MCID: PSD003
MIFTS: 46

Pseudohypoaldosteronism

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Pseudohypoaldosteronism

MalaCards integrated aliases for Pseudohypoaldosteronism:

Name: Pseudohypoaldosteronism 11 58 75 28 53 5 14 71

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 11 DOID:4479
MeSH 43 D011546
NCIt 49 C85034
SNOMED-CT 68 77098009
UMLS via Orphanet 72 C0033805
Orphanet 58 ORPHA444916
UMLS 71 C0033805

Summaries for Pseudohypoaldosteronism

MalaCards based summary: Pseudohypoaldosteronism is related to pseudohypoaldosteronism type 1 and pseudohypoaldosteronism, type iie. An important gene associated with Pseudohypoaldosteronism is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Enalaprilat and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include Kidney, salivary gland and adrenal gland, and related phenotypes are Decreased caspase 3/7 activity and homeostasis/metabolism

Wikipedia: 75 Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is... more...

Related Diseases for Pseudohypoaldosteronism

Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Type Iic Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type Iie Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive Pseudohypoaldosteronism Type 1
Transient Pseudohypoaldosteronism

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

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism type 1 33.0 SCNN1B SCNN1A
2 pseudohypoaldosteronism, type iie 33.0 KLHL3 CUL3
3 pseudohypoaldosteronism, type iia 32.6 PHA2A KLHL3 CUL3
4 pseudohypoaldosteronism, type i, autosomal dominant 32.6 WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
5 pseudohypoaldosteronism, type ib1, autosomal recessive 32.4 WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
6 arthrogryposis, distal, type 3 31.1 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B REN
7 metabolic acidosis 31.0 WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
8 lipoid congenital adrenal hyperplasia 30.8 SCNN1G SCNN1B SCNN1A REN NR3C2 NR3C1
9 hypertension, essential 30.7 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
10 renal tubular acidosis 30.7 WNK4 SLC12A3 REN
11 miliaria 30.5 SLC12A3 SCNN1G SCNN1B SCNN1A NR3C2 KLHL3
12 miliaria rubra 30.3 WNK4 SLC12A3 SCNN1G SCNN1B SCNN1A NR3C2
13 idiopathic bronchiectasis 30.3 SCNN1G SCNN1B SCNN1A
14 hypokalemia 30.2 WNK4 SLC12A3 REN NR3C2 NR3C1 KCNJ1
15 corticosterone methyloxidase type i deficiency 30.2 SCNN1G REN
16 polyhydramnios 30.2 SLC12A3 REN KCNJ1
17 gitelman syndrome 29.9 WNK4 WNK1 SLC12A3 REN KLHL3 KCNJ1
18 cystic fibrosis 29.9 SGK1 SCNN1G SCNN1B SCNN1A PRSS8 KCNJ1
19 distal arthrogryposis 29.8 WNK4 WNK1 SLC12A3 KLHL3
20 apparent mineralocorticoid excess 29.7 WNK4 SLC12A3 SCNN1B REN NR3C2 KCNJ1
21 bartter disease 29.6 WNK4 WNK1 TRPV5 SLC12A3 SCNN1B REN
22 conn's syndrome 29.4 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
23 liddle syndrome 1 29.1 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
24 pseudohypoaldosteronism, type iid 11.5
25 pseudohypoaldosteronism, type iib 11.4
26 pseudohypoaldosteronism, type iic 11.4
27 pseudohypoaldosteronism, type ib2, autosomal recessive 11.3
28 pseudohypoaldosteronism, type ib3, autosomal recessive 11.3
29 transient pseudohypoaldosteronism 11.2
30 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
31 urinary tract infection 10.6
32 urinary tract obstruction 10.4
33 hypoaldosteronism 10.3
34 bronchiectasis 10.3 SCNN1G SCNN1B SCNN1A
35 premature ovarian failure 7 10.3
36 hydronephrosis 10.3
37 pyelonephritis 10.3
38 corticosterone methyloxidase deficiency 10.3
39 hypertensive retinopathy 10.3 REN NR3C2
40 steroid inherited metabolic disorder 10.3 SCNN1G REN NR3C2
41 hyperchlorhidrosis, isolated 10.2 SCNN1G SCNN1B SCNN1A NR3C2
42 supine hypotensive syndrome 10.2 REN NR3C2
43 atypical depressive disorder 10.2 NR3C2 NR3C1
44 hypomagnesemia 3, renal 10.2 SLC12A3 KLHL3 KCNJ1
45 bartter syndrome, type 3 10.2 SLC12A3 REN KCNJ1
46 vesicoureteral reflux 10.2
47 left bundle branch hemiblock 10.2 REN NR3C2
48 bartter syndrome, type 2, antenatal 10.2 WNK1 SCNN1G SCNN1B KCNJ1
49 hypokalemic periodic paralysis, type 1 10.2 SLC12A3 REN KCNJ1
50 nephrogenic diabetes insipidus 10.2 SLC12A3 REN KCNJ1

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism:



Diseases related to Pseudohypoaldosteronism

Symptoms & Phenotypes for Pseudohypoaldosteronism

GenomeRNAi Phenotypes related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ASIC5 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4
2 no effect GR00402-S-2 10.17 ASIC5 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4
3 Decreased caspase 3/7 activity GR00318-A 9.13 NR3C1 NR3C2 NR4A1

MGI Mouse Phenotypes related to Pseudohypoaldosteronism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4 NR3C1
2 renal/urinary system MP:0005367 10.21 CLDN8 KCNJ1 KLHL3 NR3C1 NR3C2 REN
3 growth/size/body region MP:0005378 10.19 ASIC5 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4
4 normal MP:0002873 10.01 ASIC5 NR3C1 NR4A1 PRSS8 REN SCNN1A
5 cardiovascular system MP:0005385 9.83 CLDN8 CUL3 KCNJ1 KLHL3 NEDD4 NR3C1
6 digestive/alimentary MP:0005381 9.7 NEDD4 NR3C1 PRSS8 SCNN1A SCNN1B SCNN1G
7 mortality/aging MP:0010768 9.44 CUL3 KCNJ1 NEDD4 NR3C1 NR3C2 NR4A1

Drugs & Therapeutics for Pseudohypoaldosteronism

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalaprilat Approved Phase 2 76420-72-9 6917719 5462501
2
Enalapril Approved, Vet_approved Phase 2 75847-73-3 40466924 5388962 5362032
3 Antihypertensive Agents Phase 2
4 Angiotensin-Converting Enzyme Inhibitors Phase 2
5 Polystyrene sulfonic acid Phase 2
6 HIV Protease Inhibitors Phase 2
7
protease inhibitors Phase 2
8 Chelating Agents Phase 2
9 Mineralocorticoids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I Completed NCT00004328 Phase 2 enalapril;polystyrene sulfonate
2 Cardiovascular Evaluation of a Rare Condition With Hyperaldosteronism Without Hypertension: PHA 1 Completed NCT00646828
3 Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests Completed NCT00323167
4 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
5 Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome Recruiting NCT05528744

Search NIH Clinical Center for Pseudohypoaldosteronism

Genetic Tests for Pseudohypoaldosteronism

Genetic tests related to Pseudohypoaldosteronism:

# Genetic test Affiliating Genes
1 Pseudohypoaldosteronism 28

Anatomical Context for Pseudohypoaldosteronism

Organs/tissues related to Pseudohypoaldosteronism:

MalaCards : Kidney, Salivary Gland, Adrenal Gland, Smooth Muscle, Skin, Colon, Skeletal Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pseudohypoaldosteronism:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Distal Tubule Distal Tubule Cells Affected by disease

Publications for Pseudohypoaldosteronism

Articles related to Pseudohypoaldosteronism:

(show top 50) (show all 723)
# Title Authors PMID Year
1
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. 53 62
20064610 2010
2
Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. 53 62
20453518 2010
3
WNK kinases and blood pressure control. 53 62
19895753 2009
4
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. 53 62
19912655 2009
5
Distal potassium handling based on flow modulation of maxi-K channel activity. 53 62
19448535 2009
6
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. 53 62
18547339 2009
7
A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. 53 62
19344080 2009
8
WNK3 and WNK4 amino-terminal domain defines their effect on the renal Na+-Cl- cotransporter. 53 62
18701621 2008
9
A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene. 53 62
19016006 2008
10
Silencing of the mineralocorticoid receptor by ribonucleic acid interference in transgenic rats disrupts endocrine homeostasis. 53 62
18337591 2008
11
Increased urinary Na-Cl cotransporter protein in familial hyperkalaemia and hypertension. 53 62
17951312 2008
12
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. 53 62
17401586 2007
13
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1]. 53 62
17546235 2007
14
Intersectin links WNK kinases to endocytosis of ROMK1. 53 62
17380208 2007
15
An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. 53 62
17360471 2007
16
Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. 53 62
17287415 2007
17
Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. 53 62
17317952 2007
18
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 53 62
16972228 2007
19
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 53 62
16954160 2006
20
Overexpression of human WNK1 increases paracellular chloride permeability and phosphorylation of claudin-4 in MDCKII cells. 53 62
16949040 2006
21
Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. 53 62
16757525 2006
22
WNK1 affects surface expression of the ROMK potassium channel independent of WNK4. 53 62
16775035 2006
23
Protein kinase WNK3 increases cell survival in a caspase-3-dependent pathway. 53 62
16501604 2006
24
WNK1 kinase isoform switch regulates renal potassium excretion. 53 62
16709664 2006
25
WNK1 regulates phosphorylation of cation-chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1. 53 62
16263722 2005
26
Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. 53 62
16301342 2005
27
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 53 62
16207733 2005
28
WNK lies upstream of kinases involved in regulation of ion transporters. 53 62
16173916 2005
29
WNK1 activates SGK1 by a phosphatidylinositol 3-kinase-dependent and non-catalytic mechanism. 53 62
16081417 2005
30
A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. 53 62
15998707 2005
31
WNK1 activates SGK1 to regulate the epithelial sodium channel. 53 62
16006511 2005
32
Properties of WNK1 and implications for other family members. 53 62
15883153 2005
33
WNK kinases and the control of blood pressure. 53 62
15866321 2005
34
Regulation of apical localization of the thiazide-sensitive NaCl cotransporter by WNK4 in polarized epithelial cells. 53 62
15796898 2005
35
Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. 53 62
15986094 2005
36
WNK1: analysis of protein kinase structure, downstream targets, and potential roles in hypertension. 53 62
15686619 2005
37
Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. 53 62
15547682 2004
38
WNK kinases: molecular regulators of integrated epithelial ion transport. 53 62
15300163 2004
39
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. 53 62
15292344 2004
40
Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. 53 62
15126534 2004
41
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. 53 62
15134810 2004
42
WNK1, the kinase mutated in an inherited high-blood-pressure syndrome, is a novel PKB (protein kinase B)/Akt substrate. 53 62
14611643 2004
43
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). 53 62
14715854 2004
44
Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. 53 62
15309683 2004
45
Multiple promoters in the WNK1 gene: one controls expression of a kidney-specific kinase-defective isoform. 53 62
14645531 2003
46
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. 53 62
14610273 2003
47
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 53 62
12959913 2003
48
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 53 62
12788847 2003
49
Genetic variants of WNK4 in whites and African Americans with hypertension. 53 62
12719438 2003
50
[Monogenic hypertension]. 53 62
12715144 2003

Variations for Pseudohypoaldosteronism

ClinVar genetic disease variations for Pseudohypoaldosteronism:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR3C2 NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter) SNV Pathogenic
252501 rs879255348 GRCh37: 4:149356604-149356604
GRCh38: 4:148435452-148435452
2 SCNN1A NM_001038.6(SCNN1A):c.574del (p.Arg192fs) DEL Pathogenic
988230 rs767638989 GRCh37: 12:6472719-6472719
GRCh38: 12:6363553-6363553
3 overlap with 2 genes GRCh37/hg19 4q31.23(chr4:148911418-149103259) CN LOSS Likely Pathogenic
997080 GRCh37: 4:148911418-149103259
GRCh38:

Expression for Pseudohypoaldosteronism

Search GEO for disease gene expression data for Pseudohypoaldosteronism.

Pathways for Pseudohypoaldosteronism

Pathways related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 ASIC5 SCNN1A SCNN1B SCNN1G SGK1 SLC12A3
2
Show member pathways
12.39 SLC12A3 SCNN1G SCNN1B SCNN1A NEDD4
3
Show member pathways
12.38 SCNN1G SCNN1B SCNN1A NR4A1
4
Show member pathways
12.03 WNK4 WNK1 TRPV5 SGK1 SCNN1G SCNN1B
5
Show member pathways
11.78 SCNN1G SCNN1B SCNN1A
6
Show member pathways
11.71 NR4A1 NR3C2 NR3C1
7 11.63 WNK4 WNK1 SGK1 NR4A1
8 11.5 SGK1 NR4A1 NR3C1
9 11.1 SCNN1G SCNN1B SCNN1A PRSS8 NEDD4
10 10.69 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
11 10.55 SCNN1G SCNN1B SCNN1A

GO Terms for Pseudohypoaldosteronism

Cellular components related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.15 ASIC5 CLDN8 CUL3 KCNJ1 NEDD4 NR3C1
2 membrane GO:0016021 10.15 ASIC5 CLDN8 KCNJ1 PRSS8 SCNN1A SCNN1B
3 apical plasma membrane GO:0016324 9.85 TRPV5 SLC12A3 SCNN1G SCNN1B SCNN1A
4 sodium channel complex GO:0034706 9.1 SCNN1G SCNN1B SCNN1A

Biological processes related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 gene expression GO:0010467 10.18 WNK4 SCNN1B NR3C1 KLHL3 CUL3
2 sodium ion import across plasma membrane GO:0098719 10.08 SCNN1G SCNN1B SCNN1A
3 cellular sodium ion homeostasis GO:0006883 10.06 SCNN1G SCNN1B SCNN1A
4 potassium ion homeostasis GO:0055075 10.06 WNK1 SLC12A3 SCNN1B KLHL3
5 monoatomic ion homeostasis GO:0050801 10.04 WNK4 WNK1 KLHL3
6 cellular response to acidic pH GO:0071468 10.03 SCNN1G SCNN1B SCNN1A
7 monoatomic ion transport GO:0006811 10.03 WNK4 WNK1 TRPV5 SLC12A3 SCNN1G SCNN1B
8 multicellular organismal water homeostasis GO:0050891 10.02 SCNN1G SCNN1B SCNN1A
9 sodium ion transport GO:0006814 10.02 ASIC5 SCNN1A SCNN1B SCNN1G SGK1 SLC12A3
10 renal sodium ion absorption GO:0070294 10.01 KLHL3 SGK1 WNK4
11 sensory perception of sour taste GO:0050915 9.99 SCNN1G SCNN1B SCNN1A
12 cellular response to vasopressin GO:1904117 9.97 SCNN1A SCNN1B SCNN1G
13 sodium ion homeostasis GO:0055078 9.97 SLC12A3 SCNN1G SCNN1B SCNN1A
14 negative regulation of sodium ion transport GO:0010766 9.95 WNK4 WNK1 NEDD4
15 cellular chloride ion homeostasis GO:0030644 9.94 WNK4 WNK1
16 intracellular steroid hormone receptor signaling pathway GO:0030518 9.93 NR3C2 NR3C1
17 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.93 WNK4 WNK1
18 positive regulation of potassium ion import across plasma membrane GO:1903288 9.92 WNK4 WNK1
19 glucocorticoid receptor signaling pathway GO:0042921 9.92 NR3C1 NEDD4
20 negative regulation of pancreatic juice secretion GO:0090188 9.91 WNK1 WNK4
21 cellular response to amiloride GO:0036254 9.91 SCNN1A SCNN1B SCNN1G
22 regulation of blood pressure GO:0008217 9.9 REN SCNN1A SCNN1B SCNN1G SGK1 WNK1
23 distal tubule morphogenesis GO:0072156 9.88 KLHL3 WNK4
24 sensory perception of salty taste GO:0050914 9.88 SCNN1A SCNN1B SCNN1G
25 sensory perception of taste GO:0050909 9.78 SCNN1G SCNN1B SCNN1A
26 inorganic cation transmembrane transport GO:0098662 9.77 SCNN1G SCNN1B SCNN1A
27 cellular response to aldosterone GO:1904045 9.56 SGK1 SCNN1G SCNN1B SCNN1A
28 sodium ion transmembrane transport GO:0035725 9.47 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A

Molecular functions related to Pseudohypoaldosteronism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 9.73 NR4A1 NR3C2 NR3C1
2 chloride channel inhibitor activity GO:0019869 9.67 WNK4 WNK1
3 WW domain binding GO:0050699 9.63 SCNN1G SCNN1B SCNN1A
4 potassium channel inhibitor activity GO:0019870 9.62 WNK4 WNK1
5 sodium channel activity GO:0005272 9.35 SCNN1G SCNN1B SCNN1A ASIC5
6 ligand-gated sodium channel activity GO:0015280 9.23 SCNN1G SCNN1B SCNN1A ASIC5

Sources for Pseudohypoaldosteronism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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