DRTA
MCID: DST107
MIFTS: 45

Distal Renal Tubular Acidosis (DRTA)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Distal Renal Tubular Acidosis

MalaCards integrated aliases for Distal Renal Tubular Acidosis:

Name: Distal Renal Tubular Acidosis 53 59 37 29 55
Familial Distal Primary Acidosis 59
Renal Tubular Acidosis Type 1 59
Classic Rta 59
Drta 59

Characteristics:

Orphanet epidemiological data:

59
distal renal tubular acidosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

KEGG 37 H00428
ICD10 via Orphanet 34 N25.8
UMLS via Orphanet 73 C0259810 C1704380
Orphanet 59 ORPHA18

Summaries for Distal Renal Tubular Acidosis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 18DefinitionDistal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.EpidemiologyPrevalence of dRTA is unknown but is often underreported. The hereditary forms of dRTA are more prevalent in areas of high consanguinity (Arabic peninsula and North Africa) whereas acquired dRTA has been reported more frequently in Western countries.Clinical descriptionDisease onset can occur at any age, depending on cause. Hereditary dRTA subtypes include autosomal dominant (AD) and autosomal recessive (AR) dRTA (see these terms). A recessive subtype of dRTA associated with anemia has also been described in Southeast Asia. AR forms are frequently diagnosed in infants and young children. AD dRTA is mostly diagnosed in adolescents and young adults. Patients with dRTA can be asymptomatic or can present with polyuria, polydipsia, weakness and fatigue (symptoms associated with hypokalemia). Failure to thrive, rickets, stunting of growth (seen in children) and osteomalacia or osteopenia (seen in adults) are a result of urinary calcium wastage and a loss of calcium salts from the bones. Hypercalciuria, nephrolithiasis and nephrocalcinosis usually occur. Low plasma potassium levels in those with the classic form of dRTA can also cause cardiac arrhythmias, paralysis and even death. In the recessive forms of dRTA, progressive and irreversible deafness often occurs.EtiologydRTA can be acquired or inherited. AD dRTA is usually due to mutations in the SLC4A1 gene (17q21.31). Mutations in the ATP6V1B1 gene (2p13) or ATP6V0A4 gene (7q34) are responsible for AR dRTA with deafness. AR dRTA without deafness or late onset deafness has been mainly described in patients with mutations in the ATP6V0A4 gene but overlap does exist in that some patients with this mutation develop deafness and others do not. Acquired forms of dRTA are thought to be caused by autoimmune diseases such as Sjogren syndrome (see this term) or secondary to other conditions like sickle cell anemia, systemic lupus erythematosus (see these terms), chronic obstructive uropathy, or post-renal transplantation.Diagnostic methodsThe disease is characterized by hyperchloremic metabolic acidosis. The inability to lower urine pH below 5.5 and a positive urine anion gap during spontaneous metabolic acidosis is indicative of dRTA. Provocative tests for further diagnosis include the NH4Cl acidifying test and the furosemide test. Patients with dRTA also show renal potassium wasting except in the hyperkalemic type of dRTA. Molecular genetic testing for one of the causal genetic mutations can also confirm diagnosis.Differential diagnosisThe main differential diagnosis is proximal RTA (see this term) along with other causes of chronic metabolic acidosis (i.e. diarrhea).Antenatal diagnosisAntenatal diagnosis is rarely performed.Genetic counselingThe inherited forms of dRTA are inherited autosomal dominantly or recessively and genetic counseling is possible.Management and treatmentAlkali therapy is the standard treatment (to achieve normal serum bicarbonate levels). Patients are usually given sodium bicarbonate or sodium citrate. Children require very high doses (4-8 meq/kg/day) whereas adults need much lower doses (1-2 meq/kg/day). Potassium replacement is also necessary in hypokalemic patients and potassium citrate is usually recommended. The dose depends on the severity of hypokalemia. Hyperkalemic types require low dietary potassium intake and other therapies.PrognosisAll forms of dRTA are chronic and may have significant effects on growth and development. With treatment there is no decrease in life expectancy and renal failure is uncommon but progressive chronic kidney disease may sometimes occur if there are recurrent kidney stones and when nephrocalcinosis is very severe.Visit the Orphanet disease page for more resources.

MalaCards based summary : Distal Renal Tubular Acidosis, also known as familial distal primary acidosis, is related to renal tubular acidosis, distal, autosomal recessive and renal tubular acidosis, distal, autosomal dominant. An important gene associated with Distal Renal Tubular Acidosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Collecting duct acid secretion and Metabolism. The drugs Sodium citrate and Potassium Citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related phenotypes are renal/urinary system and taste/olfaction

KEGG : 37
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when the collecting duct fails to remove excess acid into the urine and is characterized by the inability to lower urine pH maximally (below 5.5) in the face of spontaneous acidemia or after acid loading. Autosomal-dominant and -recessive forms of dRTA are caused by mutations in ion transporters of the acid-secreting Type A intercalated cell of the renal collecting duct. These include the AE1 Cl-/HCO3- exchanger of the basolateral membrane and at least two subunits of the apical membrane vacuolar (v)H+-ATPase, the V1 subunit B1 (associated with deafness) and the V0 subunit a4.

Wikipedia : 75 Distal renal tubular acidosis (dRTA) is the classical form of RTA, being the first described. Distal RTA... more...

Related Diseases for Distal Renal Tubular Acidosis

Diseases in the Distal Renal Tubular Acidosis family:

Renal Tubular Acidosis, Distal, Autosomal Dominant Renal Tubular Acidosis, Distal, Autosomal Recessive
Renal Tubular Acidosis, Distal, Type 3

Diseases related to Distal Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, autosomal recessive 32.8 SLC4A1 ATP6V1B1 ATP6V0A4
2 renal tubular acidosis, distal, autosomal dominant 31.7 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
3 medullary sponge kidney 30.1 ATP6V1B1 ATP6V0A4
4 renal tubular acidosis 30.0 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
5 hereditary spherocytosis 30.0 SLC4A1 ATP6V0A4
6 autosomal recessive disease 29.8 ATP6V1B1 ATP6V0A4
7 metabolic acidosis 29.6 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
8 nephrocalcinosis 29.4 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
9 osteopetrosis, autosomal recessive 3 28.5 CA2 ATP6V1B1 ATP6V0A4
10 slc4a1-associated distal renal tubular acidosis 13.1
11 renal tubular acidosis, distal, with progressive nerve deafness 12.5
12 renal tubular acidosis, distal, with hemolytic anemia 12.4
13 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.6
14 hypokalemia 11.0
15 branchiootic syndrome 1 10.8
16 nephrolithiasis, calcium oxalate 10.8
17 sensorineural hearing loss 10.8
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
19 elliptocytosis 2 10.7
20 elliptocytosis 3 10.7
21 ovalocytosis, southeast asian 10.6
22 rickets 10.6
23 hemolytic anemia 10.6
24 periodic paralysis 10.6
25 systemic lupus erythematosus 10.6
26 bone disease 10.6
27 autoimmune disease 10.5
28 liver cirrhosis 10.5
29 hypothyroidism 10.5
30 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
31 osteomalacia 10.5
32 interstitial nephritis 10.5
33 hyperparathyroidism 10.5
34 lupus erythematosus 10.5
35 hypokalemic periodic paralysis, type 1 10.5
36 sjogren syndrome 10.5
37 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.5
38 hereditary elliptocytosis 10.5
39 diabetes insipidus 10.5
40 diabetes insipidus, nephrogenic, autosomal 10.4
41 acute cystitis 10.4
42 osteopetrosis 10.4
43 urinary tract obstruction 10.4
44 thyroiditis 10.4
45 respiratory failure 10.4
46 deficiency anemia 10.3
47 thalassemia 10.3
48 hydronephrosis 10.3
49 primary hyperparathyroidism 10.3
50 pyelonephritis 10.3

Graphical network of the top 20 diseases related to Distal Renal Tubular Acidosis:



Diseases related to Distal Renal Tubular Acidosis

Symptoms & Phenotypes for Distal Renal Tubular Acidosis

MGI Mouse Phenotypes related to Distal Renal Tubular Acidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.26 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
2 taste/olfaction MP:0005394 8.62 ATP6V0A4 ATP6V1B1

Drugs & Therapeutics for Distal Renal Tubular Acidosis

Drugs for Distal Renal Tubular Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 3 68-04-2
2
Potassium Citrate Approved, Investigational, Vet_approved Phase 3
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4 Citrate Phase 3
5 Respiratory System Agents Phase 3
6 diuretics Phase 3
7 Natriuretic Agents Phase 3
8 Expectorants Phase 3
9
Acetazolamide Approved, Vet_approved 59-66-5 1986
10
Fludrocortisone Approved, Investigational 127-31-1 31378
11
Furosemide Approved, Vet_approved 54-31-9 3440
12
Calcium Approved, Nutraceutical 7440-70-2 271
13 Chelating Agents
14 Anticoagulants
15 Anticonvulsants
16 Calcium, Dietary
17 Carbonic Anhydrase Inhibitors
18 Anti-Inflammatory Agents
19 Sodium Potassium Chloride Symporter Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Multicenter, Randomized, Double-Blinded, Placebo-Controlled Withdrawal Study Evaluating ADV7103 In Pediatric and Adult Subjects With Distal Renal Tubular Acidosis (dRTA) Recruiting NCT03644706 Phase 3 ADV7103;Placebos
2 A Phase 3B Open-Label Extension Of Study B23CS (ARENA 2) Evaluating The Continued Safety And Efficacy Of ADV7103 In Subjects With Primary Distal Renal Tubular Acidosis Not yet recruiting NCT03831152 Phase 3 ADV7103
3 Urinary Chemistry and Acid-Base Effects of Potassium Citrate in Children With Idiopathic Hypercalciuria and Urolithiasis Completed NCT00120731 Potassium Citrate;Acetazolamide
4 Comparison of Furosemide/Fludrocortisone With Ammonium Chloride Loading Test in the Diagnosis of Incomplete dRTA in Kidney Stone Formers Completed NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
5 Stone Disease in Children and Their Families Available NCT00765531

Search NIH Clinical Center for Distal Renal Tubular Acidosis

Genetic Tests for Distal Renal Tubular Acidosis

Genetic tests related to Distal Renal Tubular Acidosis:

# Genetic test Affiliating Genes
1 Distal Renal Tubular Acidosis 29

Anatomical Context for Distal Renal Tubular Acidosis

MalaCards organs/tissues related to Distal Renal Tubular Acidosis:

41
Kidney, Testes, Bone, Thyroid, Liver, Brain, Colon

Publications for Distal Renal Tubular Acidosis

Articles related to Distal Renal Tubular Acidosis:

(show top 50) (show all 921)
# Title Authors PMID Year
1
Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis. 9 38
20151848 2010
2
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. 9 38
20028337 2010
3
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. 9 38
20068363 2010
4
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. 9 38
19625994 2009
5
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A. 9 38
18174378 2008
6
Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies. 9 38
18266205 2008
7
The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. 9 38
18368028 2008
8
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis. 9 38
17941824 2008
9
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. 9 38
17533027 2007
10
Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. 9 38
17216496 2007
11
Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1). 9 38
17409310 2007
12
Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron. 9 38
17595521 2007
13
Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis. 9 38
17027918 2006
14
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 9 38
16611712 2006
15
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. 9 38
16252102 2006
16
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. 9 38
16433694 2006
17
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations. 9 38
19565014 2005
18
Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA). 9 38
15649129 2005
19
Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). 9 38
15252044 2004
20
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 9 38
15211439 2004
21
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells. 9 38
14734552 2004
22
Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis. 9 38
14736961 2004
23
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. 9 38
14654610 2003
24
Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. 9 38
14638902 2003
25
Human anion exchanger1 mutations and distal renal tubular acidosis. 9 38
15115146 2003
26
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis. 9 38
12750988 2003
27
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 9 38
12566520 2003
28
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 9 38
12579397 2003
29
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. 9 38
12938018 2003
30
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis. 9 38
14618420 2003
31
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. 9 38
12500243 2003
32
Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. 9 38
12384298 2002
33
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. 9 38
11934690 2002
34
The AE gene family of Cl/HCO3- exchangers. 9 38
12027221 2002
35
Molecular basis of red cell membrane disorders. 9 38
12432217 2002
36
Factors predictive of renal involvement in patients with primary Sjögren's syndrome. 9 38
11499654 2001
37
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 9 38
10973252 2000
38
Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. 9 38
10571775 1999
39
Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis. 9 38
10352205 1999
40
Environmental distal renal tubular acidosis in Thailand: an enigma. 9 38
10352213 1999
41
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9 38
9916796 1999
42
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 9 38
9854053 1998
43
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 9 38
9312167 1997
44
Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. 9 38
9306337 1997
45
An immunocytochemical study of H+ ATPase in kidney transplant rejection. 9 38
9273365 1996
46
Diseases of renal adenosine triphosphatase. 9 38
7825650 1995
47
Renal tubular acidosis as the initial presentation of Sjögren's syndrome. 38
31413059 2019
48
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report. 38
31348261 2019
49
Hyperchloremic normal gap metabolic acidosis. 38
31347344 2019
50
Molecular Pathophysiology of Acid-Base Disorders. 38
31300090 2019

Variations for Distal Renal Tubular Acidosis

Expression for Distal Renal Tubular Acidosis

Search GEO for disease gene expression data for Distal Renal Tubular Acidosis.

Pathways for Distal Renal Tubular Acidosis

Pathways related to Distal Renal Tubular Acidosis according to KEGG:

37
# Name Kegg Source Accession
1 Collecting duct acid secretion hsa04966

Pathways related to Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 SLC4A1 CA2 ATP6V1B1 ATP6V0A4 ATP6V0A2
2
Show member pathways
12.83 SLC4A1 ATP6V1B1 ATP6V0A4 ATP6V0A2
3
Show member pathways
12.47 ATP6V1B1 ATP6V0A4 ATP6V0A2
4
Show member pathways
11.99 ATP6V1B1 ATP6V0A4 ATP6V0A2
5 11.75 ATP6V0A4 ATP6V0A2
6 11.61 ATP6V1B1 ATP6V0A4 ATP6V0A2
7 11.57 ATP6V0A4 ATP6V0A2
8
Show member pathways
11.47 SLC4A1 CA2 ATP6V1B1 ATP6V0A4 ATP6V0A2
9
Show member pathways
11.45 ATP6V1B1 ATP6V0A4 ATP6V0A2
10 11.1 ATP6V1B1 ATP6V0A4 ATP6V0A2
11
Show member pathways
10.91 SLC4A1 CA2

GO Terms for Distal Renal Tubular Acidosis

Cellular components related to Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
2 basolateral plasma membrane GO:0016323 9.43 SLC4A1 CA2 ATP6V1B1
3 apical part of cell GO:0045177 9.4 CA2 ATP6V0A4
4 phagocytic vesicle membrane GO:0030670 9.37 ATP6V0A4 ATP6V0A2
5 microvillus GO:0005902 9.32 CA2 ATP6V1B1
6 proton-transporting V-type ATPase, V0 domain GO:0033179 9.16 ATP6V0A4 ATP6V0A2
7 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 8.96 ATP6V0A4 ATP6V0A2
8 vacuolar proton-transporting V-type ATPase complex GO:0016471 8.8 ATP6V1B1 ATP6V0A4 ATP6V0A2

Biological processes related to Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.61 ATP6V1B1 ATP6V0A4 ATP6V0A2
2 ion transport GO:0006811 9.56 SLC4A1 ATP6V1B1 ATP6V0A4 ATP6V0A2
3 sensory perception of sound GO:0007605 9.54 ATP6V1B1 ATP6V0A4
4 proton transmembrane transport GO:1902600 9.52 ATP6V1B1 ATP6V0A4
5 ossification GO:0001503 9.51 ATP6V1B1 ATP6V0A4
6 regulation of macroautophagy GO:0016241 9.49 ATP6V1B1 ATP6V0A2
7 bicarbonate transport GO:0015701 9.48 SLC4A1 CA2
8 excretion GO:0007588 9.46 ATP6V1B1 ATP6V0A4
9 regulation of intracellular pH GO:0051453 9.4 SLC4A1 CA2
10 regulation of pH GO:0006885 9.37 ATP6V1B1 ATP6V0A4
11 insulin receptor signaling pathway GO:0008286 9.33 ATP6V1B1 ATP6V0A4 ATP6V0A2
12 vacuolar acidification GO:0007035 9.32 ATP6V0A4 ATP6V0A2
13 transferrin transport GO:0033572 9.13 ATP6V1B1 ATP6V0A4 ATP6V0A2
14 ATP hydrolysis coupled proton transport GO:0015991 8.8 ATP6V1B1 ATP6V0A4 ATP6V0A2

Molecular functions related to Distal Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.16 ATP6V0A4 ATP6V0A2
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 8.96 ATP6V0A4 ATP6V0A2
3 proton transmembrane transporter activity GO:0015078 8.8 ATP6V1B1 ATP6V0A4 ATP6V0A2

Sources for Distal Renal Tubular Acidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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