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 ..Akinetic Mutism (D000405)
Child Nodes:
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:	390
Name:	Akinetic Mutism
Definition:	A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral FRONTAL LOBE dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)
Alternative IDs:
ParentIDs:	MESH:D001927
TreeNumbers:	C10.228.140.042
Synonyms:	Akinetic Autism \|Akinetic Mutisms \|Autism, Akinetic \|Coma Vigil \|Coma Vigilans \|Mutism, Akinetic \|Vigil, Coma \|Vigils, Coma
Slim Mappings:	Nervous system disease
Reference:	MedGen: D000405 MeSH: D000405 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants