MCID: HRD217
MIFTS: 36

Hereditary Optic Neuropathy

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Optic Neuropathy

MalaCards integrated aliases for Hereditary Optic Neuropathy:

Name: Hereditary Optic Neuropathy 58 29

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Orphanet 58 ORPHA98671

Summaries for Hereditary Optic Neuropathy

MalaCards based summary : Hereditary Optic Neuropathy is related to leber optic atrophy and dystonia and scotoma. An important gene associated with Hereditary Optic Neuropathy is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases. The drugs Curcumin and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle.

Related Diseases for Hereditary Optic Neuropathy

Diseases in the Hereditary Optic Neuropathy family:

Autoimmune/inflammatory Optic Neuropathy

Diseases related to Hereditary Optic Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 246)
# Related Disease Score Top Affiliating Genes
1 leber optic atrophy and dystonia 32.9 MT-ND6 MT-ND4 MT-ND1
2 scotoma 31.2 MT-ND6 MT-ND4
3 3-methylglutaconic aciduria, type iii 30.9 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-ATP6
4 optic neuritis 30.7 MT-ND6 MT-ND4
5 mitochondrial metabolism disease 30.5 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
6 mitochondrial complex i deficiency, nuclear type 1 30.5 MT-ND6 MT-ND4L MT-ND4 MT-ND2 MT-ND1 MT-CO3
7 leber hereditary optic neuropathy, modifier of 30.4 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
8 deafness, nonsyndromic sensorineural, mitochondrial 30.3 MT-ND4 MT-ND1
9 dystonia 30.2 MT-ND6 MT-ND4 MT-ND1 MT-CYB
10 toxic optic neuropathy 30.2 MT-ND6 MT-ND4
11 optic atrophy 4 30.2 MT-ND6 MT-ND4
12 peripheral nervous system disease 30.1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
13 mitochondrial disorders 29.7 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO3 MT-ATP6
14 early myoclonic encephalopathy 29.5 MT-ND6 MT-ND5 MT-ND4 MT-ATP6
15 neuropathy 29.4 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
16 optic nerve disease 29.4 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
17 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 29.4 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
18 sensorineural hearing loss 29.4 MT-ND6 MT-ND5 MT-CYB MT-ATP6
19 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.0 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
20 hypertrophic cardiomyopathy 28.8 MT-ND1 MT-CYB MT-CO3 MT-ATP6
21 myopathy 28.7 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB MT-CO3
22 leber plus disease 28.6 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
23 retinitis pigmentosa 28.4 MT-ND6 MT-ND4 MT-ND1 MT-CYB MT-CO3 MT-ATP6
24 lactic acidosis 28.4 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CYB MT-CO3
25 chronic progressive external ophthalmoplegia 28.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND1 MT-CYB
26 leigh syndrome 27.9 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
27 kearns-sayre syndrome 27.6 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
28 mitochondrial myopathy 27.6 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
29 mitochondrial encephalomyopathy 27.2 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
30 leber hereditary optic neuropathy with demyelinating disease of cns 11.4
31 mitochondrial complex iv deficiency, nuclear type 1 11.2
32 syndromic hereditary optic neuropathy 11.2
33 optic atrophy 1 11.2
34 mitochondrial complex i deficiency, mitochondrial type 1 11.1
35 mitochondrial complex iii deficiency, nuclear type 1 11.1
36 mitochondrial complex ii deficiency, nuclear type 1 11.1
37 mitochondrial complex i deficiency, nuclear type 12 11.1
38 mitochondrial complex i deficiency, nuclear type 30 11.1
39 mitochondrial complex v deficiency, nuclear type 1 11.1
40 mitochondrial complex i deficiency, nuclear type 6 11.1
41 mitochondrial complex i deficiency, nuclear type 7 11.1
42 mitochondrial complex i deficiency, nuclear type 8 11.1
43 mitochondrial complex i deficiency, nuclear type 9 11.1
44 mitochondrial complex i deficiency, nuclear type 10 11.1
45 mitochondrial complex i deficiency, nuclear type 11 11.1
46 mitochondrial complex i deficiency, nuclear type 13 11.1
47 mitochondrial complex i deficiency, nuclear type 14 11.1
48 mitochondrial complex i deficiency, nuclear type 15 11.1
49 mitochondrial complex i deficiency, nuclear type 16 11.1
50 mitochondrial complex i deficiency, nuclear type 17 11.1

Graphical network of the top 20 diseases related to Hereditary Optic Neuropathy:



Diseases related to Hereditary Optic Neuropathy

Symptoms & Phenotypes for Hereditary Optic Neuropathy

Drugs & Therapeutics for Hereditary Optic Neuropathy

Drugs for Hereditary Optic Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
2
Bezafibrate Approved, Investigational Phase 2, Phase 3 41859-67-0 39042
3 Antirheumatic Agents Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Analgesics, Non-Narcotic Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 3
7 Analgesics Phase 3
8 Lipid Regulating Agents Phase 2, Phase 3
9 Antimetabolites Phase 2, Phase 3
10 Hypolipidemic Agents Phase 2, Phase 3
11 Pharmaceutical Solutions Phase 3
12 Anesthetics Phase 3
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
15 Antifungal Agents Phase 2
16 Immunosuppressive Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Immunologic Factors Phase 2
19 Cyclosporins Phase 2
20 Dermatologic Agents Phase 2
21 Calcineurin Inhibitors Phase 2
22 Ophthalmic Solutions Phase 2
23
Triamcinolone Approved, Vet_approved 124-94-7 31307
24
Tocopherol Approved, Investigational 1406-66-2
25
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
26 Tocotrienol Investigational 6829-55-6
27 Triamcinolone hexacetonide
28 triamcinolone acetonide
29 Triamcinolone diacetate
30 Tocotrienols
31 Tocotrienol, alpha
32 Tocopherols

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 External Natural History Controlled, Open-Label Intervention Study to Assess the Efficacy and Safety of Long-Term Treatment With Raxone® in Leber's Hereditary Optic Neuropathy (LHON) Active, not recruiting NCT02774005 Phase 4 Idebenone
2 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
3 Study of Efficacy of Befizal® 200 mg for the Treatment of Leber Hereditary Optic Neuropathy Recruiting NCT04561466 Phase 2, Phase 3 Béfizal
4 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
5 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials Active, not recruiting NCT03406104 Phase 3
6 A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
7 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
8 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
9 An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene Completed NCT02064569 Phase 1, Phase 2
10 A Prospective, Randomized, Double-Masked, Vehicle Controlled, Phase 2 Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution in Subjects With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
11 A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
12 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
13 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA Active, not recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),;injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med);injection of scAAV2-P1ND4v2 2.4 X10e10vg (High);injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)
14 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
15 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
16 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
17 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Completed NCT03295071
18 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
19 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Active, not recruiting NCT02771379 Idebenone
20 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
21 Expanded Access Program for Idebenone in Patients With Leber's Hereditary Optic Neuropathy Who Completed the LEROS Study Available NCT04381091 Idebenone 150 MG Oral Tablet
22 Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON] No longer available NCT02300753 EPI-743

Search NIH Clinical Center for Hereditary Optic Neuropathy

Genetic Tests for Hereditary Optic Neuropathy

Genetic tests related to Hereditary Optic Neuropathy:

# Genetic test Affiliating Genes
1 Hereditary Optic Neuropathy 29

Anatomical Context for Hereditary Optic Neuropathy

MalaCards organs/tissues related to Hereditary Optic Neuropathy:

40
Eye, Retina, Skeletal Muscle, Spinal Cord, Bone Marrow, Whole Blood, Cortex

Publications for Hereditary Optic Neuropathy

Articles related to Hereditary Optic Neuropathy:

(show top 50) (show all 1547)
# Title Authors PMID Year
1
Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study. 61
33566264 2021
2
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy. 61
33541401 2021
3
Late-onset Leber's hereditary optic neuropathy presenting with longitudinally extensive myelitis harbouring the m.14484T>C mutation: Extending the genotype-phenotype spectrum. 61
33360266 2021
4
Aberrant Structural Network Architecture in Leber's Hereditary Optic Neuropathy. Minimum Spanning Tree Graph Analysis Application into Diffusion 7T MRI. 61
33359657 2021
5
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset. 61
33451738 2021
6
Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man. 61
33417421 2021
7
Correction to: Leber hereditary optic neuropathy following head trauma and ocular trauma on contralateral eye: a case report. 61
33475865 2021
8
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies. 61
33437983 2021
9
Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation. 61
33493461 2021
10
Therapeutic Options in Hereditary Optic Neuropathies. 61
33159657 2021
11
From Transcriptomics to Treatment in Inherited Optic Neuropathies. 61
33499292 2021
12
Leber's Hereditary Optic Neuropathy: the roles of mitochondrial transfer RNA variants. 61
33552719 2021
13
Characteristics of Japanese patients with Leber's hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study. 61
33185792 2021
14
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. 61
33465056 2021
15
Changes in Visual Function and Correlations with Inner Retinal Structure in Acute and Chronic Leber's Hereditary Optic Neuropathy Patients after Treatment with Idebenone. 61
33406801 2021
16
Correction to: Characteristics of Japanese patients with Leber's hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study. 61
33403506 2021
17
Differences in relative capacities of oxidative phosphorylation pathways may explain sex- and tissue-specific susceptibility to vision defects due to mitochondrial dysfunction. 61
33271347 2021
18
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy. 61
33298565 2020
19
Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051G>A mtDNA Mutation. 61
33186266 2020
20
Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation. 61
32969847 2020
21
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy. 61
32991388 2020
22
Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy. 61
32358433 2020
23
Clinical Therapeutic Management of Human Mitochondrial Disorders. 61
33053453 2020
24
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation. 61
32740724 2020
25
Allotopic expression of mitochondrial genes: Basic strategy and progress. 61
33335957 2020
26
Alteration within the Hippocampal Volume in Patients with LHON Disease-7 Tesla MRI Study. 61
33374677 2020
27
Leber's hereditary optic neuropathy: course of disease in consideration of idebenone treatment and type of mutation. 61
33337510 2020
28
In silico model of mtDNA mutations effect on secondary and 3D structure of mitochondrial rRNA and tRNA in Leber's hereditary optic neuropathy. 61
32991883 2020
29
Leber hereditary optic neuropathy-new insights and old challenges. 61
33185731 2020
30
Treatment of Leber's hereditary optic neuropathy: An overview of recent developments. 61
32552047 2020
31
Discovery of Novel 2-Aniline-1,4-naphthoquinones as Potential New Drug Treatment for Leber's Hereditary Optic Neuropathy (LHON). 61
33180495 2020
32
Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells. 61
33020509 2020
33
Progressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency. 61
33004958 2020
34
Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy. 61
32506279 2020
35
Leber hereditary optic neuropathy following head trauma and ocular trauma on contralateral eye: a case report. 61
33070217 2020
36
Therapeutic Effects of Idebenone on Leber Hereditary Optic Neuropathy. 61
32111141 2020
37
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON). 61
32771908 2020
38
Are stroke-like lesions in Leber's hereditary optic neuropathy mistaken as MS-like cerebral lesions? 61
33099417 2020
39
Optical Coherence Tomography Angiography Findings in Long-Term Follow-up of Leber's Hereditary Optic Neuropathy: Report of Two Cases. 61
33342202 2020
40
Oxidative Stress Profile in Genetically Confirmed Cases of Leber's Hereditary Optic Neuropathy. 61
33095398 2020
41
Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy. 61
33101779 2020
42
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. 61
33115810 2020
43
Diagnosis and management of three optic neuropathies: a national survey. 61
32377824 2020
44
Ophthalmic manifestations of myelin oligodendrocyte glycoprotein-IgG-associated disorder other than optic neuritis: a systematic review. 61
32998905 2020
45
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. 61
32516135 2020
46
Optic neuropathy: A 15-year retrospective observational study. 61
32615530 2020
47
Treatment for mitochondrial diseases. 61
32903211 2020
48
Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus. 61
32918965 2020
49
Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features. 61
32861874 2020
50
OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy. 61
32687992 2020

Variations for Hereditary Optic Neuropathy

Expression for Hereditary Optic Neuropathy

Search GEO for disease gene expression data for Hereditary Optic Neuropathy.

Pathways for Hereditary Optic Neuropathy

GO Terms for Hereditary Optic Neuropathy

Cellular components related to Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
2 integral component of membrane GO:0016021 10.02 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
3 mitochondrion GO:0005739 9.91 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
4 mitochondrial membrane GO:0031966 9.62 MT-ND6 MT-ND4L MT-ND4 MT-ND1
5 mitochondrial inner membrane GO:0005743 9.56 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1 MT-CYB
6 mitochondrial respiratory chain complex I GO:0005747 9.55 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
7 respiratory chain GO:0070469 9.17 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1

Biological processes related to Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.7 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1
2 response to hypoxia GO:0001666 9.63 MT-ND5 MT-ND4 MT-CYB
3 aerobic respiration GO:0009060 9.54 MT-ND4 MT-ND1 MT-CO3
4 response to hydrogen peroxide GO:0042542 9.51 MT-ND6 MT-ND5
5 ATP synthesis coupled electron transport GO:0042773 9.5 MT-ND5 MT-ND4L MT-ND4
6 response to organonitrogen compound GO:0010243 9.49 MT-ND5 MT-CYB
7 response to nicotine GO:0035094 9.48 MT-ND6 MT-ND4
8 respiratory electron transport chain GO:0022904 9.43 MT-CYB MT-CO3
9 electron transport coupled proton transport GO:0015990 9.43 MT-ND5 MT-ND4 MT-CYB
10 response to hyperoxia GO:0055093 9.4 MT-CYB MT-ATP6
11 mitochondrial respiratory chain complex I assembly GO:0032981 9.35 MT-ND6 MT-ND5 MT-ND4 MT-ND2 MT-ND1
12 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1

Molecular functions related to Hereditary Optic Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.16 MT-CYB MT-CO3
2 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 MT-ND6 MT-ND5 MT-ND4L MT-ND4 MT-ND2 MT-ND1

Sources for Hereditary Optic Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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