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: Brain Diseases (D001927)
..Starting node ..Leukoencephalopathies (D056784)
Child Nodes:
........Ataxia, Spastic, 3, Autosomal Recessive (C566956)
........Brain Small Vessel Disease with Hemorrhage (C564372)
........Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
........Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
........Dementia, Vascular (D015140) 3
........Demyelinating Autoimmune Diseases, CNS (D020278) 15
........Gliosis, Familial Progressive Subcortical (C565634)
........Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
........Hereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
........Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
........Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
........LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
........Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
........Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
........Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
........Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
........Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
........Leukoencephalopathy, Progressive Multifocal (D007968)
........Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
........Posterior Leukoencephalopathy Syndrome (D054038)
........Ribose 5-Phosphate Isomerase Deficiency (C563212)
........Telencephalic leukoencephalopathy (C536954)
........Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Sister Nodes:
..Akinetic Mutism (D000405)
..Amblyopia (D000550) 2
..Amnesia, Transient Global (D020236)
..Auditory Diseases, Central (D001304) 19
..Baraitser Brett Piesowicz syndrome (C537905)
..Basal Ganglia Diseases (D001480) 102
..Beta-Ureidopropionase Deficiency (C563210)
..Brain Abscess (D001922) 1
..Brain Damage, Chronic (D001925) 13
..Brain Death (D001926)
..Brain Diseases, Metabolic (D001928) 244
..Brain Edema (D001929) 1
..Brain Injuries (D001930) 11
..Brain Neoplasms (D001932) 30
..Cerebellar Diseases (D002526) 162
..Cerebrovascular Disorders (D002561) 108
..Colpocephaly (C535973)
..Crome syndrome (C536216)
..Dementia (D003704) 73
..Dermatoleukodystrophy (C538220)
..Diffuse Cerebral Sclerosis of Schilder (D002549) 3
..Encephalitis (D004660) 32
..Encephalomalacia (D004678) 2
..Epilepsy (D004827) 196
..Granulomas, congenital cerebral (C537294)
..Hashimoto's encephalitis (C535841)
..Headache Disorders (D020773) 26
..Hydrocephalus (D006849) 52
..Hypothalamic Diseases (D007027) 80
..Hypoxia, Brain (D002534) 2
..Intracranial Hypertension (D019586) 57
..Intracranial Hypotension (D019585)
..Keratosis follicularis dwarfism cerebral atrophy (C536158)
..Kluver-Bucy Syndrome (D020232) 1
..Leukoencephalopathies (D056784) 70
..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Neu Laxova syndrome (C536405)
..Neuroaxonal Dystrophies (D019150) 13
..Non-lissencephalic cortical dysplasia (C536243)
..RAJAB SYNDROME (OMIM:613658)
..Rambaud Galian syndrome (C535283)
..Sener syndrome (C537579)
..Sepsis-Associated Encephalopathy (D065166)
..Spastic Pseudosclerosis (C563024)
..Subdural Effusion (D013353)
..Thalamic Diseases (D013786) 1
..Thyrocerebral-retinal syndrome (C536908)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6390
Name:	Leukoencephalopathies
Definition:	Any of various diseases affecting the white matter of the central nervous system.
Alternative IDs:
ParentIDs:	MESH:D001927
TreeNumbers:	C10.228.140.695
Synonyms:	CACH Syndrome \|CACH Syndromes \|CACH/VWM Syndrome \|CACH/VWM Syndromes \|Centralis Diffusa, Myelinosis \|Centralis Diffusas, Myelinosis \|Childhood Ataxia with Central Nervous System Hypomyelination \|Childhood Ataxia with Central Nervous System Hypomyelinization \|Chi
Slim Mappings:	Nervous system disease
Reference:	MedGen: D056784 MeSH: D056784 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants