MCID: BLR001
MIFTS: 57

Biliary Atresia

Categories: Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Biliary Atresia

MalaCards integrated aliases for Biliary Atresia:

Name: Biliary Atresia 12 76 53 37 29 55 44 15 73
Isolated Atresia of Bile Ducts 53
Non-Syndromic Biliary Atresia 53
Biliary Atresia, Congenital 12
Congenital Biliary Atresia 12
Isolated Biliary Atresia 53
Atresia of Bile Duct 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13608
ICD10 33 Q44.2
ICD9CM 35 751.61
MeSH 44 D001656
NCIt 50 C34421
SNOMED-CT 68 77480004
KEGG 37 H01855
UMLS 73 C0005411

Summaries for Biliary Atresia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 30391Disease definitionBiliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.Visit the Orphanet disease page for more resources.

MalaCards based summary : Biliary Atresia, also known as isolated atresia of bile ducts, is related to bile duct disease and ascending cholangitis, and has symptoms including icterus An important gene associated with Biliary Atresia is SLC10A1 (Solute Carrier Family 10 Member 1), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and Synthesis of bile acids and bile salts. The drugs Meloxicam and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, and related phenotypes are Reduced mammosphere formation and cardiovascular system

Disease Ontology : 12 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.

Wikipedia : 76 Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a... more...

Related Diseases for Biliary Atresia

Diseases related to Biliary Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 bile duct disease 30.9 ALB ATP8B1 GPT KRT7 NR1H4 SLC10A1
2 ascending cholangitis 30.5 ALB TGFB1
3 infantile liver failure syndrome 1 30.3 ALB GPT
4 cholestasis 30.3 ATP8B1 GPT JAG1 NR1H4 SLC10A1 SLC10A2
5 acute liver failure 30.2 ALB GPT HGF
6 obstructive jaundice 30.2 ALB GPT HGF
7 liver disease 30.1 ALB ATP8B1 GPT HGF NR1H4 TGFB1
8 hepatitis b 30.0 ALB GPT SLC10A1 TGFB1
9 liver cirrhosis 29.7 ALB GPT HGF TGFB1 TIMP1
10 cholangiocarcinoma 29.6 HGF KRT7 MMP7 SPP1 TGFB1
11 biliary atresia, extrahepatic 12.7
12 ichthyosis congenita with biliary atresia 12.4
13 biliary atresia intrahepatic non syndromic form 12.2
14 biliary atresia intrahepatic syndromic form 12.2
15 biliary atresia with splenic malformation syndrome 12.2
16 lambert syndrome 11.6
17 hepatoblastoma 11.5
18 bile acid synthesis defect, congenital, 2 11.1
19 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.1
20 bile acid synthesis defect, congenital, 1 11.1
21 hyperbiliverdinemia 11.1
22 bile duct cysts 10.5
23 hepatitis 10.5
24 cholangitis 10.5
25 portal hypertension 10.3
26 situs inversus 10.3
27 alagille syndrome 1 10.3
28 esophageal varix 10.2
29 hepatic tuberculosis 10.2 ALB GPT
30 kidney hypertrophy 10.2 ALB TGFB1
31 kwashiorkor 10.2 ALB GPT
32 hepatopulmonary syndrome 10.2
33 hepatic coma 10.2 ALB GPT
34 mid-dermal elastolysis 10.2 MMP7 TIMP1
35 hepatocellular carcinoma 10.2
36 thrombosis 10.2
37 vitamin k deficiency hemorrhagic disease 10.2
38 neonatal jaundice 10.2
39 obstructive nephropathy 10.1 ALB HGF TGFB1
40 viral hepatitis 10.1 ALB GPT MX1
41 vitreoretinopathy, neovascular inflammatory 10.1 HGF TGFB1 TIMP1
42 hydronephrosis 10.1 ALB TGFB1 TIMP1
43 cystic fibrosis 10.1
44 alpha-1-antitrypsin deficiency 10.1
45 portal vein thrombosis 10.1
46 degos 'en cocarde' erythrokeratoderma 10.1
47 cholelithiasis 10.1 ALB GPT NR1H4
48 atp8b1 deficiency 10.1 ATP8B1 NR1H4
49 chylothorax, congenital 10.1 ALB SPP1
50 nephrogenic systemic fibrosis 10.1 SPP1 TGFB1 TIMP1

Graphical network of the top 20 diseases related to Biliary Atresia:



Diseases related to Biliary Atresia

Symptoms & Phenotypes for Biliary Atresia

UMLS symptoms related to Biliary Atresia:


icterus

GenomeRNAi Phenotypes related to Biliary Atresia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 ALB KRT7 MMP7 NR1H4 TGFB1 TIMP1

MGI Mouse Phenotypes related to Biliary Atresia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 ADD3 HGF JAG1 MMP7 NR1H4 SPP1
2 growth/size/body region MP:0005378 10.07 ATP8B1 HGF JAG1 MMP7 NR1H4 SLC10A2
3 homeostasis/metabolism MP:0005376 10 ALB ATP8B1 JAG1 KRT7 MMP7 NR1H4
4 hematopoietic system MP:0005397 9.97 ADD3 HGF JAG1 MMP7 NR1H4 SPP1
5 digestive/alimentary MP:0005381 9.95 ALB JAG1 MMP7 NR1H4 SLC10A2 TGFB1
6 liver/biliary system MP:0005370 9.81 ALB ATP8B1 HGF JAG1 NR1H4 SLC10A2
7 neoplasm MP:0002006 9.5 ALB MMP7 NR1H4 SPP1 TGFB1 TIMP1
8 renal/urinary system MP:0005367 9.1 ALB JAG1 KRT7 SPP1 TGFB1 XPNPEP1

Drugs & Therapeutics for Biliary Atresia

Drugs for Biliary Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
2 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
3 Liver Extracts Phase 4,Phase 2,Not Applicable
4 Analgesics Phase 4,Not Applicable
5 Cyclooxygenase 2 Inhibitors Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Anti-Inflammatory Agents, Non-Steroidal Phase 4
8 Antirheumatic Agents Phase 4
9 Cyclooxygenase Inhibitors Phase 4
10 Peripheral Nervous System Agents Phase 4,Not Applicable
11
Prednisolone Approved, Vet_approved Phase 3,Not Applicable 50-24-8 5755
12
Prednisolone phosphate Approved, Vet_approved Phase 3,Not Applicable 302-25-0
13
Methylprednisolone Approved, Vet_approved Phase 3,Not Applicable 83-43-2 6741
14
Methylprednisolone hemisuccinate Approved Phase 3,Not Applicable 2921-57-5
15
Prednisolone hemisuccinate Experimental Phase 3,Not Applicable 2920-86-7
16 Methylprednisolone acetate Phase 3,Not Applicable
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
18 Prednisolone acetate Phase 3,Not Applicable
19 Hormone Antagonists Phase 3,Not Applicable
20 Hormones Phase 3,Not Applicable
21 glucocorticoids Phase 3,Not Applicable
22 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
23
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
24
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
25 gamma-Globulins Phase 1, Phase 2
26 Immunoglobulins, Intravenous Phase 1, Phase 2
27 Immunoglobulins Phase 1, Phase 2
28 Rho(D) Immune Globulin Phase 1, Phase 2
29 Immunologic Factors Phase 1, Phase 2,Early Phase 1
30 Antibodies Phase 1, Phase 2
31 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
32
Bilirubin Phase 2,Not Applicable 635-65-4 5280352
33 Protective Agents Phase 2,Not Applicable
34 Platelet Aggregation Inhibitors Phase 2,Not Applicable
35 Antidotes Phase 2
36 Antiviral Agents Phase 2
37 Antioxidants Phase 2
38 Expectorants Phase 2
39 Pharmaceutical Solutions Phase 2,Not Applicable
40 Respiratory System Agents Phase 2
41 N-monoacetylcystine Phase 2
42 Bile Acids and Salts Phase 2
43 cysteine Phase 2
44 Free Radical Scavengers Phase 2
45 Vasodilator Agents Phase 2
46 Phosphodiesterase Inhibitors Phase 2
47 Radiation-Protective Agents Phase 2
48
Vancomycin Approved Phase 1 1404-90-6 14969 441141
49 Anti-Bacterial Agents Phase 1,Not Applicable
50
Sevoflurane Approved, Vet_approved ,Not Applicable 28523-86-6 5206

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Clinical Study About the Role of COX-2 Inhibitor in Liver Cirrhosis With Biliary Atresia Completed NCT02298218 Phase 4 Meloxicam
2 RCT of Steroids Following Kasai Portoenterostomy for Biliary Atresia. Unknown status NCT00539565 Phase 3 prednisolone;placebo
3 Safety Study of Intravenous Immunoglobulin (IVIG) Post-Portoenterostomy in Infants With Biliary Atresia Completed NCT01854827 Phase 1, Phase 2 Intravenous immunoglobulin (IVIG)
4 N-Acetylcysteine in Biliary Atresia After Kasai Portoenterostomy Recruiting NCT03499249 Phase 2 N-Acetyl cysteine
5 Pentoxifylline Therapy in Biliary Atresia Recruiting NCT01774487 Phase 2 Pentoxifylline
6 Autologous Bone Marrow Mononuclear Stem Cell for Children Suffering From Liver Cirrhosis Due to Biliary Atresia Recruiting NCT03468699 Phase 2
7 Gastrointestinal Microbiota in Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Completed NCT01322386 Phase 1 Vancomycin
8 Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Recruiting NCT02137668 Phase 1 Oral Vancomycin
9 Trail to Investigate the Effectiveness of CoSeal in Reducing Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia Unknown status NCT01745991
10 Evaluation of Immune Function in Biliary Atresia Children With Prolonged Jaundice Unknown status NCT00155194
11 Clinical and Basic Study for Pediatric Liver Transplantation Unknown status NCT02503384
12 Survival With Own Liver of Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699 Not Applicable
13 Biliary Atresia, Hepatic Buffer Response and Sevoflurane Completed NCT02471209 Sevoflurane
14 Maternal Microchimerism in Lymph Nodes of Infants With Biliary Atresia at Time of Kasai's Operation Completed NCT02292862
15 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia After the Kasai Portoenterostomy Completed NCT00166868 Not Applicable Lactobacillus casei rhamnosus (Lcr35);Neomycin
16 A Randomized, Double-Blinded, Placebo-Controlled Trial of Corticosteroid Therapy Following Portoenterostomy Completed NCT00294684 Not Applicable Corticosteroids;Placebo
17 The Comparison of Desflurane and Sevoflurane on Postoperative Recovery and Hepatic Function of Biliary Atresia Patients During Kasai Operation Completed NCT01443572 Not Applicable desflurane anesthetics;sevoflurane anesthetics
18 the Correlation Between Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
19 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 Not Applicable magnesium gluconate;magnesium sulfate
20 Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Completed NCT01862211 Not Applicable
21 HEMOCC Study. Hemostasis in Cirrhotic Children. Completed NCT03244332 Not Applicable
22 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
23 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Recruiting NCT02652533
24 Biliary Atresia Study in Infants and Children Recruiting NCT00345553
25 Mapping Disease Pathways for Biliary Atresia Recruiting NCT03273049
26 PROBE: A Prospective Database of Infants With Cholestasis Recruiting NCT00061828
27 Effects of Intraoperative Normal Saline vs Lactated Ringer on Outcomes in Pediatric Liver Transplantation Recruiting NCT03563378 Not Applicable Lactated Ringer;Normal saline
28 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
29 GCSF Adjunct Therapy for Biliary Atresia Enrolling by invitation NCT03395028 Early Phase 1 Granulocyte Colony-Stimulating Factor
30 Dry Blood Spot Screening Test for Neonatal Cholestasis Patients Enrolling by invitation NCT03667534
31 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation NCT02922751
32 Increased Liver Stiffness: A Study of Acoustic Radiation Force Impulse (ARFI) Elastography Not yet recruiting NCT03382119 Not Applicable

Search NIH Clinical Center for Biliary Atresia

Cochrane evidence based reviews: biliary atresia

Genetic Tests for Biliary Atresia

Genetic tests related to Biliary Atresia:

# Genetic test Affiliating Genes
1 Biliary Atresia 29

Anatomical Context for Biliary Atresia

MalaCards organs/tissues related to Biliary Atresia:

41
Liver, Bone, Testes, T Cells, Lymph Node, Heart, Brain

Publications for Biliary Atresia

Articles related to Biliary Atresia:

(show top 50) (show all 1297)
# Title Authors Year
1
A quantitative image analysis using MRI for diagnosis of biliary atresia. ( 30415184 )
2019
2
Modifications to Expose Porta Hepatis for Laparoscopic Portoenterostomy Easier in Biliary Atresia. ( 30502273 )
2019
3
Increased expression of senescence-associated cell cycle regulators in the progression of biliary atresia: an immunohistochemical study. ( 29392752 )
2018
4
Cystic biliary atresia: A distinct clinical entity that may mimic choledochal cyst. ( 29904486 )
2018
5
Correlation of APRI Index with Metavir Index in Children with Neonatal Cholestasis Without Biliary Atresia. ( 29893700 )
2018
6
Liver transplantation for deterioration in native liver function after portoenterostomy for biliary atresia in Japan: Short- versus long-term survivors. ( 29229480 )
2018
7
Biliary tract: MMP7 - a diagnostic biomarker for biliary atresia. ( 29235550 )
2018
8
Analysis of risk factors for morbidity in children undergoing the Kasai procedure for biliary atresia. ( 29915925 )
2018
9
Transcription Factor GATA6: A Novel Marker and Putative Inducer of Ductal Metaplasia in Biliary Atresia. ( 29388792 )
2018
10
Glucocorticosteroids for infants with biliary atresia following Kasai portoenterostomy. ( 29761473 )
2018
11
First liver transplantation for biliary atresia in children: The hidden effects of non-centralization. ( 29869366 )
2018
12
Newborn biliary atresia screening with the stool colour card: a questionnaire survey of parents. ( 29862332 )
2018
13
Serum level of interleukin-13 receptor alpha 2 in infants with biliary atresia - is it of value? ( 29904725 )
2018
14
Early differential diagnosis methods of biliary atresia: a meta-analysis. ( 29397405 )
2018
15
Factors Associated with Timing and Adverse Outcomes in Patients with Biliary Atresia Undergoing Kasai Hepatoportoenterostomy. ( 29773306 )
2018
16
Women's periconceptional diet and risk of biliary atresia in offspring. ( 29762915 )
2018
17
The rate of hepatic artery complications is higher in pediatric liver transplant recipients with metabolic liver diseases than with biliary atresia. ( 29861326 )
2018
18
Multiple successful pregnancies in a woman with biliary atresia and native liver. ( 29279142 )
2018
19
Mitochondrial Mutations in Cholestatic Liver Disease with Biliary Atresia. ( 29343773 )
2018
20
Liver transplant score for prediction of biliary atresia patients' survival following Kasai procedure. ( 29898778 )
2018
21
Autoimmune liver disease-related autoantibodies in patients with biliary atresia. ( 29391761 )
2018
22
Synthesis and Structure-Activity Relationship Study of Biliatresone, a Plant Isoflavonoid That Causes Biliary Atresia. ( 29348813 )
2018
23
Waiting list mortality of young patients with biliary atresia: Competing risk analysis of an Eurotransplant registry-based cohort. ( 29377411 )
2018
24
Total Bile Acid Concentration in duodenal fluid Is a Useful Preoperative Screening Marker to Rule Out Biliary Atresia. ( 29851770 )
2018
25
Comparison of biliary atresia with and without intracranial hemorrhage. ( 29793754 )
2018
26
Liquid chromatography-mass spectroscopy in the diagnosis of biliary atresia in children with hyperbilirubinemia. ( 29907216 )
2018
27
Obliterative cholangiopathy in acquired cystic biliary atresia type III after cyst perforation: a case report. ( 29751790 )
2018
28
Reduced Immunohistochemical Expression of Hnf1I^ and FoxA2 in Liver Tissue Can Discriminate Between Biliary Atresia and Other Causes of Neonatal Cholestasis. ( 29406331 )
2018
29
Resolving Malnutrition With Parenteral Nutrition Before Liver Transplant in Biliary Atresia. ( 29356765 )
2018
30
Clinical and pathological features of patients with biliary atresia who survived for more than 5A years with native liver. ( 29427257 )
2018
31
No association between month of birth and biliary atresia in a country with tropical climate. ( 29863798 )
2018
32
Multiple glycolytic enzymes are antigens also in biliary atresia. ( 29432777 )
2018
33
Liver graft-to-spleen volume ratio as a useful predictive factor of the early graft function in children and young adults transplanted for biliary atresia. ( 29424478 )
2018
34
MicroRNA-29b/142-5p contribute to the pathogenesis of biliary atresia by regulating the IFN-I^ gene. ( 29748604 )
2018
35
Regulation of Epithelial Injury and Bile Duct Obstruction by NLRP3 and IL-1R1 in Experimental Biliary Atresia. ( 29886157 )
2018
36
Extracorporeal Membrane Oxygenation in a Patient with Biliary Atresia: Case and Review of Extracorporeal Life Support Organization Data. ( 29419536 )
2018
37
Intrahepatic bile duct primary cilia in biliary atresia. ( 29330965 )
2018
38
Gene expression profile of TLR7 signaling pathway in the liver of rhesus rotavirus-induced murine biliary atresia. ( 29909011 )
2018
39
Upregulation of High Mobility Group Box 1 May Contribute to the Pathogenesis of Biliary Atresia. ( 29909604 )
2018
40
Downregulation of Hes1 expression in experimental biliary atresia and its effects on bile duct structure. ( 30090006 )
2018
41
Prognosis of Biliary Atresia After 2-year Survival With Native Liver: A Nationwide Cohort Analysis. ( 30095577 )
2018
42
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. ( 30102696 )
2018
43
Replacement of the portal vein during orthotopic liver transplantation in the patient with biliary atresia. ( 30105818 )
2018
44
Antifibrotic potential of bone marrow‑derived mesenchymal stem cells in biliary atresia mice. ( 30106103 )
2018
45
Congenital biliary atresia in an infant born to hepatitis B mother treated with telbivudine before and during pregnancy. ( 30115574 )
2018
46
Clinical implications of serum Mac-2-binding protein (M2BPGi) during regular follow-up of patients with biliary atresia. ( 30128700 )
2018
47
What Happens after Kasai for Biliary Atresia? A European Multicenter Survey. ( 30130826 )
2018
48
Diagnostic Accuracy of Serum Matrix Metalloproteinase-7 for Biliary Atresia. ( 30153340 )
2018
49
CYP7A1 expression in hepatocytes is retained with upregulated fibroblast growth factor 19 in pediatric biliary atresia. ( 30156739 )
2018
50
Association of T-helper cell cytokine level with age in patients with biliary atresia: a preliminary study. ( 30159734 )
2018

