PBAM
MCID: BLC012
MIFTS: 45

Bile Acid Malabsorption, Primary (PBAM)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases

Aliases & Classifications for Bile Acid Malabsorption, Primary

MalaCards integrated aliases for Bile Acid Malabsorption, Primary:

Name: Bile Acid Malabsorption, Primary 57 29 13 6 39 70
Primary Bile Acid Malabsorption 72 36
Pbam 57 72
Steatorrhea 44

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
rare disorder


HPO:

31
bile acid malabsorption, primary:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM® 57 613291
KEGG 36 H01016
MeSH 44 D045602
MedGen 41 C2750087
UMLS 70 C2750087

Summaries for Bile Acid Malabsorption, Primary

OMIM® : 57 Primary bile acid malabsorption is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by Pattni and Walters, 2009). (613291) (Updated 20-May-2021)

MalaCards based summary : Bile Acid Malabsorption, Primary, also known as primary bile acid malabsorption, is related to pancreatic steatorrhea and celiac disease 1, and has symptoms including diarrhea An important gene associated with Bile Acid Malabsorption, Primary is SLC10A2 (Solute Carrier Family 10 Member 2), and among its related pathways/superpathways are Bile secretion and cAMP signaling pathway. The drugs Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and thyroid, and related phenotypes are failure to thrive and growth delay

KEGG : 36 This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and excess colonic bile acids cause diarrhea. Excess colonic bile acids can be seen in patients with a histological normal terminal ileum and this has been called primary bile acid malabsorption.

UniProtKB/Swiss-Prot : 72 Primary bile acid malabsorption: An intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids.

Related Diseases for Bile Acid Malabsorption, Primary

Diseases related to Bile Acid Malabsorption, Primary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 188)
# Related Disease Score Top Affiliating Genes
1 pancreatic steatorrhea 31.8 SCT PNLIP CCK
2 celiac disease 1 31.3 SCT GCG CCK
3 pancreatitis, hereditary 30.9 SCT CFTR CCK
4 zollinger-ellison syndrome 30.3 SST SCT
5 pernicious anemia 30.0 SST SCT
6 volvulus of midgut 30.0 SST GCG
7 duodenal ulcer 29.7 SST SCT CCK
8 pancreatic agenesis 1 29.7 SCT PNLIP CFTR
9 cholestasis 29.6 SLC10A2 GCG CCK
10 duodenal atresia 29.4 SCT CFTR
11 exocrine pancreatic insufficiency 29.4 SCT PNLIP ELANE CFTR CCK
12 short bowel syndrome 29.4 SST GCG CCK
13 secretory diarrhea 29.3 SST CFTR
14 constipation 29.3 SST GCG CCK
15 alcoholic pancreatitis 29.2 SCT CFTR CCK
16 chylomicron retention disease 29.1 SLC10A2 PNLIP MTTP GCG CFTR
17 diarrhea 29.0 TMPRSS15 SST SLC10A2 SCT CFTR CCK
18 pancreatitis 28.2 TMPRSS15 SST SCT PNLIP GCG ELANE
19 acute pancreatitis 28.0 TMPRSS15 SST SCT PNLIP ELANE CFTR
20 bile acid synthesis defect, congenital, 2 11.0
21 lysosomal acid lipase deficiency 11.0
22 bile acid synthesis defect, congenital, 1 11.0
23 tropical sprue 11.0
24 blind loop syndrome 10.9
25 abetalipoproteinemia 10.9
26 cholestasis, benign recurrent intrahepatic, 1 10.9
27 shwachman-diamond syndrome 1 10.9
28 cystic fibrosis 10.3
29 hypoparathyroidism 10.3
30 gastrinoma 10.2 SST SCT
31 congenital diarrhea 10.2
32 glucagonoma 10.2 SST SCT
33 angiodysplasia 10.2 SST SCT
34 duodenum cancer 10.2 SST SCT
35 duodenum disease 10.2 SST SCT
36 familial apolipoprotein c-ii deficiency 10.1 PNLIP MTTP
37 vipoma 10.1 SST SCT
38 abnormality of glucagon secretion 10.1 SST GCG
39 functionless pituitary adenoma 10.1 SST CCK
40 bile reflux 10.1 SCT CCK
41 postgastrectomy syndrome 10.1 SST GCG
42 agammaglobulinemia 10.1
43 angular cheilitis 10.1 SST GCG
44 cholecystolithiasis 10.1 SST CCK
45 meckel diverticulum 10.1 SST GCG
46 idiopathic malabsorption due to bile acid synthesis defects 10.1
47 pancreatic endocrine carcinoma 10.1 SST GCG
48 non-alcoholic fatty liver disease 10.0
49 osteomalacia 10.0
50 gastrointestinal system disease 10.0

Graphical network of the top 20 diseases related to Bile Acid Malabsorption, Primary:



Diseases related to Bile Acid Malabsorption, Primary

Symptoms & Phenotypes for Bile Acid Malabsorption, Primary

Human phenotypes related to Bile Acid Malabsorption, Primary:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 growth delay 31 HP:0001510
3 chronic diarrhea 31 HP:0002028
4 steatorrhea 31 HP:0002570

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
poor growth

Laboratory Abnormalities:
decreased ldl cholesterol

Abdomen Gastrointestinal:
steatorrhea
watery diarrhea, chronic
increased fecal bile acid
bile acid malabsorption in the ileum

Clinical features from OMIM®:

613291 (Updated 20-May-2021)

UMLS symptoms related to Bile Acid Malabsorption, Primary:


diarrhea

MGI Mouse Phenotypes related to Bile Acid Malabsorption, Primary:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 CCK CFTR ELANE MTTP PNLIP SLC10A2

Drugs & Therapeutics for Bile Acid Malabsorption, Primary

Drugs for Bile Acid Malabsorption, Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Antacids Phase 3
3 Anti-Ulcer Agents Phase 3
4 Proton Pump Inhibitors Phase 3
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6 Cathartics Phase 2
7 Bile Acids and Salts Phase 2
8 Laxatives Phase 2
9 Caseins Phase 2
10 Chelating Agents Phase 2
11
Vitamin K1 Approved, Investigational Phase 1 84-80-0 5284607
12
Menadione Approved, Nutraceutical Phase 1 58-27-5 4055
13 Menaquinone Investigational Phase 1 1182-68-9
14 Micronutrients Phase 1
15 Nutrients Phase 1
16 Trace Elements Phase 1
17 Antifibrinolytic Agents Phase 1
18 Vitamin K Phase 1
19 naphthoquinone Phase 1
20 Coagulants Phase 1
21 Vitamins Phase 1
22 Hemostatics Phase 1

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 MALABSORPTION BLOOD TEST: Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
2 An Open-label, Multicenter, Randomized, Cross-over Study to Compare the Safety and Efficacy of PANZYTRAT® 25,000 to KREON® 25,000 in the Control of Steatorrhea in Subjects Aged 7 Years and Older With Cystic Fibrosis (CF) and Exocrine Pancreatic Insufficiency (EPI) Completed NCT01327703 Phase 4 Panzytrat® 25,000;Kreon® 25,000
3 Exocrine Pancreatic Insufficiency in Pancreatic Cancer: Evaluating the Need and Efficacy of Pancreatic Enzyme Replacement Therapy Withdrawn NCT01401387 Phase 4
4 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center, Crossover Study to Evaluate the Effectiveness and Safety of PANCRECARB® MS-16 (Pancrelipase) in Reducing Steatorrhea in Children and Adults With Cystic Fibrosis Completed NCT00432861 Phase 3 PANCRECARB® (pancrelipase);Placebo
5 Efficacy and Safety of Ultrase® MT20 in Improving the Coefficient of Fat Absorption (CFA%) in Children With Cystic Fibrosis (CF) and Pancreatic Insufficiency (PI) Completed NCT00513682 Phase 3 Ultrase® MT20
6 A Multicenter, Randomized, Double-blind, Parallel, Placebo-controlled, Phase III Study to Assess the Safety and Efficacy of Viokase® 16 for the Correction of Steatorrhea in Patients With Exocrine Pancreatic Insufficiency Completed NCT00559364 Phase 3 Viokase® 16;Placebo;Proton pump inhibitor (PPI);Omeprazole
7 Efficacy and Safety of Ultrase MT12 in the Control of Steatorrhea in Cystic Fibrosis (CF) and Pancreatic Insufficient (PI) Children Aged 2 to 6 Years Old Completed NCT00880100 Phase 3 Ultrase® MT12
8 A Multicenter, Randomized, Double-Blind, Crossover Study to Compare the Safety and Efficacy of Ultrase® MT20 to Placebo for the Correction of Steatorrhea in Patients With Cystic Fibrosis (CF) Completed NCT00408317 Phase 3 Ultrase® MT20;Placebo
9 A Randomized Double-blind (Withdrawal) Phase 3 Study to Evaluate the Efficacy and Tolerability of Pancrelipase MT Capsules Compared With Placebo in the Treatment of Subjects With Cystic Fibrosis-dependent Exocrine Pancreatic Insufficiency Completed NCT00662675 Phase 3 Pancrease MT 10.5, or MT 21;Placebo for Pancrease MT 10.5 or MT 21
10 Double-blind, Cross-over, Randomized, Placebo-controlled, Multi-center Study to Investigate the Effect of Creon®25 000 on the Coefficient of Fat Absorption of HIV-infected Patients Terminated NCT00623025 Phase 3 Creon 25000;Placebo
11 Obeticholic Acid Treatment in Patients With Bile Acid Diarrhoea: an Open-label, Pilot Study of Mechanisms, Safety and Symptom Response. Completed NCT01585025 Phase 2 Obeticholic acid
12 Study of Tolerance and Lipid Digestibility of a Formula in Healthy 3 Months Infants Completed NCT01184378 Phase 2
13 A Phase II, Randomized, Investigator-Blinded, Parallel-Group, Pilot Study Evaluating the Safety, Palatability and Effectiveness of Four Doses of Pancrelipase Microtablets in the Treatment of Infants and Toddlers With Cystic Fibrosis-Related Pancreatic Insufficiency and Fat Malabsorption Completed NCT00217204 Phase 2 Pancrelipase microtablets
14 A Single-Dose, Open-Label, Randomized, Crossover Study to Evaluate Intraduodenal Enzyme Delivery of PANCREASE MT in Subjects With Severe Exocrine Pancreatic Insufficiency Completed NCT00676702 Phase 1 Pancrelipase in combination with Ensure Plus
15 Randomized Study of Pancrelipase With Bicarbonate (PANCRECARB) Capsules in Reducing Steatorrhea in Patients With Cystic Fibrosis Completed NCT00006063 pancrelipase with bicarbonate
16 Effect of Potato Fiber on Appetite and Fecal Fat Excretion Completed NCT02957318
17 Exocrine Pancreatic Insufficiency's Prevalence in Active Crohn's Disease Treated by Biological Therapy Recruiting NCT03915262

Search NIH Clinical Center for Bile Acid Malabsorption, Primary

Cochrane evidence based reviews: steatorrhea

Genetic Tests for Bile Acid Malabsorption, Primary

Genetic tests related to Bile Acid Malabsorption, Primary:

# Genetic test Affiliating Genes
1 Bile Acid Malabsorption, Primary 29 SLC10A2

Anatomical Context for Bile Acid Malabsorption, Primary

MalaCards organs/tissues related to Bile Acid Malabsorption, Primary:

40
Liver, Pancreas, Thyroid, Bone, Adrenal Gland, Pituitary

Publications for Bile Acid Malabsorption, Primary

Articles related to Bile Acid Malabsorption, Primary:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). 6 57 61
9109432 1997
2
Recent advances in the understanding of bile acid malabsorption. 57
19900947 2009
3
Analysis of ileal sodium/bile acid cotransporter and related nuclear receptor genes in a family with multiple cases of idiopathic bile acid malabsorption. 57
17171805 2006
4
Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption. 57
11589382 2001
5
Point mutations in the ileal bile salt transporter cause leaks in the enterohepatic circulation leading to severe chronic diarrhea and malabsorption. 57
9109422 1997
6
Well-compensated primary bile acid malabsorption presenting as chronic nonspecific diarrhea. 57
3944738 1986
7
Primary bile acid malabsorption: defective in vitro ileal active bile acid transport. 57
7106511 1982
8
Refractory infantile diarrhea due to primary bile acid malabsorption. 57
430290 1979
9
The enterohepatic circulation of bile salts. 57
4627839 1972
10
A series of oxysulfides RE2M2S3O4 (RE = Y, Tm; M = Zr, Hf) featuring a unique MS3O4 motif and {[M2S3O4]8-}∞ wrinkle layer. 61
33690763 2021
11
Pressure-induced Pb-Pb bonding and phase transition in Pb2SnO4. 61
33289710 2020
12
Crystal Structure and Physical Properties of the Cage Compound Hf2B2-2δIr5+δ. 61
32946694 2020
13
Two Steps to Improve the Thermoelectric Performance of the Ca5-xYbxAl2-yInySb6 System. 61
32876437 2020
14
Human plasma protein corona decreases the toxicity of pillar-layer metal organic framework. 61
32884004 2020
15
Tumor-Microenvironment-Triggered Ion Exchange of a Metal-Organic Framework Hybrid for Multimodal Imaging and Synergistic Therapy of Tumors. 61
32374492 2020
16
Crystal structures of (η4-cyclo-octa-1,5-diene)bis(1,3-di-methyl-imidazol-2-yl-idene)iridium(I) iodide and (η4-cyclo-octa-1,5-diene)bis-(1,3-di-ethyl-imidazol-2-yl-idene)iridium(I) iodide. 61
32431918 2020
17
Local structure and excitations in systems with CuF64- units: lack of Jahn-Teller effect in the low symmetry compound Na2CuF4. 61
32227047 2020
18
Exploring New Zintl Phases in the 9-4-9 Family via Al Substitution. Synthesis, Structure, and Physical Properties of Ae9Mn4-xAlxSb9 (Ae = Ca, Yb, Eu). 61
32096622 2020
19
Incommensurate crystal structure of PbHfO3. 61
32831234 2020
20
Investigations of the heterometallic ludwigite Ni2AlBO5. 61
31627197 2020
21
Characterization of a high-resolution breath acetone meter for ketosis monitoring. 61
33024634 2020
22
Enhanced electromagnon excitations in Nd-doped BiFeO3 nanoparticles near morphotropic phase boundaries. 61
31531469 2019
23
Anionic Doping and Cationic Site Preference in CaYb4Al2Sb6- xGe x ( x = 0.2, 0.5, 0.7): Origin of the Enhanced Seebeck Coefficient and the Structural Transformation. 61
30985118 2019
24
Chemical and Electrochemical Lithiation of van der Waals Tetrel-Arsenides. 61
30887569 2019
25
Characterizing modulated structures with first-principles calculations: a unified superspace scheme of ordering in mullite. 61
30821259 2019
26
Local insight into the La-induced structural phase transition in multiferroic BiFeO3 ceramics by x-ray absorption fine structure spectroscopy. 61
30523853 2019
27
11B and 89Y solid state MAS NMR spectroscopic investigations of the layered borides YTB4 (T = Mo, W, Re). 61
30605201 2019
28
Complex Low Energy Tetrahedral Polymorphs of Group IV Elements from First Principles. 61
30411915 2018
29
Tb3Pd2, Er3Pd2 and Er6Co5-x: structural variations and bonding in rare-earth-richer binary intermetallics. 61
30191890 2018
30
Photodynamic therapy-mediated remote control of chemotherapy toward synergistic anticancer treatment. 61
30024587 2018
31
Complex Magnetic Ordering in the Oxide Selenide Sr2Fe3Se2O3. 61
30062877 2018
32
Strain-Driven Nanoscale Phase Competition near the Antipolar-Nonpolar Phase Boundary in Bi0.7La0.3FeO3 Thin Films. 61
29637778 2018
33
Li6M(SeO3)4 (M = Co, Ni, and Cd) and Li2Zn(SeO3)2: Selenites with Late Transition-Metal Cations. 61
29513527 2018
34
Li0.93V2.07BO5: a new nano-rod cathode material for lithium ion batteries. 61
29319707 2018
35
Successive Phase Transitions in Fe2+ Ladder Compounds Sr2Fe3Ch2O3 (Ch = S, Se). 61
28972740 2017
36
ScRu2B3 and Sc2RuB6: Borides Featuring a 2D Infinite Boron Clustering. 61
28812877 2017
37
Ordered vacancy distribution in 2/1 mullite: a superspace model. 61
28572548 2017
38
Semiclathrate Hydrates in Tri-n-butylphosphine Oxide (TBPO)-Water and TBPO-Water-Methane Systems. 61
28422511 2017
39
Sequence of phase transitions in (NH4)3SiF7. 61
28157243 2017
40
Quaternary chalcogenides BaRE2In2Ch7 (RE = La-Nd; Ch = S, Se) containing InCh5 trigonal bipyramids. 61
27424487 2016
41
The Ti-Mn system revisited: experimental investigation and thermodynamic modelling. 61
27498605 2016
42
A non-typical sequence of phase transitions in (NH4)3GeF7: optical and structural characterization. 61
26903439 2016
43
Synthesis, Structure, and Complex Magnetism of MIr2In8 (M = Eu, Sr). 61
26949815 2016
44
Synthesis, structure and magnetic ordering of the mullite-type Bi2Fe(4-x)CrxO9 solid solutions with a frustrated pentagonal Cairo lattice. 61
26661379 2016
45
A pseudo-tetragonal tungsten bronze superstructure: a combined solution of the crystal structure of K6.4(Nb,Ta)(36.3)O94 with advanced transmission electron microscopy and neutron diffraction. 61
26646168 2016
46
Switching the Structure Type upon Ag Substitution: Synthesis and Crystal as well as Electronic Structures of Li12AgGe4. 61
26700588 2016
47
Unprecedented transformation of [I(-)·I3(-)] to [I4(2-)] polyiodides in the solid state: structures, phase transitions and characterization of dipyrazolium iodide triiodide. 61
26441208 2015
48
Synthesis, crystal structure and properties of the new superconductors TaRuB and NbOsB. 61
26418029 2015
49
Synthesis and characterization of the rare-earth Dion-Jacobson layered perovskites, APrNb2O7 (A = Rb, Cs and CuCl). 61
25619609 2015
50
Pressure-induced reversible phase transition in thiourea dioxide crystal. 61
26133443 2015

Variations for Bile Acid Malabsorption, Primary

ClinVar genetic disease variations for Bile Acid Malabsorption, Primary:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC10A2 NM_000452.3(SLC10A2):c.728T>C (p.Leu243Pro) SNV Pathogenic 8241 rs121917848 GRCh37: 13:103703640-103703640
GRCh38: 13:103051290-103051290
2 SLC10A2 NM_000452.3(SLC10A2):c.197G>A (p.Trp66Ter) SNV Pathogenic 872454 GRCh37: 13:103718403-103718403
GRCh38: 13:103066053-103066053
3 SLC10A2 NM_000452.3(SLC10A2):c.556del (p.Trp186fs) Deletion Pathogenic 1034224 GRCh37: 13:103704999-103704999
GRCh38: 13:103052649-103052649
4 SLC10A2 NM_000452.3(SLC10A2):c.584_585+1inv Inversion Pathogenic 8242 GRCh37: 13:103704969-103704971
GRCh38: 13:103052619-103052621
5 SLC10A2 NM_000452.3(SLC10A2):c.313T>C (p.Cys105Arg) SNV Uncertain significance 1030807 GRCh37: 13:103718287-103718287
GRCh38: 13:103065937-103065937
6 SLC10A2 NM_000452.3(SLC10A2):c.398C>G (p.Ser133Cys) SNV Uncertain significance 1030808 GRCh37: 13:103710712-103710712
GRCh38: 13:103058362-103058362
7 SLC10A2 NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) SNV Uncertain significance 500243 rs61966074 GRCh37: 13:103701648-103701648
GRCh38: 13:103049298-103049298
8 SLC10A2 NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) SNV Uncertain significance 501874 rs199553519 GRCh37: 13:103718468-103718468
GRCh38: 13:103066118-103066118

UniProtKB/Swiss-Prot genetic disease variations for Bile Acid Malabsorption, Primary:

72
# Symbol AA change Variation ID SNP ID
1 SLC10A2 p.Leu243Pro VAR_004614 rs121917848
2 SLC10A2 p.Thr262Met VAR_004615 rs72547505

Expression for Bile Acid Malabsorption, Primary

Search GEO for disease gene expression data for Bile Acid Malabsorption, Primary.

Pathways for Bile Acid Malabsorption, Primary

Pathways related to Bile Acid Malabsorption, Primary according to KEGG:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976

Pathways related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.77 SST GCG CFTR
2
Show member pathways
11.45 SST SCT PNLIP CFTR CCK
3 11.29 SLC10A2 SCT CFTR
4
Show member pathways
10.98 PNLIP MTTP
5 9.8 SCT CCK

GO Terms for Bile Acid Malabsorption, Primary

Cellular components related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 SST SCT PNLIP GCG ELANE CCK
2 extracellular space GO:0005615 9.1 SST SCT PNLIP GCG ELANE CCK

Biological processes related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 8.96 GCG CFTR
2 digestion GO:0007586 8.62 SST CCK

Molecular functions related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.92 SST SCT GCG CCK

Sources for Bile Acid Malabsorption, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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