Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
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- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
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- HBCR Exome (Retired)
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Eye Diseases (D005128)
..Starting node ..Refractive Errors (D012030)
Child Nodes:
........Aniseikonia (D000839)
........Anisometropia (D015858)
........Astigmatism (D001251)
........Corneal Wavefront Aberration (D057108)
........Hyperopia (D006956) 5
........Myopia (D009216) 45
........Presbyopia (D011305)
Sister Nodes:
..Asthenopia (D001248)
..Cogan Syndrome (D055952) 2
..Conjunctival Diseases (D003229) 29
..Corneal Diseases (D003316) 120
..Encephalocraniocutaneous lipomatosis (C535736)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..Eye Abnormalities (D005124) 208
..Eye Diseases, Hereditary (D015785) 373
..Eye Hemorrhage (D005130) 6
..Eye Infections (D015817) 25
..Eye Injuries (D005131) 7
..Eye Manifestations (D005132) 9
..Eye Neoplasms (D005134) 20
..Eyelid Diseases (D005141) 64
..Hernandez Fragoso syndrome (C536062)
..Lacrimal Apparatus Diseases (D007766) 18
..Lens Diseases (D007905) 166
..Mollica Pavone Antener syndrome (C535809)
..MORM syndrome (C536984)
..Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance (C563517)
..Ocular Hypertension (D009798) 52
..Ocular Hypotension (D015814)
..Ocular Motility Disorders (D015835) 109
..Optic Nerve Diseases (D009901) 69
..Orbital Diseases (D009916) 17
..Pupil Disorders (D011681) 20
..Refractive Errors (D012030) 57
..Retinal Diseases (D012164) 287
..Scleral Diseases (D015422) 3
..Uveal Diseases (D014603) 59
..Vision Disorders (D014786) 84
..Vitreoretinopathy, Proliferative (D018630) 5
..Vitreous Detachment (D020255) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9632
Name:	Refractive Errors
Definition:	Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
Alternative IDs:
ParentIDs:	MESH:D005128
TreeNumbers:	C11.744
Synonyms:	Ametropia \|Ametropias \|Disorder, Refractive \|Disorders, Refractive \|Error, Refractive \|Errors, Refractive \|Refractive Disorder \|Refractive Disorders \|Refractive Error
Slim Mappings:	Eye disease
Reference:	MedGen: D012030 MeSH: D012030 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants