Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Eye Diseases (D005128)
..Starting node ..Orbital Diseases (D009916)
Child Nodes:
........Enophthalmos (D015841)
........Exophthalmos (D005094) 7
........Orbital Cellulitis (D054517)
........Orbital Myositis (D055622)
........Orbital Neoplasms (D009918) 2
........Orbital Pseudotumor (D016727)
........Pott Puffy Tumor (D059369)
........Retrobulbar Hemorrhage (D019315)
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:	8309
Name:	Orbital Diseases
Definition:	Diseases of the bony orbit and contents except the eyeball.
Alternative IDs:
ParentIDs:	MESH:D005128
TreeNumbers:	C11.675
Synonyms:	Disease, Orbital \|Diseases, Orbital \|Orbital Disease
Slim Mappings:	Eye disease
Reference:	MedGen: D009916 MeSH: D009916 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants