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 ..Neuroaxonal Dystrophies (D019150)
Child Nodes:
........Hunter Carpenter Macdonald syndrome (C536071)
........Karak Syndrome (C548029)
........NBIA2B (C565699)
........Neuroaxonal dystrophy renal tubular acidosis (C537386)
........Neurodegeneration Due To Cerebral Folate Transport Deficiency (C567791)
........Neurodegeneration with brain iron accumulation (NBIA) (C538421) 2
........Neuroferritinopathy (C548080)
........Osteopetrosis and infantile neuroaxonal dystrophy (C536055)
........Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
........Schindler Disease, Type I (C536631)
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:	7933
Name:	Neuroaxonal Dystrophies
Definition:	A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Alternative IDs:
ParentIDs:	MESH:D001927
TreeNumbers:	C10.228.140.744
Synonyms:	Adult Neuroaxonal Dystrophy \|Disease, Seitelberger \|Disease, Seitelberger's \|Dystrophy, Adult Neuroaxonal \|Dystrophy, Infantile Neuroaxonal \|Dystrophy, Juvenile Neuroaxonal \|Dystrophy, Neuroaxonal \|Infantile Neuroaxonal Dystrophy \|Juvenile Neuroaxonal Dystrophy \|
Slim Mappings:	Nervous system disease
Reference:	MedGen: D019150 MeSH: D019150 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants