Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Central Nervous System Diseases (D002493)
Parent Node: Cranial Nerve Diseases (D003389)
Parent Node: Eye Diseases (D005128)
..Starting node ..Ocular Motility Disorders (D015835)
Child Nodes:
........Athabaskan brainstem dysgenesis (C535397)
........Diffuse Lewy Body Disease with Gaze Palsy (C565077)
........Duane Retraction Syndrome (D004370) 2
........Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
........Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
........Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
........Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
........Joubert syndrome 3 (C536295)
........Joubert syndrome 5 (C537688)
........Joubert syndrome 6 (C537689)
........Joubert Syndrome 7 (C566916)
........Levator-Medial Rectus Synkinesis (C563625)
........Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
........Miller Fisher Syndrome (D019846)
........Nystagmus, Pathologic (D009759) 25
........Oculomotor Nerve Diseases (D015840) 4
........Ophthalmoplegia (D009886) 41
........Ophthalmoplegia, Chronic Progressive External (D017246) 7
........Opsoclonus-Myoclonus Syndrome (D053578) 1
........Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
........Setting-Sun Phenomenon, Familial Benign (C563470)
........Strabismus (D013285) 13
........Tolosa-Hunt Syndrome (D020333) 1
........Tukel syndrome (C536925)
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:	8170
Name:	Ocular Motility Disorders
Definition:	Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Alternative IDs:
ParentIDs:	MESH:D002493\|MESH:D003389\|MESH:D005128
TreeNumbers:	C10.228.758 \|C10.292.562 \|C11.590
Synonyms:	Brown's Tendon Sheath Syndrome \|Brown Tendon Sheath Syndrome \|Conjugate Gaze Spasm \|Conjugate Gaze Spasms \|Convergence Excess \|Convergence Excesses \|Convergence Insufficiencies \|Convergence Insufficiency \|Cyclophoria \|Cyclophorias \|Deficiencies, Smooth Pursuit \|Def
Slim Mappings:	Eye disease\|Nervous system disease
Reference:	MedGen: D015835 MeSH: D015835 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants