PCLD
MCID: PLY023
MIFTS: 55

Polycystic Liver Disease (PCLD)

Categories: Genetic diseases, Liver diseases, Rare 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
Congenital Cystic Liver Disease 12
Fibrocystic Liver Disease 12
Liver Disease, Polycystic 40
Congenital Hepatic Cyst 12
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 kidney disease 3 with or without polycystic liver disease and polycystic liver disease 1 with or without kidney cysts, 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 are Protein processing in endoplasmic reticulum and Protein export. 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 respiratory insufficiency and hepatomegaly

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 all 44)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease 3 with or without polycystic liver disease 33.9 GANAB PKD1 PKD2
2 polycystic liver disease 1 with or without kidney cysts 33.9 LRP5 PKD1 PKD2 PKHD1 PRKCSH SEC63
3 polycystic kidney disease 1 with or without polycystic liver disease 33.7 FBN1 PKD1 PKD2 PKHD1 PRKCSH
4 polycystic kidney disease 2 with or without polycystic liver disease 33.6 GANAB PKD1 PKD2 PKHD1 PRKCSH SEC63
5 polycystic kidney disease 4 with or without polycystic liver disease 33.3 ALG8 PKD1 PKD2 PKHD1 PRKCSH SEC61B
6 congenital hepatic fibrosis 31.9 PKD1 PKHD1
7 liver disease 30.5 ALB ALG8 GANAB LRP5 PKD1 PKD2
8 kidney disease 30.1 ALB GANAB PKD1 PKD2 PKHD1
9 polycystic kidney disease 30.0 GANAB LRP5 MIR15A PKD1 PKD2 PKHD1
10 autosomal dominant polycystic kidney disease 29.5 ALB AQP1 GANAB LRP5 PKD1 PKD2
11 polycystic liver disease 2 with or without kidney cysts 12.6
12 polycystic liver disease 3 with or without kidney cysts 12.6
13 polycystic liver disease 4 with or without kidney cysts 12.6
14 polycystic kidney disease 6 with or without polycystic liver disease 12.5
15 obstructive jaundice 10.2
16 lymphatic malformations 10.2 PKD1 PKD2
17 ciliary dyskinesia, primary, 30 10.2 CCDC151 PRKCSH
18 multicystic dysplastic kidney 10.2 PKD1 PKD2
19 caroli disease 10.1 PKD1 PKHD1
20 mass syndrome 10.1 FBN1 LRP5
21 portal hypertension 10.1
22 infantile liver failure syndrome 1 10.0
23 hepatocellular carcinoma 9.9
24 budd-chiari syndrome 9.9
25 fatty liver disease 9.9
26 cerebral aneurysms 9.9
27 nephronophthisis 9.9 PKD1 PKD2 PKHD1
28 urinary system disease 9.9 ALB PKD1 PKD2
29 tricuspid valve insufficiency 9.8 ALB FBN1
30 antipyrine metabolism 9.8
31 polycystic ovary syndrome 1 9.8
32 cholangiocarcinoma 9.8
33 nonalcoholic fatty liver disease 9.8
34 sclerosing cholangitis 9.8
35 neuroendocrine tumor 9.8
36 leiomyosarcoma 9.8
37 adenocarcinoma 9.8
38 cystadenocarcinoma 9.8
39 schneiderian carcinoma 9.8
40 carotid artery dissection 9.8
41 cholangitis 9.8
42 lymphangiomatosis 9.8
43 chronic kidney failure 9.8 ALB PKD1 PKD2
44 cystic kidney disease 9.7 ALB PKD1 PKD2 PKHD1 PRKCSH

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 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
4 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
5 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
6 back pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0003418
7 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
8 multiple renal cysts 59 32 frequent (33%) Frequent (79-30%) HP:0005562
9 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
10 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
11 increased total bilirubin 59 32 occasional (7.5%) Occasional (29-5%) HP:0003573
12 polycystic liver disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0006557
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 AQP1 BUB1 CCDC151 FBN1 LRP5 NXN
5 liver/biliary system MP:0005370 9.91 ALB BUB1 LRP5 NXN PKD1 PKD2
6 mortality/aging MP:0010768 9.9 ALB AQP1 BUB1 FBN1 LRP5 NXN
7 renal/urinary system MP:0005367 9.56 ALB AQP1 FBN1 PKD1 PKD2 PKHD1
8 respiratory system MP:0005388 9.1 AQP1 CCDC151 FBN1 PKD1 PKD2 PKHD1

Drugs & Therapeutics for Polycystic Liver Disease

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

(show all 35)
# 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 51110-01-1, 38916-34-6 53481605
3
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 383414 6400441
4
Pasireotide Approved Phase 3,Phase 2 396091-73-9 9941444
5
Ethanol Approved Phase 3 64-17-5 702
6 Liver Extracts Phase 2, Phase 3,Phase 3,Not Applicable
7 Angiopeptin Phase 2, Phase 3,Phase 3
8 Hormones Phase 2, Phase 3,Phase 3,Not Applicable
9 Hormone Antagonists Phase 2, Phase 3,Phase 3,Not Applicable
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3,Not Applicable
11 Gastrointestinal Agents Phase 2, Phase 3
12 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Not Applicable
13 Anti-Infective Agents, Local Phase 3
14 Central Nervous System Depressants Phase 3
15 Pharmaceutical Solutions Phase 3
16 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
17
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
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 46835353 6436030 5284616
20
Everolimus Approved Phase 2,Not Applicable 159351-69-6 6442177
21 Cholagogues and Choleretics Phase 2
22 Anti-Bacterial Agents Phase 2,Not Applicable
23 Antifungal Agents Phase 2,Not Applicable
24 Antibiotics, Antitubercular Phase 2,Not Applicable
25 Immunosuppressive Agents Phase 2,Not Applicable
26 Immunologic Factors Phase 2,Not Applicable
27
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
28
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
29
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
30 tannic acid Approved Not Applicable
31
Tacrolimus Approved, Investigational Not Applicable 104987-11-3 445643 439492
32 Anti-Inflammatory Agents Not Applicable
33 glucocorticoids Not Applicable
34 Antitubercular Agents Not Applicable
35 Calcineurin Inhibitors 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, Bone, Ovary

Publications for Polycystic Liver Disease

Articles related to Polycystic Liver Disease:

(show top 50) (show all 293)
# 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
TIMING AND TREATMENT OPTIONS IN ADULT POLYCYSTIC LIVER DISEASE: A RARE FAMILIAR CASE AS EXAMPLE. ( 30539986 )
2018
9
Intravascular US Guidance for Direct Intrahepatic Portosystemic Shunt Creation in the Setting of Polycystic Liver Disease. ( 30266228 )
2018
10
Drug holiday in patients with polycystic liver disease treated with somatostatin analogues. ( 30302127 )
2018
11
Modified technique of total hepatectomy in polycystic liver disease with caval flow preservation: the exposure left lateral sectionectomy. ( 30444803 )
2018
12
Treatment of polycystic liver disease. Update on the management. ( 30145049 )
2018
13
An in vitro model of polycystic liver disease using genome-edited human inducible pluripotent stem cells. ( 30172093 )
2018
14
Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry. ( 30225933 )
2018
15
Polycystic liver disease: Hepatic venous outflow obstruction lesions of the noncystic parenchyma have major consequences. ( 29023812 )
2018
16
Liver Transplantation for Polycystic Liver Disease Due to Huge Liver With Related Complications: A Case Report. ( 28340841 )
2017
17
Genetics: Novel causative genes for polycystic liver disease. ( 28559591 )
2017
18
Waitlisted Candidates With Polycystic Liver Disease are More Likely to be Transplanted Than Those With Chronic Liver Failure. ( 28296808 )
2017
19
Polycystic Liver Disease and Sarcoidosis: Unusual Coexisting Etiologies of Portal Hypertension. ( 28280650 )
2017
20
Transarterial Embolization for Treatment of Symptomatic Polycystic Liver Disease: More than 2-year Follow-up. ( 28776546 )
2017
21
Tolvaptan for the Treatment of Enlarged Polycystic Liver Disease. ( 29034246 )
2017
22
Clinical management of polycystic liver disease. ( 29175241 )
2017
23
Everolimus halts hepatic cystogenesis in a rodent model of polycystic-liver-disease. ( 28852309 )
2017
24
Hepatobiliary and Pancreatic: A unique case of HPV related metastatic Schneiderian carcinoma presenting as polycystic liver disease. ( 28052462 )
2017
25
Cholangiocyte autophagy contributes to hepatic cystogenesis in polycystic liver disease and represents a potential therapeutic target. ( 29023824 )
2017
26
Center is an important indicator for choice of invasive therapy in polycystic liver disease. ( 27732751 )
2017
27
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28862642 )
2017
28
Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease. ( 28611533 )
2017
29
An update on the pathophysiology and management of polycystic liver disease. ( 28317394 )
2017
30
The Longitudinal Study of Liver Cysts inA Patients With Autosomal Dominant Polycystic Kidney Disease and Polycystic Liver Disease. ( 29142941 )
2017
31
Polycystic Liver Disease: The interplay of genes causative for hepatic and renal cystogenesis. ( 29211938 )
2017
32
Transgastric removal of a polycystic liver disease using mini-laparoscopic excision. ( 28386465 )
2016
33
Polycystic Liver Disease: The Benefits of Targeting cAMP. ( 26972981 )
2016
34
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
35
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
36
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease. ( 27571215 )
2016
37
Overexpression of Aquaporin 1 on cysts of patients with polycystic liver disease. ( 26838488 )
2016
38
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. ( 27552964 )
2016
39
Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes. ( 28018103 )
2016
40
Development and validation of a disease-specific questionnaire to assess patient-reported symptoms in polycystic liver disease. ( 26970415 )
2016
41
Adenylyl cyclase 5 links changes in calcium homeostasis to cAMP-dependent cyst growth in polycystic liver disease. ( 27826057 )
2016
42
Monoethanolamine Oleate Sclerotherapy for Polycystic Liver Disease. ( 27750233 )
2016
43
Outcomes and Durability of Hepatic Reduction after Combined Partial Hepatectomy and Cyst Fenestration for Massive Polycystic Liver Disease. ( 27016902 )
2016
44
Polycystic liver disease complicated by obstructive jaundice. ( 26718392 )
2016
45
Isolated polycystic liver disease and aneurism: a case report. ( 27275480 )
2016
46
Fatal liver cyst rupture in polycystic liver disease complicated with autosomal dominant polycystic kidney disease: A case report. ( 27050907 )
2016
47
Laparoscopic surgery and polycystic liver disease: Clinicopathological features and new trends in management. ( 27279400 )
2016
48
Risk factors for progressive polycystic liver disease: where do we stand? ( 26681732 )
2016
49
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. ( 26932689 )
2016
50
Medical therapy for polycystic liver disease. ( 26688394 )
2016

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 11.14 GANAB PRKCSH SEC61B SEC63
2 10.32 SEC61B 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 9.95 ALB AQP1 GANAB MIR15A PKD1 PKD2
2 endoplasmic reticulum GO:0005783 9.76 ALB ALG8 GANAB LRP5 PKD2 PRKCSH
3 basolateral plasma membrane GO:0016323 9.63 AQP1 PKD1 PKD2
4 cilium GO:0005929 9.62 CCDC151 PKD1 PKD2 PKHD1
5 endoplasmic reticulum lumen GO:0005788 9.56 ALB FBN1 GANAB PRKCSH
6 ciliary basal body GO:0036064 9.54 CCDC151 PKD2 PKHD1
7 basal plasma membrane GO:0009925 9.43 AQP1 PKD2
8 glucosidase II complex GO:0017177 8.96 GANAB PRKCSH
9 polycystin complex GO:0002133 8.62 PKD1 PKD2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 spinal cord development GO:0021510 9.56 PKD1 PKD2
2 kidney development GO:0001822 9.56 FBN1 PKD1 PKD2 PKHD1
3 JAK-STAT cascade GO:0007259 9.55 PKD1 PKD2
4 embryonic placenta development GO:0001892 9.54 PKD1 PKD2
5 N-glycan processing GO:0006491 9.52 GANAB PRKCSH
6 detection of mechanical stimulus GO:0050982 9.51 PKD1 PKD2
7 placenta blood vessel development GO:0060674 9.49 PKD1 PKD2
8 cytoplasmic sequestering of transcription factor GO:0042994 9.48 PKD1 PKD2
9 mesonephric tubule development GO:0072164 9.46 PKD1 PKD2
10 obsolete 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 mesonephric duct development GO:0072177 9.4 PKD1 PKD2
12 metanephric ascending thin limb development GO:0072218 9.37 PKD1 PKD2
13 nitrogen compound metabolic process GO:0006807 9.33 PKD1 PRKCSH SEC63
14 posttranslational protein targeting to membrane, translocation GO:0031204 9.32 SEC61B SEC63
15 liver development GO:0001889 9.26 PKD1 PKD2 PRKCSH SEC63
16 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 protein binding GO:0005515 9.47 ALB ALG8 AQP1 BUB1 CCDC151 FBN1
2 phosphoprotein binding GO:0051219 9.26 PKD2 PRKCSH
3 channel activity GO:0015267 9.16 AQP1 PKD2
4 ion channel binding GO:0044325 9.13 PKD1 PKD2 PRKCSH

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
Content
Loading form....