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CORD2
MCID: CNR004
MIFTS: 72

Cone-Rod Dystrophy 2 (CORD2)

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Cone-Rod Dystrophy 2

About this section

MalaCards integrated aliases for Cone-Rod Dystrophy 2:

Name: Cone-Rod Dystrophy 2 57 12 53 74 29 6 15 38 72
Cone-Rod Dystrophy 57 12 75 53 25 29 55 6 15
Cord2 57 12 53 74
Cone-Rod Retinal Dystrophy 2 12 53 74
Cone-Rod Retinal Dystrophy 57 12 25
Rcrd2 57 12 53
Crd2 12 53 74
Cone-Rod Retinal Dystrophy-2 57 13
Retinal Cone-Rod Dystrophy 2 12 53
Retinal Cone-Rod Dystrophy 57 25
Cone Rod Dystrophy 59 6
Cord 57 25
Crd 57 25
Cone-Rod Retinal Dystrophy; Crd; Crd2 57
Retinal Cone-Rod Dystrophy; Rcrd2 57
Progressive Cone-Rod Dystrophy 72
Dystrophy, Cone-Rod, Type 2 40
Tapetoretinal Degeneration 25
Cone-Rod Dystrophy; Cord 57
Retinitis Pigmentosa 2 72
Cone-Rod Degeneration 25
Retinitis Pigmentosa 72
Dystrophy, Cone-Rod 40

Characteristics:

Orphanet epidemiological data:

59
cone rod dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant (19q13.1-q13.2)


HPO:

32
cone-rod dystrophy 2:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050572 DOID:0111005
MeSH 44 D058499
ICD10 33 H35.5
ICD10 via Orphanet 34 H35.5
Orphanet 59 ORPHA1872
UMLS 72 C0035334 C0339530 C2681923 more
Sources

Summaries for Cone-Rod Dystrophy 2

About this section
Genetics Home Reference : 25 Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus). There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

MalaCards based summary : Cone-Rod Dystrophy 2, also known as cone-rod dystrophy, is related to cone-rod dystrophy 9 and cone-rod dystrophy 8. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Acetazolamide and Cyclobenzaprine have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are abnormality of retinal pigmentation and photophobia

Disease Ontology : 12 A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

NIH Rare Diseases : 53 Cone-rod dystrophy (CRD) is a group of inherited eye disorders that affect the light sensitive cells of the retina called the cones and rods. People with this condition experience vision loss over time as the cones and rods deteriorate. Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) and abnormal sensitivity to light (photophobia). These signs are usually followed by blind spots in the central field of vision (scotomas), loss of color perception, and loss of peripheral vision. Most individuals with this condition are legally blind by mid adulthood. There are over 30 types of CRD caused by mutations in several different genes that can be inherited in many different ways including autosomal recessive, autosomal dominant, X-linked or mitochondrial patterns. CRDs are usually non-syndromic, but they may also be part of several syndromes. There is no cure for CRD; however, there may be ways to slow the disease process. Depending on the underlying cause of CRD and other associated symptoms, research may be ongoing to try to identify an effective treatment.

OMIM : 57 Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). (120970)

UniProtKB/Swiss-Prot : 74 Cone-rod dystrophy 2: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Wikipedia : 75 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Sources

Related Diseases for Cone-Rod Dystrophy 2

About this section

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3213)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 9 36.2 RPGRIP1 GUCY2D CRX ABCA4
2 cone-rod dystrophy 8 36.2 RPGRIP1 GUCY2D CRX ABCA4
3 cone-rod dystrophy 6 36.1 RPGR GUCY2D GUCA1A
4 cone-rod dystrophy, x-linked, 3 36.1 RPGR CABP4
5 cone-rod dystrophy 7 36.0 RIMS1 ABCA4
6 cone-rod dystrophy 12 35.7 PROM1 CERKL
7 bietti crystalline corneoretinal dystrophy 34.6 RPGRIP1 PRPH2 CEP290
8 leber congenital amaurosis 1 34.1 GUCY2D GUCA1A
9 laurence-moon syndrome 33.4 RPGRIP1 RPGR
10 retinitis pigmentosa 33.2 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
11 retinitis 33.1 RPGRIP1 RPGR RHO PRPH2 FAM161A CERKL
12 fundus dystrophy 33.1 USH2A RPGRIP1 RPGR RIMS1 RHO PRPH2
13 retinal degeneration 33.0 RPGRIP1 RPGR RHO PRPH2 NR2E3 GUCY2D
14 retinal disease 33.0 USH2A RPGRIP1 RPGR RHO PRPH2 GUCY2D
15 yemenite deaf-blind hypopigmentation syndrome 32.8 USH2A RPGR RHO GUCY2D CEP290 ABCA4
16 leber congenital amaurosis 32.8 USH2A RPGRIP1 RPGR RIMS1 RHO PRPH2
17 stargardt disease 32.8 RPGR RHO PRPH2 PROM1 ABCA4
18 cone dystrophy 32.8 RPGR RHO GUCA1A
19 stargardt disease 1 32.5 RHO CRX ABCA4
20 pathologic nystagmus 32.5 RHO CEP290 CABP4
21 stargardt macular degeneration 32.4 RIMS1 RHO PRPH2 ABCA4
22 usher syndrome 32.1 USH2A RPGR PROM1
23 prolonged electroretinal response suppression 31.9 PRPH2 PROM1 GUCY2D CRX ABCA4
24 hereditary retinal dystrophy 31.9 RHO GUCY2D CEP290
25 retinitis pigmentosa 3 31.8 RPGRIP1 RPGR ABCA4
26 peripheral retinal degeneration 31.6 RPGR PRPH2
27 retinitis pigmentosa 19 31.5 RHO ABCA4
28 congenital stationary night blindness 31.4 RHO CABP4 ABCA4
29 orofaciodigital syndrome i 30.5 RPGR CEP290
30 spondylometaphyseal dysplasia with cone-rod dystrophy 13.1
31 cone-rod dystrophy, x-linked, 1 13.1
32 cone-rod dystrophy and hearing loss 1 13.1
33 cone-rod dystrophy 3 13.1
34 cone-rod dystrophy 5 13.0
35 cone-rod dystrophy 18 13.0
36 cone-rod dystrophy 20 13.0
37 cone-rod dystrophy 19 13.0
38 cone-rod dystrophy 13 13.0
39 cone-rod dystrophy 15 13.0
40 cone-rod dystrophy 10 13.0
41 cone-rod dystrophy 11 13.0
42 cone-rod dystrophy and hearing loss 2 13.0
43 cone-rod dystrophy 1 13.0
44 cone-rod dystrophy 17 13.0
45 cone-rod dystrophy 21 13.0
46 spinal cord injury 12.8
47 spinal cord disease 12.7
48 jalili syndrome 12.6
49 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.6
50 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration 12.6

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 2:



Diseases related to Cone-Rod Dystrophy 2
Sources

Symptoms & Phenotypes for Cone-Rod Dystrophy 2

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Human phenotypes related to Cone-Rod Dystrophy 2:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
2 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
3 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
4 color vision defect 32 very rare (1%) HP:0000551
5 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
6 reduced visual acuity 32 very rare (1%) HP:0007663
7 constriction of peripheral visual field 32 very rare (1%) HP:0001133
8 metamorphopsia 32 very rare (1%) HP:0012508
9 macular hyperpigmentation 32 very rare (1%) HP:0011509
10 bone spicule pigmentation of the retina 32 very rare (1%) HP:0007737
11 retinal pigment epithelial atrophy 32 very rare (1%) HP:0007722
12 blindness 32 HP:0000618
13 abnormal electroretinogram 32 HP:0000512
14 abnormality of color vision 59 Frequent (79-30%)
15 central scotoma 32 HP:0000603
16 chorioretinal atrophy 32 HP:0000533
17 cone/cone-rod dystrophy 32 HP:0000548
18 peripheral visual field loss 32 HP:0007994

Symptoms via clinical synopsis from OMIM:

57
Eyes:
chorioretinal atrophy
peripheral visual field loss
cone-rod retinal dystrophy
initial color vision and visual acuity loss
night blindness
more

Clinical features from OMIM:

120970

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 C8orf37 CABP4 CEP290 CRX FAM161A
2 cardiovascular system MP:0005385 9.96 ABCA4 CABP4 CEP290 CRX FAM161A PROM1
3 vision/eye MP:0005391 9.58 ABCA4 C8orf37 CABP4 CEP290 CERKL CRX
4 pigmentation MP:0001186 9.56 ABCA4 CEP290 CRX PROM1 PRPH2 RHO
Sources

Drugs & Therapeutics for Cone-Rod Dystrophy 2

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Drugs for Cone-Rod Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1038)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Cyclobenzaprine Approved Phase 4 303-53-7 2895
3
Memantine Approved, Investigational Phase 4 19982-08-2 4054
4
Dezocine Approved, Investigational Phase 4 53648-55-8 3033053 40841
5
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
6
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
7
4-Aminopyridine Approved Phase 4 504-24-5 1727
8
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
9
Amitriptyline Approved Phase 4 50-48-6 2160
10
Oxcarbazepine Approved Phase 4 28721-07-5 34312
11
Perphenazine Approved Phase 4 58-39-9 4748
12
Sultamicillin Approved, Investigational Phase 4 76497-13-7
13
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
14
Sulbactam Approved Phase 4 68373-14-8
15
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
16
Ceftizoxime Approved, Investigational Phase 4 68401-81-0 6533629
17
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
18
Nicotine Approved Phase 4 54-11-5 942 89594
19
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
20
Ondansetron Approved Phase 4 99614-02-5 4595
21
Chlorzoxazone Approved Phase 4 95-25-0 2733
22
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
23
Palonosetron Approved, Investigational Phase 4 119904-90-4, 135729-61-2, 135729-56-5 148211
24 Orange Approved Phase 4
25
Nalbuphine Approved Phase 4 20594-83-6 5360630 5311304
26
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
27
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
28
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
29
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
30
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
31
Parecoxib Approved Phase 4 198470-84-7
32
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
33
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
34
Ramipril Approved Phase 4 87333-19-5 5362129
35
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
36
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
37
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
38
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
39
Tapentadol Approved Phase 4 175591-23-8 9838022
40
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
41
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
42
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
43
Acetaminophen Approved Phase 4 103-90-2 1983
44
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
45
Carbetocin Approved, Investigational Phase 4 37025-55-1 16681432 71715
46
Prilocaine Approved Phase 4 721-50-6 4906
47
Cycloserine Approved Phase 4 68-41-7 6234 401
48
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
49
Droxidopa Approved, Investigational Phase 4 23651-95-8 443940
50
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757

Interventional clinical trials:

(show top 50) (show all 4576)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
2 Assessment of Pregabalin Efficacy for the Treatment and Prevention of At-level Non-evoked and Evoked Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
3 Pilot Study About Viability and Efficacy of Intrabone Administration of Umbilical Cord Blood for Allogeneic Stem Cell Transplantation Unknown status NCT00838019 Phase 4
4 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+ATG
5 Avanafil Versus Sildenafil in Spinal Cord Injury Erectile Dysfunction: Non- Inferiority, Randomized, Crossover, Open Clinical Trial Unknown status NCT03169582 Phase 4 Avanafil;Sildenafil
6 Analgesic Efficacy of High Frequency Spinal Cord Stimulation: a Placebo-controlled Study Unknown status NCT01400282 Phase 4
7 Changes of Gas Values in Cord Blood Versus Time and Temperature Unknown status NCT02785367 Phase 4
8 An Open, Longitudinal, Prospective, Non-randomized, Self-Controlled Feasibility Study to Investigate the Effect of the ReWalkâ„¢ Device on Mobility Outcomes in Patients With Chronic Spinal Cord Injury. Unknown status NCT01943669 Phase 4
9 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
10 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
11 Multi-Centre, Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Vardenafil in Men With Erectile Dysfunction Caused by Spinal Cord Injury Unknown status NCT00725790 Phase 4 Vardenafil;Placebo
12 Investigator Initiated Trial- Management of Chronic Pain in Military Patients With Injuries Sustained During Active Duty. Comparison of Spinal Cord Stimulation and Comprehensive Medical Management Unknown status NCT01616342 Phase 4
13 Phase 4 Study of the Effect of Botulinum-A Toxin Injected in Neurogenic Overactive Bladders of Children Born With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
14 Evaluation of Suprapubic Noble Metal Alloy BIP Foley Catheter in the Prevention of Catheter-associated Urinary Tract Infections in Spinal Cord Injured Patients Unknown status NCT02808000 Phase 4
15 Anesthesia Induction With Propofol or Sevoflurane in Patients Undergoing Fiberoptic Intubation for Cervical Myelopathy: Effects on Heamodynamics Unknown status NCT01052337 Phase 4 anaesthetics: sevofluorane
16 The Use of Bronchial Blocker Versus Double Lumen Tube for One-lung Ventilation During Thoracoscope Assisted Mitral Valve Replacement Unknown status NCT02729610 Phase 4
17 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4 Mitoxantrone
18 Treatment Plan for Hematologic Malignancies Using Intravenous Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide to Examine Results, Success and Side Effects of Treatment With Chemotherapy Only, as a Preparative Therapy for Patients With Cord Blood Transplants Unknown status NCT01339988 Phase 4 Busulfan/Cyclophosphamide
19 The Effect of Intravenous Oxytocin Infusion Using Different Diluents on Neonatal Bilirubin & Sodium Levels .A Prospective Randomized Controlled Trial. Unknown status NCT02602301 Phase 4 Oxytocin
20 A Longitudinal Clinical Feasibility Study to Evaluate the Psychological and Functional Effects of Using the Tobiiâ„¢ Eyegaze System by Inpatients With Tetraplegia Unknown status NCT01943656 Phase 4
21 Randomized Study on SCS for the Treatment of Refractory Angina Pectoris Unknown status NCT00121654 Phase 4
22 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
23 Effect of Botox Treatment for Neurogenic Detrusor Overactivity on the Prevention of Autonomic Dysreflexia Following Spinal Cord Injury Unknown status NCT02298660 Phase 4 BOTOX
24 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
25 Functional Electrical Stimulation (FES)-Assisted Walking: Enhancement of Voluntary Walking Function Among Persons With Severe Hemiplegia Post-Stroke Unknown status NCT00552916 Phase 4
26 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
27 Comparison of Two Kinds of Postoperative Analgesia After Amputation:a Randomized Clinical Trial Unknown status NCT02114463 Phase 4 ropivacaine;flurbiprofen
28 Retroclavicular Approach vs Infraclavicular Approach for Brachial Plexus Block in Obese Unknown status NCT02990702 Phase 4 Bupivacaine
29 A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair Unknown status NCT01889498 Phase 4 Acetazolamide
30 An Eight Week, Double-Blind Efficacy Study of Cyclobenzaprine ER (Amrix TM) Augmentation to Alleviate Fibromyalgia Fatigue and Muscle Pain Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
31 Chronic Significant Pain and Functional Outcome After Laparoscopic Versus Open Groin Hernia Mesh Repair: Design of a Randomized Controlled Clinical Trial Unknown status NCT00625534 Phase 4
32 A Comparison of Myocardial Protection Using Preconditioning With Sevoflurane Against High Thoracic Epidural Analgesia for CABG Surgery Unknown status NCT00244283 Phase 4 Sevoflurane
33 Treatment for Alcohol Dependence With Gabapentin: A Double Blind Placebo Controlled Randomized Clinical Trial Unknown status NCT02771925 Phase 4 Gabapentin 2g/day divided in two doses for 24 weeks;Placebo 2g/day divided in two doses for 24 weeks
34 Multicentre Randomised Controled Trial Comparing the Effect of a New Self-gripping Lightweight Polyester Mesh and a Normal Sutured Lightweight Polyester Mesh on the Incidence of Chronic Inguinodynia in Lichtenstein Hernioplasty. Unknown status NCT01830452 Phase 4
35 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
36 An Integrated Approach With Vardenafil Orodispersible and Cognitive-behavioral Sex Therapy for the Treatment of Erectile Dysfunction (STEDOV) Completed NCT02450188 Phase 4 Vardenafil
37 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
38 The Effect of Botulinum Toxin A in Post Spinal Cord Injury Neuropathic Pain Completed NCT01579500 Phase 4 Botulinum toxin type A;normal saline
39 Treatment of Fecal Incontinence and Constipation in Patients With Spinal Cord Injury - a Prospective, Randomized, Controlled, Multicentre Trial of Transanal Irrigation Vs. Conservative Bowel Management Completed NCT00286520 Phase 4
40 Comparative Study of the Efficacy and Safety of Muscarinic M3 Receptors Antagonists in the Treatment of Neurogenic Detrusor Overactivity Completed NCT00800462 Phase 4 Oxybutynin Cl;Trospium Cl;Darifenacin Hydrogen Bromide (HBr)
41 A Six Month Randomized Open-Label Trial of Pressure Ulcer Healing With Microcyn® Skin and Wound Care With Preservatives Versus Sterile Saline in Adult Spinal Cord Injury Subjects Completed NCT02001558 Phase 4 Microcyn
42 Double-blind, Cross-over, Placebo Controlled Pilot Study to Characterize the Profile of Those Patients With Spinal Cord Injury Diagnosed by Electrophysiological, Urodynamic and Clinical (ASIA Group) Assessment Who May Respond to Vardenafil Treatment. (LEMDE) Completed NCT00667966 Phase 4 Vardenafil (Levitra, BAY 38-9456), 10 mg;Placebo;Vardenafil (Levitra, BAY 38-9456), 20 mg
43 A Placebo-Controlled, Randomized, Two-Way Cross-Over, Double-Blind, Flexible Dose, Multicenter Study to Evaluate the Efficacy and Safety of Viagra in Male Patients With Traumatic Spinal Cord Injury and Erectile Dysfunction Completed NCT00654082 Phase 4 sildenafil;placebo
44 Melatonin Replacement for Treatment of Sleep Disruption Completed NCT00507546 Phase 4 Ramelteon;Placebo
45 Symptom-Based Treatment for Neuropathic Pain in Spinal Cord Injured Patients, Randomized Clinical Trial Completed NCT02180880 Phase 4 Pregabalin and Oxcarbazepine
46 Management of Chronic Pain in Rehabilitation Project I - Management of Chronic Pain in Persons With Spinal Cord Injury Completed NCT00006428 Phase 4 Amitriptyline
47 Bowel Care and Cardiovascular Function After Spinal Cord Injury Completed NCT01567605 Phase 4 Lidocaine lubricant
48 Effects of Levetiracetam on Chronic Neuropathic Pain Following Spinal Cord Injury: a Randomized, Double-blind, Placebo-controlled, Cross-over, Multi-center Study Completed NCT00252954 Phase 4 Levetiracetam
49 Buccal Misoprostol During Cesarean Section for Preventing Postpartum Hemorrhage in Women With Risk Factors for Uterine Atony Completed NCT01733329 Phase 4 Misoprostol;Folic Acid
50 Effectiveness of the Precision Spinal Cord Stimulation System in Patients With Failed Back Surgery Syndrome and Axial Low Back Pain Completed NCT00205868 Phase 4

Search NIH Clinical Center for Cone-Rod Dystrophy 2

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cone-Rod Dystrophy 2 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cone-Rod Dystrophy 2:
Bone marrow-derived stem cells for retinal diseases
Embryonic/Adult Cultured Cells Related to Cone-Rod Dystrophy 2:
Bone marrow-derived mononuclear cells (family) PMIDs: 21225138 23000646 19347139 23049424
Sources

Genetic Tests for Cone-Rod Dystrophy 2

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Genetic tests related to Cone-Rod Dystrophy 2:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 29 PRPH2
2 Cone-Rod Dystrophy 2 29 CRX
Sources

Anatomical Context for Cone-Rod Dystrophy 2

About this section

MalaCards organs/tissues related to Cone-Rod Dystrophy 2:

41
Spinal Cord, Bone, Brain, Bone Marrow, Heart, Lung, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cone-Rod Dystrophy 2:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Mature L Cone Cells Affected by disease
2 Eye Outer Nuclear Layer Mature M Cone Cells Affected by disease
3 Eye Outer Nuclear Layer Mature M-S Cone Cells Affected by disease
4 Eye Outer Nuclear Layer Mature Rod Cells Affected by disease
5 Eye Outer Nuclear Layer Mature S Cone Cells Affected by disease
Sources

Publications for Cone-Rod Dystrophy 2

About this section

Articles related to Cone-Rod Dystrophy 2:

(show top 50) (show all 625)
# Title Authors PMID Year
1
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. 9 38 8 71
9390563 1997
2
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. 38 8 71
15531334 2004
3
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. 9 38 71
17320181 2007
4
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 9 38 71
15790869 2005
5
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 9 38 71
12920076 2003
6
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 9 38 71
12796258 2003
7
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. 9 38 71
11857109 2002
8
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 9 38 71
11146732 2001
9
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 9 38 71
10958761 2000
10
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 9 38 71
10951519 2000
11
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 9 38 71
9792858 1998
12
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. 9 38 71
9634506 1998
13
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 9 38 71
9618177 1998
14
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 9 38 71
9425234 1998
15
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. 38 8
28460050 2017
16
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 38 71
25356532 2015
17
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. 38 71
26702251 2015
18
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 38 71
25091951 2014
19
Novel recessive cone-rod dystrophy caused by POC1B mutation. 38 71
24945461 2014
20
Mutation of POC1B in a severe syndromic retinal ciliopathy. 38 71
25044745 2014
21
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 38 71
25018096 2014
22
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 38 71
23746546 2013
23
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 38 71
24124559 2013
24
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 38 71
23776498 2013
25
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 38 71
20517349 2010
26
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. 38 71
19409519 2009
27
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 38 71
18285826 2008
28
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. 38 71
17325136 2007
29
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 38 71
16505158 2006
30
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 38 71
16199541 2006
31
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. 38 71
15953638 2005
32
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. 38 71
15914600 2005
33
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 38 71
12659814 2003
34
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 38 71
12552567 2003
35
The ABCA4 gene in autosomal recessive cone-rod dystrophies. 9 71
12515255 2002
36
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 38 71
11919200 2002
37
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. 38 71
11581183 2001
38
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy. 38 71
11453854 2001
39
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 38 71
11006213 2000
40
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? 38 71
10676808 2000
41
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. 9 71
10647719 2000
42
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. 38 8
9610810 1998
43
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 38 71
9466990 1998
44
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 38 71
9427255 1997
45
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. 38 71
9097965 1997
46
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype. 38 8
7864751 1995
47
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. 38 8
8162077 1994
48
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. 38 8
6940444 1981
49
Dominant cone-rod dystrophy. 38 8
1201699 1975
50
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. 71
28125083 2017
Sources

Variations for Cone-Rod Dystrophy 2

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ClinVar genetic disease variations for Cone-Rod Dystrophy 2:

6 (show all 40)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RHO NM_000539.3(RHO): c.491C> T (p.Ala164Val) single nucleotide variant Pathogenic rs104893793 3:129249848-129249848 3:129531005-129531005
2 NR2E3 NM_014249.4(NR2E3): c.722_723TC[1] (p.Ser242fs) short repeat Pathogenic 15:72104828-72104829 15:71812488-71812489
3 PANK2 NM_153638.3(PANK2): c.1317del (p.Arg440fs) deletion Pathogenic 20:3893186-3893186 20:3912539-3912539
4 PANK2 NM_153638.2(PANK2): c.(?_-6)_(1662+1_1663-1)del deletion Pathogenic 20:3869742-3903890 20:3889095-3923243
5 FAM161A NM_001201543.2(FAM161A): c.1309A> T (p.Arg437Ter) single nucleotide variant Pathogenic rs200691042 2:62066830-62066830 2:61839695-61839695
6 CRX NM_000554.6(CRX): c.239A> C (p.Glu80Ala) single nucleotide variant Pathogenic rs104894671 19:48339638-48339638 19:47836381-47836381
7 CRX NM_000554.6(CRX): c.502del (p.Glu168fs) deletion Pathogenic 19:48342826-48342826 19:47839569-47839569
8 CRX NM_000554.6(CRX): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs104894672 19:48339520-48339520 19:47836263-47836263
9 CERKL NM_001030311.2(CERKL): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs121909398 2:182423344-182423344 2:181558617-181558617
10 CRX CRX, 3-BP DEL/2-BP INS, NT816 indel Pathogenic
11 USH2A NM_206933.3(USH2A): c.14911C> T (p.Arg4971Ter) single nucleotide variant Pathogenic rs397517994 1:215813957-215813957 1:215640615-215640615
12 PROM1 NM_001145847.2(PROM1): c.2050-521A> G single nucleotide variant Pathogenic rs796051882 4:15989860-15989860 4:15988237-15988237
13 ABCA4 NM_000350.3(ABCA4): c.2894A> G (p.Asn965Ser) single nucleotide variant Pathogenic rs201471607 1:94512499-94512499 1:94046943-94046943
14 CEP290 NM_025114.3(CEP290): c.2722C> T (p.Arg908Ter) single nucleotide variant Pathogenic rs886042153 12:88500547-88500547 12:88106770-88106770
15 CRX NM_000554.6(CRX): c.615del (p.Ser206fs) deletion Pathogenic rs281865516 19:48342939-48342939 19:47839682-47839682
16 CABP4 NM_145200.4(CABP4): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs150115958 11:67225148-67225148 11:67457677-67457677
17 NR2E3 NM_014249.4(NR2E3): c.119-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs2723341 15:72103821-72103821 15:71811481-71811481
18 USH2A NM_206933.3(USH2A): c.2299del (p.Glu767fs) deletion Pathogenic/Likely pathogenic rs80338903 1:216420437-216420437 1:216247095-216247095
19 CRX NM_000554.6(CRX): c.122G> A (p.Arg41Gln) single nucleotide variant Likely pathogenic rs61748436 19:48339521-48339521 19:47836264-47836264
20 CNGA1 NM_001142564.1(CNGA1): c.1166C> T (p.Ser389Phe) single nucleotide variant Likely pathogenic rs62625014 4:47939552-47939552 4:47937535-47937535
21 PRPH2 NM_000322.5(PRPH2): c.584G> A (p.Arg195Gln) single nucleotide variant Likely pathogenic 6:42672347-42672347 6:42704609-42704609
22 ABCA4 NM_000350.3(ABCA4): c.5528_5533del (p.Arg1843_Gly1844del) deletion Likely pathogenic 1:94476869-94476874 1:94011318-94011323
23 CERKL NM_001030311.2(CERKL): c.772G> A (p.Gly258Arg) single nucleotide variant Likely pathogenic 2:182423419-182423419 2:181558692-181558692
24 ABCA4 NM_000350.3(ABCA4): c.2701A> G (p.Thr901Ala) single nucleotide variant Likely pathogenic rs61754030 1:94514466-94514466 1:94048910-94048910
25 CRX NM_000554.6(CRX): c.127C> T (p.Arg43Cys) single nucleotide variant Likely pathogenic 19:48339526-48339526 19:47836269-47836269
26 RPGR NM_000328.3(RPGR): c.155-1G> A single nucleotide variant Likely pathogenic X:38182199-38182199 X:38322946-38322946
27 AIPL1 NM_014336.5(AIPL1): c.294del (p.Ile99fs) deletion Likely pathogenic 17:6331809-6331809 17:6428492-6428492
28 ABCA4 NM_000350.3(ABCA4): c.4685T> C (p.Ile1562Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1762111 1:94487490-94487490 1:94021934-94021934
29 CABP4 NM_145200.4(CABP4): c.773A> T (p.Asn258Ile) single nucleotide variant Conflicting interpretations of pathogenicity 11:67225963-67225963 11:67458492-67458492
30 USH2A NM_206933.3(USH2A): c.3407G> A (p.Ser1136Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs483353055 1:216373373-216373373 1:216200031-216200031
31 ABCA4 NM_000350.3(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 1:94517254-94517254 1:94051698-94051698
32 CNGB3 NM_019098.4(CNGB3): c.1148del (p.Thr383fs) deletion Conflicting interpretations of pathogenicity rs397515360 8:87656009-87656009 8:86643781-86643781
33 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Uncertain significance rs267607166 17:26879407-26879407 17:28552389-28552389
34 USH2A NM_206933.3(USH2A): c.8842C> T (p.Pro2948Ser) single nucleotide variant Uncertain significance 1:216040352-216040352 1:215867010-215867010
35 RPE65 NM_000329.3(RPE65): c.433G> C (p.Ala145Pro) single nucleotide variant Uncertain significance 1:68910276-68910276 1:68444593-68444593
36 ACBD5 NM_145698.5(ACBD5): c.1446del (p.Thr483fs) deletion Uncertain significance 10:27494136-27494136 10:27205207-27205207
37 ACBD5 NM_145698.5(ACBD5): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance 10:27512350-27512350 10:27223421-27223421
38 USH2A NM_206933.3(USH2A): c.10613G> A (p.Arg3538Gln) single nucleotide variant Uncertain significance rs774844491 1:215955511-215955511 1:215782169-215782169
39 CACNA1F NM_005183.4(CACNA1F): c.2237A> C (p.Asn746Thr) single nucleotide variant Likely benign rs141159097 X:49079179-49079179 X:49222720-49222720
40 CRX NM_000554.6(CRX): c.472G> A (p.Ala158Thr) single nucleotide variant Benign/Likely benign rs61748445 19:48342796-48342796 19:47839539-47839539

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 2:

74
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Trp VAR_003750 rs104894672
2 CRX p.Glu80Ala VAR_003751 rs104894671
3 CRX p.Val242Met VAR_007949 rs61748459

Copy number variations for Cone-Rod Dystrophy 2 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 34944 1 5845456 5975118 Deletion NPHP4 Cone-rod dystrophy
2 82825 14 15600000 23600000 Copy number RPGRIP1 Cone-rod dystrophy
3 83474 14 20825975 20889300 Insertion RPGRIP1 Cone-rod dystrophy
4 239386 8 38973661 39081936 Deletion ADAM9 Cone-rod dystrophy
Sources

Expression for Cone-Rod Dystrophy 2

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Search GEO for disease gene expression data for Cone-Rod Dystrophy 2.
Sources

Pathways for Cone-Rod Dystrophy 2

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Pathways related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.79 RHO GUCY2D GUCA1A ABCA4
2
Phototransduction 37
Show member pathways
 11.63 RHO GUCY2D GUCA1A
3
Visual Cycle in Retinal Rods 64
11.23 RHO GUCY2D GUCA1A CABP4
4
Development_Thrombopoetin signaling via JAK-STAT pathway 22
10.29 RHO GUCY2D GUCA1A CABP4
Sources

GO Terms for Cone-Rod Dystrophy 2

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Cellular components related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 USH2A RPGRIP1 RPGR RHO RAB28 PROM1
2 cilium GO:0005929 9.8 RPGRIP1 RPGR PROM1 FAM161A CEP290
3 ciliary basal body GO:0036064 9.72 USH2A RPGR RAB28 FAM161A CEP290
4 photoreceptor connecting cilium GO:0032391 9.56 USH2A RPGRIP1 FAM161A CEP290
5 photoreceptor disc membrane GO:0097381 9.46 RHO GUCY2D GUCA1A ABCA4
6 photoreceptor outer segment membrane GO:0042622 9.43 RHO PROM1
7 photoreceptor outer segment GO:0001750 9.43 RPGR RHO PRPH2 PROM1 CERKL ABCA4
8 photoreceptor inner segment GO:0001917 9.02 USH2A RHO FAM161A CERKL C8orf37

Biological processes related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.73 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
2 retina development in camera-type eye GO:0060041 9.62 RPGRIP1 RHO PRPH2 NR2E3
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 RHO GUCY2D GUCA1A
4 photoreceptor cell maintenance GO:0045494 9.56 USH2A RHO PROM1 ABCA4
5 eye photoreceptor cell development GO:0042462 9.54 RPGRIP1 NR2E3 CEP290
6 sensory perception of light stimulus GO:0050953 9.48 USH2A RHO
7 visual perception GO:0007601 9.47 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
8 phototransduction, visible light GO:0007603 9.46 RHO ABCA4
9 phototransduction GO:0007602 9.46 UNC119 RHO NR2E3 CABP4
10 photoreceptor cell morphogenesis GO:0008594 9.43 CABP4 C8orf37
Sources

Sources for Cone-Rod Dystrophy 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45