Disease browser and phenotype portal

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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

Disease Browser
Parent Node: Mental Disorders (D001523)
Parent Node: Nervous System Diseases (D009422)
Parent Node: Neurologic Manifestations (D009461)
..Starting node ..Sleep Disorders (D012893)
Child Nodes:
........Autosomal Dominant Lateral Temporal Lobe Epilepsy (C537297)
........Dyssomnias (D020920) 27
........Parasomnias (D020447) 15
........Sleep Deprivation (D012892)
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:	10311
Name:	Sleep Disorders
Definition:	Conditions characterized by disturbances of usual sleep patterns or behaviors. Sleep disorders may be divided into three major categories: DYSSOMNIAS (i.e. disorders characterized by insomnia or hypersomnia), PARASOMNIAS (abnormal sleep behaviors), and sleep disorders secondary to medical or psychiatric disorders. (From Thorpy, Sleep Disorders Medicine, 1994, p187)
Alternative IDs:
ParentIDs:	MESH:D001523\|MESH:D009422\|MESH:D009461
TreeNumbers:	C10.886 \|C23.888.592.796 \|F03.870
Synonyms:	Long Sleeper Syndrome \|Long Sleeper Syndromes \|Neurogenic Tachypnea, Sleep-Related \|Neurogenic Tachypneas, Sleep-Related \|Phenotype, Short Sleep \|Phenotypes, Short Sleep \|Short Sleeper Syndrome \|Short Sleeper Syndromes \|Short Sleep Phenotype \|Short Sleep Phenotyp
Slim Mappings:	Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D012893 MeSH: D012893 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants