DA3
MCID: PSD020
MIFTS: 57

Pseudohypoaldosteronism Type Ii (DA3) malady

Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Cardiovascular diseases categories
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Summaries for Pseudohypoaldosteronism Type Ii

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Gordon syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. intelligence is usually normal. in some cases, additional abnormalities such as scoliosis or undescended testicles in males may be present. the range and severity of symptoms may vary from case to case. gordon syndrome is thought to be inherited in an autosomal dominant or x-linked dominant manner. the exact cause remains unknown. last updated: 12/5/2012

MalaCards: Pseudohypoaldosteronism Type Ii, also known as pseudohypoaldosteronism type 2, is related to pseudohypoaldosteronism and hypertension, and has symptoms including camptodactyly of fingers, clinodactyly of fifth finger and facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy. An important gene associated with Pseudohypoaldosteronism Type Ii is PIEZO2 (piezo-type mechanosensitive ion channel component 2), and among its related pathways are PI3K / Akt Signaling and Aldosterone-regulated sodium reabsorption. The compounds bendroflumethiazide and amg 9810 have been mentioned in the context of this disorder. Affiliated tissues include testes and bone, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Genetics Home Reference:21 Pseudohypoaldosteronism type 2 (PHA2) is a condition characterized by problems regulating the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.

Description from OMIM:47 114300

GeneReviews summary for pha2

Aliases & Classifications for Pseudohypoaldosteronism Type Ii

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
gordon syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

pseudohypoaldosteronism type ii 19 21
pseudohypoaldosteronism type 2 19 43 20 22 21
gordon syndrome 43 45 49
gordon hyperkalemia-hypertension syndrome 43 21
distal arthrogryposis type 3 43 49
pha2 19 43
arthrogryposis multiplex congenita, distal, type iia 62
arthrogryposis multiplex congenita distal type 2a 43
hyperpotassemia and hypertension, familial 62
camptodactyly, cleft palate, and clubfoot 43
hyperpotassemia and hypertension familial 43
familial hyperpotassemia and hypertension 21
camptodactyly - cleft palate- clubfoot 49
familial hypertensive hyperkalemia 21
familial hyperkalemiahypertension 19
pseudohypoaldosteronism, type ii 62
arthrogryposis, distal, type 3 47
distal arthrogryposis syndrome 62
distal arthrogryposis type iia 49
arthrogryposis distal type 3 43
chloride shunt syndrome 43
gordon’s syndrome 19
phaii 19
da3 43


External Ids:

OMIM47 114300
MESH via Orphanet36 C537288
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet59 237850008

Related Diseases for Pseudohypoaldosteronism Type Ii

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17GeneCards, 18GeneDecks
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Diseases in the Pseudohypoaldosteronism Type Iib family:

Pseudohypoaldosteronism pseudohypoaldosteronism type ii
Pseudohypoaldosteronism Type Iic Pseudohypoaldosteronism Type Iie
Pseudohypoaldosteronism Type Iid Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism, Type Iia Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism Type Ii via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoaldosteronism31.1SLC12A3, WNK4, WNK1, REN, SCNN1A, KCNJ1
2hypertension30.6SCNN1A, REN, WNK1, WNK4, SLC12A3
3pseudohypoaldosteronism type iib10.4
4cleft palate10.2
5distal arthrogryposis10.2
6keratoderma palmoplantar spastic paralysis10.2
7renal tubular acidosis10.2
8familial hypertension10.2
9hyperkalemic periodic paralysis10.2
10bartter disease10.1KCNJ1
11aase-smith syndrome10.1
12arthrogryposis multiplex congenita distal type 110.1
13distal arthrogryposis type 510.1
14dominant cleft palate10.1
15pseudohypoaldosteronism type iid10.1
16autonomic neuropathy10.1REN
17liddle syndrome10.1WNK4, SCNN1A
18hypervitaminosis d10.0TRPV5, TRPV6
19bartter syndrome, type 210.0REN, KCNJ1
20stroke, ischemic10.0SLC12A3, REN
21metabolic acidosis10.0WNK4, REN
22bartter syndrome type 310.0KCNJ1, REN, SLC12A3
23hyperaldosteronism10.0SLC12A3, REN, KCNJ1
24hypokalemia10.0KCNJ1, REN, SLC12A3
25gitelman syndrome10.0SLC12A3, WNK1, REN, KCNJ1
26primary hyperoxaluria9.9SLC12A3, REN, KCNJ1
27essential hypertension9.9REN, WNK1, WNK4, SLC12A3, TRPC5

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism Type Ii:



Diseases related to pseudohypoaldosteronism type ii

Symptoms for Pseudohypoaldosteronism Type Ii

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

114300

Clinical features from OMIM:

114300

Symptoms:

49 (show all 15)
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • talipes-varus/metatarsal varus
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • short stature/dwarfism/nanism
  • restricted joint mobility/joint stiffness/ankylosis
  • hearing loss/hypoacusia/deafness
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • scoliosis
  • syndactyly of fingers/interdigital palm
  • pectus excavatum

Drugs & Therapeutics for Pseudohypoaldosteronism Type Ii

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Pseudohypoaldosteronism Type Ii

Search NIH Clinical Center for Pseudohypoaldosteronism Type Ii

Genetic Tests for Pseudohypoaldosteronism Type Ii

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20GeneTests, 22GTR
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Genetic tests related to Pseudohypoaldosteronism Type Ii:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type Ii20 WNK4
2 Pseudohypoaldosteronism, Type 222

Anatomical Context for Pseudohypoaldosteronism Type Ii

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33MalaCards
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MalaCards organs/tissues related to Pseudohypoaldosteronism Type Ii:

33
Testes, Bone

Animal Models for Pseudohypoaldosteronism Type Ii or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type Ii:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.7SLC12A3, WNK4, WNK1, REN, KCNJ1
2MP:00053867.6KCNJ1, SCNN1A, REN, TRPV6, TRPV5, TRPC5
3MP:00053677.5TRPV5, KCNJ1, SCNN1A, REN, WNK1, WNK4
4MP:00053787.4KCNJ1, SCNN1A, CUL3, REN, WNK1, TRPV6
5MP:00053766.9KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3

Publications for Pseudohypoaldosteronism Type Ii

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52PubMed
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Articles related to Pseudohypoaldosteronism Type Ii:

(show all 18)
idTitleAuthorsYear
1
Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Questions. (24396028)
2014
2
CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. (23689903)
2013
3
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). (23336180)
2013
4
A molecular update on pseudohypoaldosteronism type II. (24107425)
2013
5
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. (23902721)
2013
6
Phenotypes of pseudohypoaldosteronism type II caused by the WNK4 D561A missense mutation are dependent on the WNK-OSR1/SPAK kinase cascade. (21486947)
2011
7
Identification of a novel WNK4 mutation in Chinese patients with pseudohypoaldosteronism type II. (21196779)
2011
8
Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. (20181799)
2010
9
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. (19016006)
2008
10
Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. (17488636)
2007
11
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. (15998707)
2005
12
Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. (12107233)
2002
13
A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238)
2000
14
Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (9171836)
1997
15
Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. (9492109)
1997
16
Pseudohypoaldosteronism Type II (22073419)
1993
17
Syndrome of hypertension and hyperkalemia with normal GFR (Gordon's syndrome: pseudohypoaldosteronism type II). (8143511)
1993
18
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. (3777034)
1986

Variations for Pseudohypoaldosteronism Type Ii

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Pseudohypoaldosteronism Type Ii:

1 (show all 41)
id Gene Name Type Significance SNP ID Assembly Location
1CUL3NM_003590.4(CUL3): c.1207-12T> Gsingle nucleotide variantPathogenicrs199469651GRCh37Chr 2, 225368551: 225368551
2CUL3NM_003590.4(CUL3): c.1207-1G> Asingle nucleotide variantPathogenicrs199469654GRCh37Chr 2, 225368540: 225368540
3CUL3NM_003590.4(CUL3): c.1207-26A> Gsingle nucleotide variantPathogenicrs199469650GRCh37Chr 2, 225368565: 225368565
4CUL3NM_003590.4(CUL3): c.1207-28T> Gsingle nucleotide variantPathogenicrs199469649GRCh37Chr 2, 225368567: 225368567
5CUL3NM_003590.4(CUL3): c.1207-3C> Tsingle nucleotide variantPathogenicrs199469653GRCh37Chr 2, 225368542: 225368542
6CUL3NM_003590.4(CUL3): c.1207-5T> Asingle nucleotide variantPathogenicrs199469652GRCh37Chr 2, 225368544: 225368544
7CUL3NM_003590.4(CUL3): c.1236G> A (p.Leu412=)single nucleotide variantPathogenicrs199469655GRCh37Chr 2, 225368510: 225368510
8CUL3NM_003590.4(CUL3): c.1376A> G (p.Lys459Arg)single nucleotide variantPathogenicrs199469658GRCh37Chr 2, 225368370: 225368370
9CUL3NM_003590.4: c.1376_1377+4delAGGTAAdeletionPathogenicrs199469657GRCh37Chr 2, 225368365: 225368370
10CUL3NM_003590.4(CUL3): c.1377dupG (p.Thr460Aspfs)duplicationPathogenicrs199469659GRCh37Chr 2, 225368369: 225368370
11CUL3NM_003590.4(CUL3): c.1377+1G> Csingle nucleotide variantPathogenicrs199469660GRCh37Chr 2, 225368368: 225368368
12CUL3NM_003590.4(CUL3): c.1377+3A> Gsingle nucleotide variantPathogenicrs199469661GRCh37Chr 2, 225368366: 225368366
13KLHL3NM_017415.2(KLHL3): c.1410G> A (p.Trp470Ter)single nucleotide variantPathogenicrs199469644GRCh37Chr 5, 136969766: 136969766
14KLHL3NM_017415.2(KLHL3): c.721delC (p.Leu241Phefs)deletionPathogenicrs199469647GRCh37Chr 5, 136997636: 136997636
15KLHL3NM_017415.2(KLHL3): c.753+1G> Asingle nucleotide variantPathogenicrs199469648GRCh37Chr 5, 136997603: 136997603
16KLHL3NM_017415.2(KLHL3): c.1019C> T (p.Ala340Val)single nucleotide variantPathogenicrs199469628GRCh37Chr 5, 136975551: 136975551
17KLHL3NM_017415.2(KLHL3): c.1480G> A (p.Ala494Thr)single nucleotide variantPathogenicrs199469633GRCh37Chr 5, 136964097: 136964097
18KLHL3NM_017415.2(KLHL3): c.230C> A (p.Ala77Glu)single nucleotide variantPathogenicrs199469623GRCh37Chr 5, 137045450: 137045450
19KLHL3NM_017415.2(KLHL3): c.491G> T (p.Cys164Phe)single nucleotide variantPathogenicrs199469626GRCh37Chr 5, 137028009: 137028009
20KLHL3NM_017415.2(KLHL3): c.254A> C (p.Glu85Ala)single nucleotide variantPathogenicrs199469625GRCh37Chr 5, 137034085: 137034085
21KLHL3NM_017415.2(KLHL3): c.1160T> C (p.Leu387Pro)single nucleotide variantPathogenicrs199469630GRCh37Chr 5, 136974701: 136974701
22KLHL3NM_017415.2(KLHL3): c.1280T> C (p.Met427Thr)single nucleotide variantPathogenicrs199469642GRCh37Chr 5, 136973024: 136973024
23KLHL3NM_017415.2(KLHL3): c.232A> G (p.Met78Val)single nucleotide variantPathogenicrs199469624GRCh37Chr 5, 137045448: 137045448
24KLHL3NM_017415.2(KLHL3): c.1501C> A (p.Pro501Thr)single nucleotide variantPathogenicrs199469634GRCh37Chr 5, 136964076: 136964076
25KLHL3NM_017415.2(KLHL3): c.430C> T (p.Gln144Ter)single nucleotide variantPathogenicrs199469637GRCh37Chr 5, 137028070: 137028070
26KLHL3NM_017415.2(KLHL3): c.926A> G (p.Gln309Arg)single nucleotide variantPathogenicrs199469627GRCh37Chr 5, 136975644: 136975644
27KLHL3NM_017415.2(KLHL3): c.1151G> A (p.Arg384Gln)single nucleotide variantPathogenicrs199469629GRCh37Chr 5, 136974710: 136974710
28KLHL3NM_017415.2(KLHL3): c.1292G> A (p.Arg431Gln)single nucleotide variantPathogenicrs199469643GRCh37Chr 5, 136973012: 136973012
29KLHL3NM_017415.2(KLHL3): c.1723C> T (p.Arg575Trp)single nucleotide variantPathogenicrs199469646GRCh37Chr 5, 136961454: 136961454
30KLHL3NM_017415.2(KLHL3): c.1295G> A (p.Ser432Asn)single nucleotide variantPathogenicrs199469631GRCh37Chr 5, 136973009: 136973009
31PIEZO2PIEZO2, 8-BP DEL, NT8238deletionPathogenic
32PIEZO2NM_022068.3(PIEZO2): c.8057G> A (p.Arg2686His)single nucleotide variantPathogenicGRCh38Chr 18, 10671729: 10671729
33CUL3NM_003590.4(CUL3): c.1238A> G (p.Asp413Gly)single nucleotide variantPathogenicrs199469656GRCh37Chr 2, 225368508: 225368508
34KLHL3NM_017415.2(KLHL3): c.965T> G (p.Phe322Cys)single nucleotide variantPathogenicrs199469639GRCh37Chr 5, 136975605: 136975605
35KLHL3NM_017415.2(KLHL3): c.1229C> T (p.Ser410Leu)single nucleotide variantPathogenicrs199469641GRCh37Chr 5, 136973075: 136973075
36KLHL3NM_017415.2(KLHL3): c.1583G> A (p.Arg528His)single nucleotide variantPathogenicrs199469636GRCh37Chr 5, 136963994: 136963994
37KLHL3NM_017415.2(KLHL3): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs199469638GRCh37Chr 5, 136997639: 136997639
38KLHL3NM_017415.2(KLHL3): c.1007G> T (p.Arg336Ile)single nucleotide variantPathogenicrs199469640GRCh37Chr 5, 136975563: 136975563
39KLHL3NM_017415.2(KLHL3): c.1670A> G (p.Tyr557Cys)single nucleotide variantPathogenicrs199469645GRCh37Chr 5, 136961507: 136961507
40KLHL3NM_017415.2(KLHL3): c.1582C> T (p.Arg528Cys)single nucleotide variantPathogenicrs199469635GRCh37Chr 5, 136963995: 136963995
41KLHL3NM_017415.2(KLHL3): c.1298G> A (p.Ser433Asn)single nucleotide variantPathogenicrs199469632GRCh37Chr 5, 136973006: 136973006

Expression for genes affiliated with Pseudohypoaldosteronism Type Ii

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohypoaldosteronism Type Ii

Search GEO for disease gene expression data for Pseudohypoaldosteronism Type Ii.

Pathways for genes affiliated with Pseudohypoaldosteronism Type Ii

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Sources:
50PathCards, 5Cell Signaling Technology, 30KEGG, 12EMD Millipore, 55Reactome, 51PharmGKB
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Pathways related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9WNK4, WNK1
29.7SCNN1A, KCNJ1
3
Show member pathways
9.5TRPC5, SCNN1A
49.1TRPV6, TRPV5, TRPC5
59.1TRPC5, TRPV5, TRPV6
68.8SLC12A3, WNK4, WNK1, SCNN1A, KCNJ1
7
Show member pathways
8.1SCNN1A, WNK1, WNK4, TRPV6, TRPV5, TRPC5
8
Show member pathways
7.8SCNN1A, WNK1, WNK4, SLC12A3, TRPV6, TRPV5

Compounds for genes affiliated with Pseudohypoaldosteronism Type Ii

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB, 51PharmGKB
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Compounds related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1bendroflumethiazide45 1110.9SLC12A3, REN
2amg 9810619.9TRPV6, TRPV5
35-iodoresiniferatoxin61 2910.9TRPV6, TRPV5
4hc 067047619.9TRPV6, TRPV5
5capsazepine61 45 2911.9TRPV6, TRPV5
6ruthenium red299.9TRPV6, TRPV5
7mg2+299.8TRPV6, TRPV5
8chlorine45 2410.8WNK1, WNK4, SLC12A3
9diazoxide45 61 29 1112.8KCNJ1, SLC12A3
10la3+299.6TRPC5, TRPV6
11amiloride45 29 1111.6REN, SCNN1A
122-apb29 6110.6TRPC5, TRPV6
13anandamide61 45 29 2412.5TRPV5, TRPV6
14furosemide45 61 29 51 24 1114.4SLC12A3, REN
15hydrochlorothiazide45 29 51 24 1113.3KCNJ1, REN, WNK1, SLC12A3
16magnesium45 24 1111.3KCNJ1, WNK1, WNK4, TRPV5
17chloride459.0KCNJ1, REN, WNK1, WNK4, SLC12A3
18potassium45 24 1111.0KCNJ1, REN, WNK1, WNK4, SLC12A3
19thiazide459.0SLC12A3, WNK4, WNK1, REN, SCNN1A
20lysine458.9KCNJ1, CUL3, WNK1, WNK4, SLC12A3
21nacl458.7KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3
22sodium45 249.6KCNJ1, SCNN1A, REN, WNK1, WNK4, SLC12A3
23calcium45 51 24 1111.1TRPC5, TRPV5, TRPV6, SLC12A3, WNK1, REN

GO Terms for genes affiliated with Pseudohypoaldosteronism Type Ii

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16Gene Ontology
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Cellular components related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.4TRPV5, SLC12A3, SCNN1A
2integral component of plasma membraneGO:0058878.3TRPC5, TRPV5, TRPV6, SLC12A3, SCNN1A
3plasma membraneGO:0058867.2KCNJ1, SCNN1A, REN, SLC12A3, TRPV6, TRPV5

Biological processes related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1regulation of cellular processGO:05079410.1WNK4, WNK1
2negative regulation of pancreatic juice secretionGO:09018810.1WNK4, WNK1
3renal sodium ion absorptionGO:07029410.0KCNJ1, WNK4
4chloride transportGO:0068219.8WNK4, SLC12A3
5sodium ion transmembrane transportGO:0357259.7SLC12A3, SCNN1A
6ion transportGO:0068119.6SLC12A3, WNK4, WNK1
7excretionGO:0075889.6SCNN1A, KCNJ1
8sodium ion transportGO:0068149.4SLC12A3, SCNN1A
9calcium ion transmembrane transportGO:0705889.3TRPC5, TRPV5, TRPV6
10calcium ion transportGO:0068169.2TRPC5, TRPV5, TRPV6
11ion transmembrane transportGO:0342209.0TRPC5, TRPV5, TRPV6, SCNN1A
12transmembrane transportGO:0550858.6SCNN1A, SLC12A3, TRPV6, TRPV5, TRPC5

Molecular functions related to Pseudohypoaldosteronism Type Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel inhibitor activityGO:0198699.6WNK4, WNK1
2calcium channel activityGO:0052629.0TRPC5, TRPV5, TRPV6
3protein bindingGO:0055157.1CUL3, WNK1, WNK4, SLC12A3, TRPV6, TRPV5

Products for genes affiliated with Pseudohypoaldosteronism Type Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoaldosteronism Type Ii

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet