of the non-cystic parenchyma have major consequences. ( 29023812 )
2017
27
Transgastric removal of a polycystic liver disease using mini-laparoscopic excision. ( 28386465 )
2016
28
Polycystic Liver Disease: The Benefits of Targeting cAMP. ( 26972981 )
2016
29
Adult polycystic liver disease concomitant with severe anemia due to intracystic bleeding is indicated to liver transplantation: case report and review of literature. ( 26945526 )
2016
30
Ursodeoxycholic acid in advanced polycystic liver disease: an international multicenter randomized controlled phase 2 trial: CURSOR: Controlled trial of URSOdeoxycholic acid to Reduce liver volume in polycystic liver disease. ( 27212247 )
2016
31
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease. ( 27571215 )
2016
32
Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease. ( 26838488 )
2016
33
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. ( 27552964 )
2016
34
Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes. ( 28018103 )
2016
35
Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. ( 26970415 )
2016
36
Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in polycystic liver disease. ( 27826057 )
2016
37
Monoethanolamine Oleate Sclerotherapy for Polycystic Liver Disease. ( 27750233 )
2016
38
Outcomes and Durability of Hepatic Reduction after Combined Partial Hepatectomy and Cyst Fenestration for Massive Polycystic Liver Disease. ( 27016902 )
2016
39
Polycystic liver disease complicated by obstructive jaundice. ( 26718392 )
2016
40
Isolated polycystic liver disease and aneurism: a case report. ( 27275480 )
2016
41
Fatal liver cyst rupture in polycystic liver disease complicated with autosomal dominant polycystic kidney disease: A case report. ( 27050907 )
2016
42
Laparoscopic surgery and polycystic liver disease: Clinicopathological features and new trends in management. ( 27279400 )
2016
43
Risk factors for progressive polycystic liver disease: where do we stand? ( 26681732 )
2016
44
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016
45
Medical therapy for polycystic liver disease. ( 26688394 )
2016
46
Biliary duct hamartomas in polycystic liver disease. ( 26272967 )
2015
47
KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Polycystic Liver Disease. ( 26718168 )
2015
48
Laparoscopic deroofing for polycystic liver disease using laparoscopic fusion indocyanine green fluorescence imaging. ( 26416378 )
2015
49
Polycystic liver disease with no renal involvement. ( 26320095 )
2015
50
Ultrasound-guided percutaneous drainage and sclerotherapy in a patient with isolated autosomal dominant polycystic liver disease. ( 25733043 )
2015

Variations for Polycystic Liver Disease

Expression for Polycystic Liver Disease

Search GEO for disease gene expression data for Polycystic Liver Disease.

Pathways for Polycystic Liver Disease

Pathways related to Polycystic Liver Disease according to KEGG:

37
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

Pathways related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 GANAB PRKCSH SEC63

GO Terms for Polycystic Liver Disease

Cellular components related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 ALB AQP1 FBN1 GANAB MIR15A PKD1
2 basolateral plasma membrane GO:0016323 9.61 AQP1 PKD1 PKD2
3 cilium GO:0005929 9.56 CCDC151 PKD1 PKD2 PKHD1
4 ciliary basal body GO:0036064 9.5 CCDC151 PKD2 PKHD1
5 endoplasmic reticulum GO:0005783 9.5 ALB ALG8 GANAB LRP5 PKD2 PRKCSH
6 endoplasmic reticulum lumen GO:0005788 9.46 ALB FBN1 GANAB PRKCSH
7 basal plasma membrane GO:0009925 9.4 AQP1 PKD2
8 polycystin complex GO:0002133 8.62 PKD1 PKD2

Biological processes related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.69 PKD1 PKD2 PKDREJ
2 kidney development GO:0001822 9.62 FBN1 PKD1 PKD2 PKHD1
3 spinal cord development GO:0021510 9.55 PKD1 PKD2
4 JAK-STAT cascade GO:0007259 9.54 PKD1 PKD2
5 embryonic placenta development GO:0001892 9.52 PKD1 PKD2
6 placenta blood vessel development GO:0060674 9.49 PKD1 PKD2
7 cytoplasmic sequestering of transcription factor GO:0042994 9.48 PKD1 PKD2
8 mesonephric tubule development GO:0072164 9.46 PKD1 PKD2
9 liver development GO:0001889 9.46 PKD1 PKD2 PRKCSH SEC63
10 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.43 PKD1 PKD2
11 nitrogen compound metabolic process GO:0006807 9.43 PKD1 PRKCSH SEC63
12 mesonephric duct development GO:0072177 9.4 PKD1 PKD2
13 metanephric ascending thin limb development GO:0072218 9.37 PKD1 PKD2
14 detection of mechanical stimulus GO:0050982 9.13 PKD1 PKD2 PKDREJ
15 renal system development GO:0072001 8.92 PKD1 PKD2 PRKCSH SEC63

Molecular functions related to Polycystic Liver Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.16 AQP1 PKD2
2 ion channel binding GO:0044325 9.13 PKD1 PKD2 PRKCSH
3 calcium channel activity GO:0005262 8.8 PKD1 PKD2 PKDREJ

Sources for Polycystic Liver Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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