Variations for Biliary Atresia

Expression for Biliary Atresia

Search GEO for disease gene expression data for Biliary Atresia.

Pathways for Biliary Atresia

GO Terms for Biliary Atresia

Cellular components related to Biliary Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 ALB GPT HGF MMP7 SPP1 TGFB1
2 extracellular region GO:0005576 9.56 ALB CFC1 HGF JAG1 MMP7 SPP1
3 platelet alpha granule lumen GO:0031093 8.92 ALB HGF TGFB1 TIMP1

Biological processes related to Biliary Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.65 HGF JAG1 SPP1 TGFB1 TIMP1
2 Notch signaling pathway GO:0007219 9.63 JAG1 NR1H4 TGFB1
3 response to organic substance GO:0010033 9.58 SPP1 TGFB1 TIMP1
4 response to vitamin D GO:0033280 9.48 SPP1 TGFB1
5 negative regulation of cell-cell adhesion GO:0022408 9.43 JAG1 TGFB1
6 bile acid metabolic process GO:0008206 9.37 ATP8B1 NR1H4
7 cell activation GO:0001775 9.32 TGFB1 TIMP1
8 platelet degranulation GO:0002576 9.26 ALB HGF TGFB1 TIMP1
9 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.16 TGFB1 TIMP1
10 bile acid and bile salt transport GO:0015721 8.92 ATP8B1 NR1H4 SLC10A1 SLC10A2

Molecular functions related to Biliary Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 HGF JAG1 TGFB1 TIMP1
2 bile acid:sodium symporter activity GO:0008508 8.62 SLC10A1 SLC10A2

Sources for Biliary Atresia

3 CDC
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19 FMA
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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