HP2
MCID: HYP602
MIFTS: 39

Hyperoxaluria, Primary, Type Ii (HP2)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hyperoxaluria, Primary, Type Ii

MalaCards integrated aliases for Hyperoxaluria, Primary, Type Ii:

Name: Hyperoxaluria, Primary, Type Ii 57 13 55 40
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency 57 24 53 74
D-Glycerate Dehydrogenase Deficiency 57 53 59 74
Primary Hyperoxaluria Type 2 24 53 59 72
Glyceric Aciduria 57 53 74
Hp2 57 53 74
Primary Hyperoxaluria, Type Ii 29 6
L-Glyceric Aciduria 59 74
Oxalosis Ii 57 74
Hyperoxaluria Primary Type Ii 74
Primary Hyperoxaluria Type Ii 74
Hyperoxaluria Primary 2 74
Oxalosis 2 53
Ph2 74

Characteristics:

Orphanet epidemiological data:

59
primary hyperoxaluria type 2
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients may be asymptomatic
onset usually in infancy or early childhood


HPO:

32
hyperoxaluria, primary, type ii:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

MeSH 44 D006960
ICD10 via Orphanet 34 E74.8
UMLS via Orphanet 73 C0268165
Orphanet 59 ORPHA93599
MedGen 42 C0268165
UMLS 72 C0268165

Summaries for Hyperoxaluria, Primary, Type Ii

NIH Rare Diseases : 53 Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.

MalaCards based summary : Hyperoxaluria, Primary, Type Ii, also known as glyoxylate reductase/hydroxypyruvate reductase deficiency, is related to d-glyceric aciduria and primary hyperoxaluria. An important gene associated with Hyperoxaluria, Primary, Type Ii is GRHPR (Glyoxylate And Hydroxypyruvate Reductase). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and ovary, and related phenotypes are nephrocalcinosis and nephrolithiasis

UniProtKB/Swiss-Prot : 74 Hyperoxaluria primary 2: A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease.

More information from OMIM: 260000 PS259900
GeneReviews: NBK2692

Related Diseases for Hyperoxaluria, Primary, Type Ii

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type I Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

Diseases related to Hyperoxaluria, Primary, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 d-glyceric aciduria 13.0
2 primary hyperoxaluria 11.8
3 hyperoxaluria, primary, type iii 11.3
4 pulmonary hypertension, primary, 2 10.6
5 nephrolithiasis, calcium oxalate 10.4
6 microcephaly 10.4
7 hyperoxaluria, primary, type i 10.3
8 glycine encephalopathy 10.3
9 metabolic acidosis 10.3
10 encephalopathy 10.3
11 hypotonia 10.3
12 autosomal recessive disease 10.3
13 hermansky-pudlak syndrome 1 10.3
14 hermansky-pudlak syndrome 2 10.3
15 yemenite deaf-blind hypopigmentation syndrome 10.2
16 branchiootic syndrome 1 10.2
17 west syndrome 10.2
18 cortical blindness 10.2
19 nephrocalcinosis 10.2
20 acute kidney failure 10.2
21 early myoclonic encephalopathy 10.2
22 kidney disease 10.2
23 inherited metabolic disorder 10.2
24 end stage renal failure 10.2
25 cerebral atrophy 10.2
26 atrial standstill 1 10.1
27 sperm protamine p4 10.1
28 spherocytosis, type 1 10.1
29 stroke, ischemic 10.1
30 sickle cell anemia 10.1
31 malaria 10.1
32 spherocytosis, type 2 10.1
33 carotid stenosis 10.1
34 cerebrovascular disease 10.1
35 47,xyy 10.1
36 haemophilus influenzae 10.1
37 hair whorl 10.1
38 pulmonary hypertension, primary, 3 10.1
39 inflammatory bowel disease 10.1
40 colitis 10.1
41 allergic hypersensitivity disease 10.1
42 colon adenocarcinoma 10.1
43 breast adenocarcinoma 10.1
44 thyroid carcinoma 10.1
45 hemolytic uremic syndrome, atypical 1 10.0
46 hemolytic-uremic syndrome 10.0
47 thrombocytopenia 10.0
48 restrictive cardiomyopathy 10.0
49 hemolytic anemia 10.0
50 amyloidosis 10.0

Graphical network of the top 20 diseases related to Hyperoxaluria, Primary, Type Ii:



Diseases related to Hyperoxaluria, Primary, Type Ii

Symptoms & Phenotypes for Hyperoxaluria, Primary, Type Ii

Human phenotypes related to Hyperoxaluria, Primary, Type Ii:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000121
2 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
3 hyperoxaluria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003159
4 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
5 ureteral obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0006000
6 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
7 aminoaciduria 32 HP:0003355
8 hematuria 32 HP:0000790
9 calcium oxalate nephrolithiasis 32 HP:0008672

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
hematuria
nephrocalcinosis
renal failure (in some patients)
calcium oxalate urolithiasis

Laboratory Abnormalities:
increased urinary oxylate
increased urinary l-glycerate
decreased grhpr activity

Clinical features from OMIM:

260000

Drugs & Therapeutics for Hyperoxaluria, Primary, Type Ii

Drugs for Hyperoxaluria, Primary, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Enrolling by invitation NCT04042402 Phase 3 DCR-PHXC
2 A Phase 2 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Recruiting NCT03847909 Phase 2 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
3 Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network Recruiting NCT02026388

Search NIH Clinical Center for Hyperoxaluria, Primary, Type Ii

Genetic Tests for Hyperoxaluria, Primary, Type Ii

Genetic tests related to Hyperoxaluria, Primary, Type Ii:

# Genetic test Affiliating Genes
1 Primary Hyperoxaluria, Type Ii 29 GRHPR

Anatomical Context for Hyperoxaluria, Primary, Type Ii

MalaCards organs/tissues related to Hyperoxaluria, Primary, Type Ii:

41
Kidney, Liver, Ovary, Testes

Publications for Hyperoxaluria, Primary, Type Ii

Articles related to Hyperoxaluria, Primary, Type Ii:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). 9 4 8 71
11030416 2000
2
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2. 38 8 71
24116921 2014
3
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. 9 8 71
10484776 1999
4
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. 38 4 71
14635115 2003
5
Primary hyperoxaluria. 4 71
23944302 2013
6
Primary Hyperoxaluria Type 2 38 71
20301742 2008
7
Primary hyperoxaluria type 2. 38 8
9243228 1997
8
L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families. 38 8
6434867 1984
9
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. 38 4
28681512 2018
10
Calcified nodules on fingers in primary hyperoxaluria type 2. 38 4
26542998 2016
11
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. 38 4
17510093 2007
12
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. 38 4
16597637 2006
13
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. 38 4
16756993 2006
14
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. 38 4
16306119 2005
15
Primary hyperoxaluria type 2 in children. 38 4
12185464 2002
16
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed? 38 4
11477177 2001
17
Kinetic analysis and tissue distribution of human D-glycerate dehydrogenase/glyoxylate reductase and its relevance to the diagnosis of primary hyperoxaluria type 2. 38 4
9463747 1998
18
Primary oxaluria type 2 (L-glyceric aciduria): a rare cause of nephrolithiasis in children. 8
2040928 1991
19
Coenzyme specificity of mammalian liver D-glycerate dehydrogenase. 8
2689175 1989
20
Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria. 8
3974685 1985
21
Hyperoxaluria in L-glyceric aciduria: possible pathogenic mechanism. 8
4321474 1971
22
L-glyceric aciduria. A new genetic variant of primary hyperoxaluria. 8
5635456 1968
23
A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. 4
27924398 2017
24
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 4
22547750 2012
25
Fat malabsorption and increased intestinal oxalate absorption are common after Roux-en-Y gastric bypass surgery. 4
21295813 2011
26
Metabolic syndrome and bariatric surgery in stone disease etiology. 4
21191301 2011
27
The effect of restrictive bariatric surgery on urinary stone risk factors. 4
20381135 2010
28
Effect of dietary changes on urinary oxalate excretion and calcium oxalate supersaturation in patients with hyperoxaluric stone formation. 4
19118878 2009
29
Roux-en-Y gastric bypass is associated with early increased risk factors for development of calcium oxalate nephrolithiasis. 4
18501812 2008
30
Nephrolithiasis after bariatric surgery for obesity. 4
18359397 2008
31
Bariatric surgery, hyperoxaluria, and nephrolithiasis: a plea for close postoperative management of risk factors. 4
17597787 2007
32
Hyperoxaluria in kidney stone formers treated with modern bariatric surgery. 4
17222634 2007
33
Secondary oxalosis due to excess vitamin C intake. 4
17080154 2006
34
Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. 4
16955107 2006
35
Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells. 4
16309382 2006
36
Images in cardiovascular medicine. Cardiomyopathy resulting from primary hyperoxaluria type II. 4
16432059 2006
37
Mitochondrial hydroxyproline metabolism: implications for primary hyperoxaluria. 4
15849464 2005
38
The impact of dietary oxalate on kidney stone formation. 4
15221245 2004
39
A young patient with end-stage renal disease, dyspnoea, weakness, peripheral neuropathy and an unsuspected underlying disease. 4
12897114 2003
40
The primary hyperoxalurias. 4
11518794 2001
41
Phenotypic expression of primary hyperoxaluria: comparative features of types I and II. 4
11135054 2001
42
Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. 4
8865249 1996
43
Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association. 38
30889567 2019
44
Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report. 38
29545831 2018
45
Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. 38
29068142 2018
46
Invited response to recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. 38
29160959 2018
47
Hyperoxaluria, hyperglycoluria and renal oxalosis in Gilbert's potoroos (Potorous gilbertii). 38
28653383 2017
48
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. 38
28569194 2017
49
Up regulation of glyoxylate reductase/hydroxypyruvate reductase (GRHPR) is associated with intestinal epithelial cells apoptosis in TNBS-induced experimental colitis. 38
26997491 2016
50
Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2. 38
24597735 2014

Variations for Hyperoxaluria, Primary, Type Ii

ClinVar genetic disease variations for Hyperoxaluria, Primary, Type Ii:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GRHPR NM_012203.2(GRHPR): c.103del (p.Asp35fs) deletion Pathogenic rs80356708 9:37424861-37424861 9:37424864-37424864
2 GRHPR NM_012203.2(GRHPR): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs119490108 9:37426542-37426542 9:37426545-37426545
3 GRHPR NM_012203.2(GRHPR): c.965T> G (p.Met322Arg) single nucleotide variant Pathogenic rs180177325 9:37436757-37436757 9:37436760-37436760
4 GRHPR NM_012203.2(GRHPR): c.-4_-3delinsAT indel Pathogenic rs796052077 9:37422744-37422745 9:37422747-37422748
5 GRHPR NM_012203.2(GRHPR): c.45del (p.Ala17fs) deletion Pathogenic rs180177311 9:37422792-37422792 9:37422795-37422795
6 GRHPR NM_012203.2(GRHPR): c.246_247TG[1] (p.Val83fs) short repeat Pathogenic rs672601351 9:37425952-37425953 9:37425955-37425956
7 GRHPR NM_012203.2(GRHPR): c.84-2A> G single nucleotide variant Pathogenic rs180177319 9:37424840-37424840 9:37424843-37424843
8 GRHPR NM_012203.2(GRHPR): c.203T> C (p.Leu68Pro) single nucleotide variant Pathogenic rs180177305 9:37424961-37424961 9:37424964-37424964
9 GRHPR NM_012203.2(GRHPR): c.287G> T (p.Arg96Leu) single nucleotide variant Pathogenic rs796052078 9:37425991-37425991 9:37425994-37425994
10 GRHPR NM_012203.2(GRHPR): c.478G> A (p.Gly160Arg) single nucleotide variant Pathogenic rs180177312 9:37428554-37428554 9:37428557-37428557
11 GRHPR NM_012203.1(GRHPR): c.288-2_288delAGT deletion Pathogenic rs796052081 9:37426533-37426535 9:37426536-37426538
12 GRHPR NM_012203.2(GRHPR): c.375del (p.Leu126fs) deletion Pathogenic rs180177308 9:37426622-37426622 9:37426625-37426625
13 GRHPR NM_012203.2(GRHPR): c.540del (p.Leu181fs) deletion Pathogenic rs180177315 9:37429775-37429775 9:37429778-37429778
14 GRHPR NM_012203.2(GRHPR): c.608_609del (p.Pro203fs) deletion Pathogenic rs180177316 9:37430517-37430518 9:37430520-37430521
15 GRHPR NM_012203.2(GRHPR): c.694del (p.Gln232fs) deletion Pathogenic rs796052082 9:37430603-37430603 9:37430606-37430606
16 GRHPR NM_012203.2(GRHPR): c.743T> A (p.Val248Asp) single nucleotide variant Pathogenic rs796052079 9:37432013-37432013 9:37432016-37432016
17 GRHPR NM_012203.2(GRHPR): c.905G> A (p.Arg302His) single nucleotide variant Pathogenic rs180177323 9:37436697-37436697 9:37436700-37436700
18 GRHPR NM_012203.2(GRHPR): c.934A> G (p.Asn312Asp) single nucleotide variant Pathogenic rs180177324 9:37436726-37436726 9:37436729-37436729
19 GRHPR NM_012203.2(GRHPR): c.965T> C (p.Met322Thr) single nucleotide variant Pathogenic rs180177325 9:37436757-37436757 9:37436760-37436760
20 GRHPR NM_012203.2(GRHPR): c.356_369dup (p.Arg124fs) duplication Pathogenic rs1554746962 9:37426597-37426598 9:37426600-37426601
21 GRHPR NM_012203.2(GRHPR): c.404+3_404+6del short repeat Pathogenic/Likely pathogenic rs180177309 9:37426654-37426657 9:37426657-37426660
22 GRHPR NM_012203.1(GRHPR): c.864_865delTG (p.Val289Aspfs) deletion Pathogenic/Likely pathogenic rs180177321 9:37432134-37432135 9:37432137-37432138
23 GRHPR NM_012203.2(GRHPR): c.494G> A (p.Gly165Asp) single nucleotide variant Pathogenic/Likely pathogenic rs180177314 9:37429729-37429729 9:37429732-37429732
24 GRHPR NM_012203.2(GRHPR): c.454dup (p.Thr152fs) duplication Pathogenic/Likely pathogenic rs771019056 9:37428530-37428530 9:37428533-37428533
25 GRHPR NM_012203.2(GRHPR): c.781_782delinsTAC (p.Gly261fs) indel Pathogenic/Likely pathogenic rs1554748528 9:37432050-37432052 9:37432054-37432055
26 GRHPR NM_012203.2(GRHPR): c.863del (p.Cys288fs) deletion Likely pathogenic rs1554748598 9:37432132-37432133 9:37432136-37432136
27 GRHPR NM_012203.2(GRHPR): c.214+1G> C single nucleotide variant Likely pathogenic rs1244822375 9:37424973-37424973 9:37424976-37424976
28 GRHPR NM_012203.2(GRHPR): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1554746094 9:37422748-37422748 9:37422751-37422751
29 GRHPR NM_012203.2(GRHPR): c.215-2_215-1del deletion Likely pathogenic rs1554746793 9:37425916-37425918 9:37425920-37425921
30 GRHPR NM_012203.2(GRHPR): c.735-2del deletion Likely pathogenic rs1257080057 9:37432002-37432003 9:37432006-37432006
31 GRHPR NM_012203.2(GRHPR): c.496del (p.Gln166fs) deletion Likely pathogenic rs1554747871 9:37429729-37429730 9:37429734-37429734
32 GRHPR NM_012203.2(GRHPR): c.598+1G> T single nucleotide variant Likely pathogenic rs111256477 9:37429834-37429834 9:37429837-37429837
33 GRHPR NM_012203.1(GRHPR): c.598+1delG deletion Likely pathogenic rs1554747933 9:37429832-37429833 9:37429837-37429837
34 GRHPR NM_012203.2(GRHPR): c.783dup (p.Lys262Ter) duplication Likely pathogenic rs1554748534 9:37432052-37432052 9:37432056-37432056
35 GRHPR NM_012203.2(GRHPR): c.849dup (p.Thr284fs) duplication Likely pathogenic rs1554748574 9:37432118-37432118 9:37432122-37432122
36 GRHPR NM_012203.2(GRHPR): c.515del (p.Leu172fs) deletion Likely pathogenic rs1057516990 9:37429750-37429750 9:37429753-37429753
37 GRHPR NM_012203.2(GRHPR): c.597del (p.Phe199fs) deletion Likely pathogenic rs1057516292 9:37429832-37429832 9:37429835-37429835
38 GRHPR NM_012203.2(GRHPR): c.755dup (p.Asp252fs) duplication Likely pathogenic rs1057516823 9:37432025-37432025 9:37432028-37432028
39 GRHPR NM_012203.2(GRHPR): c.954del (p.Glu320fs) deletion Likely pathogenic rs1057516831 9:37436746-37436746 9:37436749-37436749
40 GRHPR NM_012203.2(GRHPR): c.1A> T (p.Met1Leu) single nucleotide variant Likely pathogenic rs1554746094 9:37422748-37422748 9:37422751-37422751
41 GRHPR NM_012203.2(GRHPR): c.214+1G> T single nucleotide variant Likely pathogenic rs1244822375 9:37424973-37424973 9:37424976-37424976
42 GRHPR NM_012203.2(GRHPR): c.2T> G (p.Met1Arg) single nucleotide variant Likely pathogenic rs1554746097 9:37422749-37422749 9:37422752-37422752
43 GRHPR NM_012203.2(GRHPR): c.154del (p.Ala52fs) deletion Likely pathogenic rs751101495 9:37424912-37424912 9:37424915-37424915
44 GRHPR NM_012203.2(GRHPR): c.214+2T> G single nucleotide variant Likely pathogenic rs1057517398 9:37424974-37424974 9:37424977-37424977
45 GRHPR NM_012203.2(GRHPR): c.228dup (p.Val77fs) duplication Likely pathogenic rs1057517238 9:37425932-37425932 9:37425935-37425935
46 GRHPR NM_012203.2(GRHPR): c.337G> T (p.Glu113Ter) single nucleotide variant Likely pathogenic rs180177307 9:37426584-37426584 9:37426587-37426587
47 GRHPR NM_012203.2(GRHPR): c.404del (p.Asn135fs) deletion Likely pathogenic rs1057516299 9:37426651-37426651 9:37426654-37426654
48 GRHPR NM_012203.2(GRHPR): c.435_436del (p.Trp145fs) deletion Likely pathogenic rs1057517333 9:37428511-37428512 9:37428514-37428515
49 GRHPR NM_012203.2(GRHPR): c.437_438TG[2] (p.Cys147fs) short repeat Likely pathogenic rs1057517026 9:37428517-37428518 9:37428520-37428521
50 GRHPR NM_012203.2(GRHPR): c.188_189del (p.Val63fs) deletion Likely pathogenic rs1554746565 9:37424944-37424946 9:37424949-37424950

Expression for Hyperoxaluria, Primary, Type Ii

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Pathways for Hyperoxaluria, Primary, Type Ii

GO Terms for Hyperoxaluria, Primary, Type Ii

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