MCID: PRM002
MIFTS: 50

Primary Hyperoxaluria

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

Aliases & Classifications for Primary Hyperoxaluria

MalaCards integrated aliases for Primary Hyperoxaluria:

Name: Primary Hyperoxaluria 12 24 25 56 29 14 69
Hyperoxaluria, Primary 72 24 25 42
Primary Oxalosis 25 69
Hyperoxaluria 42 69
Oxalosis 25 69
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 25
D-Glycerate Dehydrogenase Deficiency 25
Primary Hyperoxaluria, Type I 69
Primary Hyperoxaluria Type 2 69
Hepatic Agt Deficiency 25
Hyperoxaluria Primary 52
Congenital Oxaluria 25
Glycolic Aciduria 25
Glyceric Aciduria 25
Oxaluria, Primary 25
Primary Oxaluria 25

Characteristics:

Orphanet epidemiological data:

56
primary hyperoxaluria
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:2977
ICD10 33 E72.53
NCIt 47 C123158
Orphanet 56 ORPHA416
MESH via Orphanet 43 D006959
UMLS via Orphanet 70 C0020500 C0020501
ICD10 via Orphanet 34 E74.8

Summaries for Primary Hyperoxaluria

Genetics Home Reference : 25 Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.

MalaCards based summary : Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to d-glyceric aciduria and hyperoxaluria, primary, type ii, and has symptoms including bone pain An important gene associated with Primary Hyperoxaluria is HOGA1 (4-Hydroxy-2-Oxoglutarate Aldolase 1), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotype is renal/urinary system.

Wikipedia : 72 Primary hyperoxaluria is a rare, inherited condition, resulting in increased excretion of oxalate, with... more...

Related Diseases for Primary Hyperoxaluria

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type 1 Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 d-glyceric aciduria 12.5
2 hyperoxaluria, primary, type ii 11.8
3 hyperoxaluria, primary, type 1 11.8
4 d-glycericacidemia 11.7
5 hyperoxaluria, primary, type iii 11.3
6 nephrolithiasis, calcium oxalate 10.9
7 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
8 hydroxycarboxylic aciduria 10.9
9 hepatitis 10.2
10 nephrocalcinosis 10.2
11 neutropenia 10.1 AGXT GRHPR
12 congenital disorder of glycosylation, type iig 10.1 AGXT PEX5
13 perinephritis 10.1 AGXT HOGA1
14 pfeiffer mayer syndrome 10.1 AGXT PEX5
15 end stage renal failure 10.1
16 uv-sensitive syndrome 3 10.0 AGXT GRHPR
17 kidney disease 9.9
18 peritonitis 9.9
19 cardiomyopathy 9.9
20 hypothyroidism 9.9
21 retinitis 9.9
22 mixed receptive-expressive language disorder 9.8 AGXT GRHPR
23 pancytopenia 9.8
24 paget's disease of bone 9.7
25 liver cirrhosis 9.6
26 liver disease 9.6
27 nephrolithiasis 9.6
28 renal tubular acidosis 9.6
29 brachydactyly 9.6
30 autosomal recessive disease 9.6
31 thrombosis 9.6
32 choroiditis 9.6
33 patent ductus arteriosus 9.6
34 calcinosis 9.6
35 thrombophilia 9.6
36 cerebritis 9.6
37 arthropathy 9.6
38 restrictive cardiomyopathy 9.6
39 polyradiculoneuropathy 9.6
40 calciphylaxis 9.6
41 adenosine deaminase deficiency 9.6
42 vasculitis 9.6
43 neuropathy 9.6
44 autosomal dominant polycystic kidney disease 9.6
45 polycystic kidney disease 9.6
46 kidney papillary necrosis 6.9 AGXT AGXT2 GRHPR HAO1 HOGA1 PEX5

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



Diseases related to Primary Hyperoxaluria

Symptoms & Phenotypes for Primary Hyperoxaluria

UMLS symptoms related to Primary Hyperoxaluria:


bone pain

MGI Mouse Phenotypes related to Primary Hyperoxaluria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 AGXT AGXT2 GRHPR HOGA1 PEX5

Drugs & Therapeutics for Primary Hyperoxaluria

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

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bone Density Conservation Agents Phase 2, Phase 3
2 Calcium, Dietary Phase 2, Phase 3,Phase 1
3 Protective Agents Phase 3
4
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
5
Pravastatin Approved Phase 2 81093-37-0 54687
6
Zoledronic acid Approved Phase 2 118072-93-8 68740
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8
Pyridoxal Approved, Nutraceutical Phase 2 66-72-8 1050
9
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
10
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
11 Micronutrients Phase 2
12 Pharmaceutical Solutions Phase 2
13 Trace Elements Phase 2
14 Vitamin B 6 Phase 2
15 Vitamin B Complex Phase 2
16 Vitamins Phase 2
17 Antimetabolites Phase 2
18 Gastrointestinal Agents Phase 2
19 Hypolipidemic Agents Phase 2
20 Lipid Regulating Agents Phase 2
21 Histone Deacetylase Inhibitors Phase 2
22 Anticholesteremic Agents Phase 2
23 Diphosphonates Phase 2
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
25 Folate Nutraceutical Phase 2
26
Pyridoxal Phosphate Nutraceutical Phase 2 54-47-7 1051
27 Vitamin B9 Nutraceutical Phase 2
28 leucine Nutraceutical Phase 1, Phase 2
29 Liver Extracts Phase 1
30
Iron Approved 7439-89-6 23925
31
Amoxicillin Approved, Vet_approved 26787-78-0 33613 2171
32
Clarithromycin Approved 81103-11-9 84029
33
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 4594 9579578
34
Metronidazole Approved 443-48-1 4173
35
Tetracycline Approved, Vet_approved 60-54-8 5353990
36 Tocopherol Approved, Nutraceutical
37
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
38 ferric gluconate
39 Hematinics
40 Anti-Bacterial Agents
41 Antibiotics, Antitubercular
42 Antioxidants
43 Tocopherols
44 Tocotrienols
45 Antacids
46 Anti-Infective Agents
47 Antiparasitic Agents
48 Antiprotozoal Agents
49 Anti-Ulcer Agents
50
Bismuth 7440-69-9 16682734 105143

Interventional clinical trials:

(show all 34)

id Name Status NCT ID Phase Drugs
1 Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients Completed NCT00638703 Phase 2, Phase 3 Placebo
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
3 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
4 A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Not yet recruiting NCT03116685 Phase 3
5 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3 ACEI / Angiotensin converting enzyme inhibitor;ARB /Angiotensin Receptor Blocker;Placebo
6 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
7 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Completed NCT02012985 Phase 1, Phase 2 Placebo capsules
8 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
9 Hydroxyproline Influence on Oxalate Metabolism Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
10 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2 vorinostat
11 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Recruiting NCT02000219 Phase 2
12 Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1 Recruiting NCT02706886 Phase 1, Phase 2 ALN-GO1;Sterile Normal Saline (0.9% NaCl)
13 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
14 A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or Hyperoxaluria Withdrawn NCT00490113 Phase 2 Pyridoxamine
15 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225 Phase 1
16 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Active, not recruiting NCT02795325 Phase 1 DCR-PH1
17 Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria Active, not recruiting NCT00588120 Phase 1 C-13 labeled oxalate
18 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
19 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414 L-Canitine
20 Haptoglobin and Diabetes Complications in Pregnancy Unknown status NCT01758016
21 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
22 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
23 Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 Diabetes Completed NCT01098994
24 Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori Eradication Completed NCT01306786 Quadruple therapy;Triple therapy
25 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
26 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
27 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Recruiting NCT02794649
28 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
29 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
30 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
31 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
32 Proteomics of Primary Hyperoxaluria Type 1 Active, not recruiting NCT03067142
33 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
34 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Primary Hyperoxaluria

Cochrane evidence based reviews: hyperoxaluria, primary

Genetic Tests for Primary Hyperoxaluria

Genetic tests related to Primary Hyperoxaluria:

id Genetic test Affiliating Genes
1 Primary Hyperoxaluria 29
2 Hyperoxaluria, Primary 24 HOGA1

Anatomical Context for Primary Hyperoxaluria

MalaCards organs/tissues related to Primary Hyperoxaluria:

39
Kidney, Liver, Bone, Testes, Bone Marrow, Fetal Liver, Skin

Publications for Primary Hyperoxaluria

Articles related to Primary Hyperoxaluria:

(show top 50) (show all 615)
id Title Authors Year
1
Primary hyperoxaluria detected by bone marrow biopsy: case report. ( 28943803 )
2017
2
Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease. ( 28764885 )
2017
3
Clinical spectrum of primary hyperoxaluria typeA 1: Experience of a tertiary center. ( 28161266 )
2017
4
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. ( 28681512 )
2017
5
Late diagnosis of primary hyperoxaluria type III. ( 27742850 )
2017
6
Re: A Randomised Phase I/II Trial to Evaluate the Efficacy and Safety of Orally Administered Oxalobacter formigenes to Treat Primary Hyperoxaluria. ( 28505910 )
2017
7
Combined liver and kidney transplantation in two women with primary hyperoxaluria: Different roads led to different outcomes. ( 28209444 )
2017
8
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. ( 27935012 )
2017
9
Molecular therapy of primary hyperoxaluria. ( 28425073 )
2017
10
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. ( 28718073 )
2017
11
Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria 1. ( 28598458 )
2017
12
Primary hyperoxaluria: spectrum of clinical and imaging findings. ( 27844104 )
2017
13
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. ( 28660284 )
2017
14
Central nervous system involvement in primary hyperoxaluria demonstrated by brain ultrasonography. ( 28728813 )
2017
15
Opposite effect of polymorphic mutations on the electrostatic aggregation of human alanine:glyoxylate aminotransferase: implications for the pathogenesis of Primary Hyperoxaluria Type I. ( 28906061 )
2017
16
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. ( 28711958 )
2017
17
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. ( 28569194 )
2017
18
Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria. ( 28651815 )
2017
19
Primary Hyperoxaluria. ( 28402768 )
2017
20
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. ( 28904440 )
2017
21
Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria. ( 28553045 )
2017
22
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. ( 28619084 )
2017
23
siRNA Therapeutics for Primary Hyperoxaluria: A Beginning. ( 27081720 )
2016
24
DETAILED CLINICAL PHENOTYPING OF OXALATE MACULOPATHY IN PRIMARY HYPEROXALURIA TYPE 1 AND REVIEW OF THE LITERATURE. ( 27135212 )
2016
25
Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation. ( 27345794 )
2016
26
The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country. ( 27424700 )
2016
27
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. ( 27096395 )
2016
28
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I. ( 27993722 )
2016
29
An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1. ( 27061278 )
2016
30
Re: Surgical Management of Stone Disease in Patients with Primary Hyperoxaluria. ( 26699967 )
2016
31
Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed. ( 27215260 )
2016
32
Complexity of pre-emptive liver transplantation in children with primary hyperoxaluria type 1. ( 27292943 )
2016
33
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I. ( 26689264 )
2016
34
Re: Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting prior to Kidney Failure. ( 27321516 )
2016
35
Re: Glycolate Oxidase is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I. ( 27321540 )
2016
36
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1. ( 26609667 )
2016
37
Predictors of Incident ESRD among Patients with Primary Hyperoxaluria Presenting Prior to Kidney Failure. ( 26656319 )
2016
38
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure. ( 27568336 )
2016
39
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. ( 26946417 )
2016
40
Urine oxalate biological variation in patients with primary hyperoxaluria. ( 26857252 )
2016
41
Assessment of Urine Proteomics in Type 1 Primary Hyperoxaluria. ( 27161247 )
2016
42
Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1. ( 26693850 )
2016
43
High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1. ( 27670739 )
2016
44
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. ( 27561601 )
2016
45
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation. ( 27659337 )
2016
46
An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria. ( 27432743 )
2016
47
Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease. ( 27512303 )
2016
48
Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1. ( 26758691 )
2016
49
Primary hyperoxaluria in infants. ( 27215245 )
2016
50
Calcium oxalate crystalluria points to primary hyperoxaluria type 1. ( 26759051 )
2016

Variations for Primary Hyperoxaluria

ClinVar genetic disease variations for Primary Hyperoxaluria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Pathogenic/Likely pathogenic rs201803986 GRCh38 Chromosome 10, 97584810: 97584810

Expression for Primary Hyperoxaluria

Search GEO for disease gene expression data for Primary Hyperoxaluria.

Pathways for Primary Hyperoxaluria

Pathways related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 AGXT AGXT2 GRHPR HAO1 HOGA1 PRODH
2
Show member pathways
13.24 AGXT AGXT2 GRHPR HAO1 PRODH
3 11.42 AGXT HAO1 PEX5
4
Show member pathways
11.19 HOGA1 PRODH PRODH2
5
Show member pathways
11.05 AGXT AGXT2 GRHPR
6 10.95 AGXT AGXT2
7
Show member pathways
10.87 AGXT AGXT2 GRHPR HAO1
8 10.37 AGXT GRHPR HAO1 HOGA1

GO Terms for Primary Hyperoxaluria

Cellular components related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 AGXT AGXT2 HOGA1 PRODH
2 peroxisome GO:0005777 9.43 AGXT HAO1 PEX5
3 mitochondrion GO:0005739 9.43 AGXT AGXT2 HOGA1 PEX5 PRODH PRODH2
4 peroxisomal matrix GO:0005782 8.8 AGXT GRHPR HAO1

Biological processes related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.78 GRHPR HAO1 PRODH PRODH2
2 pyruvate biosynthetic process GO:0042866 9.46 AGXT HOGA1
3 4-hydroxyproline catabolic process GO:0019470 9.43 HOGA1 PRODH
4 proline catabolic process GO:0006562 9.4 PRODH PRODH2
5 proline metabolic process GO:0006560 9.37 PRODH PRODH2
6 cellular nitrogen compound metabolic process GO:0034641 9.33 AGXT GRHPR HAO1
7 proline catabolic process to glutamate GO:0010133 9.32 PRODH PRODH2
8 glycine biosynthetic process, by transamination of glyoxylate GO:0019265 9.26 AGXT AGXT2
9 glyoxylate catabolic process GO:0009436 9.13 AGXT AGXT2 HOGA1
10 glyoxylate metabolic process GO:0046487 8.92 AGXT AGXT2 HOGA1 PRODH2

Molecular functions related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 GRHPR HAO1 PRODH PRODH2
2 pyridoxal phosphate binding GO:0030170 9.37 AGXT AGXT2
3 transaminase activity GO:0008483 9.26 AGXT AGXT2
4 FAD binding GO:0071949 9.16 PRODH PRODH2
5 alanine-glyoxylate transaminase activity GO:0008453 8.96 AGXT AGXT2
6 proline dehydrogenase activity GO:0004657 8.62 PRODH PRODH2

Sources for Primary Hyperoxaluria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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