Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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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)
Parent Node: Neurologic Manifestations (D009461)
..Starting node ..Pupil Disorders (D011681)
Child Nodes:
........Anisocoria (D015875)
........Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
........Ectopia Lentis with Ectopia of Pupil (C563268)
........Ectopia pupillae (C536185)
........McPherson Robertson Cammarano syndrome (C538161)
........Microcoria, congenital (C537550)
........Microphthalmia, Isolated, With Corectopia (C563581)
........Miosis (D015877) 5
........Mydriasis (D015878) 1
........Pierson syndrome (C537185)
........Ptosis, Strabismus, And Ectopic Pupils (C566736)
........Tonic Pupil (D015845) 2
Sister Nodes:
..Cerebrospinal Fluid Leak (D065634) 2
..Decerebrate State (D003655)
..Diabetes Mellitus, Permanent Neonatal, With Neurologic Features (C563424)
..Dyskinesias (D020820) 199
..Gait Disorders, Neurologic (D020233) 2
..Meningism (D008580)
..Neurobehavioral Manifestations (D019954) 701
..Neurogenic Inflammation (D020078)
..Neuromuscular Manifestations (D020879) 103
..Orthostatic Intolerance (D054971) 8
..Pain (D010146) 55
..Paralysis (D010243) 83
..Paresis (D010291) 10
..Psychophysiologic Disorders (D011602)
..Pupil Disorders (D011681) 20
..Reflex, Abnormal (D012021) 5
..Seizures (D012640) 40
..Sensation Disorders (D012678) 478
..Sleep Disorders (D012893) 41
..Susac Syndrome (D055955)
..Urinary Bladder, Neurogenic (D001750)
..Vertigo (D014717) 5
..Voice Disorders (D014832) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9504
Name:	Pupil Disorders
Definition:	Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes.
Alternative IDs:
ParentIDs:	MESH:D005128\|MESH:D009461
TreeNumbers:	C10.597.690 \|C11.710 \|C23.888.592.708
Synonyms:	Abnormal Pupillary Function \|Abnormal Pupillary Functions \|Afferent Pupillary Defect \|Afferent Pupillary Defects \|Anomalies, Pupillary \|Anomaly, Pupillary \|Argyll-Robertson Pupil, Non-Syphilitic \|Deformed Pupil \|Deformed Pupils \|Ectopic Pupil \|Ectopic Pupils \|Effer
Slim Mappings:	Eye disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D011681 MeSH: D011681 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants