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)
..Starting node ..Brain Diseases (D001927)
Child 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)
Sister Nodes:
..Brain Diseases (D001927) 1149
..Central Nervous System Infections (D002494) 96
..Encephalomyelitis (D004679) 8
..Endocrine-Cerebroosteodysplasia (C567210)
..Flynn Aird syndrome (C537066)
..High Pressure Neurological Syndrome (D006610)
..Meningitis (D008581) 19
..Movement Disorders (D009069) 306
..Neurosarcoidosis (C535814)
..Ocular Motility Disorders (D015835) 109
..Pneumocephalus (D011007)
..Renal cysts and diabetes syndrome (C535520)
..Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
..Spinal Cord Diseases (D013118) 170
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1446
Name:	Brain Diseases
Definition:	Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
Alternative IDs:
ParentIDs:	MESH:D002493
TreeNumbers:	C10.228.140
Synonyms:	Brain Disease \|Brain Disorder \|Brain Disorders \|Central Nervous System Disorders, Intracranial \|Central Nervous System Intracranial Disorders \|CNS Disorder, Intracranial \|CNS Disorders, Intracranial \|Encephalon Disease \|Encephalon Diseases \|Intracranial Central N
Slim Mappings:	Nervous system disease
Reference:	MedGen: D001927 MeSH: D001927 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants