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 ..Basal Ganglia Diseases (D001480)
Child Nodes:
........Alopecia hypogonadism extrapyramidal disorder (C537053)
........Basal ganglia calcification, idiopathic 2 (C537657)
........Basal Ganglia Cerebrovascular Disease (D020144) 2
........Basal ganglia disease, biotin-responsive (C537658)
........Chorea Gravidarum (D020150)
........Dystonia Musculorum Deformans (D004422) 7
........Hepatolenticular Degeneration (D006527) 2
........Huntington Disease (D006816) 3
........Idiopathic basal ganglia calcification 1 (C536275)
........Idiopathic basal ganglia calcification, childhood onset (C536276)
........Meige Syndrome (D008538)
........Mental retardation, X-linked, syndromic 5 (C535773)
........Multiple System Atrophy (D019578) 21
........Neuhauser Eichner Opitz syndrome (C536407)
........Neuroleptic Malignant Syndrome (D009459)
........Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
........Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
........Parkinsonian Disorders (D020734) 39
........Parkinsonism, early onset with mental retardation (C537179)
........Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
........Supranuclear Palsy, Progressive (D013494) 5
........Tourette Syndrome (D005879) 2
........Woodhouse Sakati syndrome (C536742)
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:	1189
Name:	Basal Ganglia Diseases
Definition:	Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
Alternative IDs:
ParentIDs:	MESH:D001927
TreeNumbers:	C10.228.140.079
Synonyms:	Basal Ganglia Disease \|Basal Ganglia Disorder \|Basal Ganglia Disorders \|Extrapyramidal Disorder \|Extrapyramidal Disorders \|Lenticulostriate Disorder \|Lenticulostriate Disorders
Slim Mappings:	Nervous system disease
Reference:	MedGen: D001480 MeSH: D001480 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants