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
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- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
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Phenome-Disease
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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 ..Lacrimal Apparatus Diseases (D007766)
Child Nodes:
........Alacrima (C562827)
........Alacrima, Congenital (C566307)
........Aplasia of Lacrimal and Salivary Glands (C562407)
........Dacryocystitis (D003607) 2
........Dry Eye Syndromes (D015352) 5
........Lacrimal Duct Obstruction (D007767) 3
........Lacrimal Puncta, Absence of (C566703)
........Lacrimoauriculodentodigital syndrome (C538132)
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:	6165
Name:	Lacrimal Apparatus Diseases
Definition:	Diseases of the lacrimal apparatus.
Alternative IDs:
ParentIDs:	MESH:D005128
TreeNumbers:	C11.496
Synonyms:	Apparatus Disease, Lacrimal \|Apparatus Diseases, Lacrimal \|Disease, Lacrimal Apparatus \|Diseases, Lacrimal Apparatus \|Epiphora \|Lacrimal Apparatus Disease
Slim Mappings:	Eye disease
Reference:	MedGen: D007766 MeSH: D007766 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants