Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Genetic Diseases, Inborn (D030342)
Parent Node:
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Neurodegenerative Diseases (D019636)
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Heredodegenerative Disorders, Nervous System (D020271)

       Child Nodes:
........expandAlexander Disease (D038261) Child1
........expandAmyloid Neuropathies, Familial (D028227) Child1
........expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
........expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
........expandCanavan Disease (D017825)
........expandCerebrocortical Degeneration of Infancy (C565863)
........expandCockayne Syndrome (D003057) Child6
........expandDystonia Musculorum Deformans (D004422) Child7
........expandFamilial encephalopathy with neuroserpin inclusion bodies (C536841)
........expandFatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
........expandGerstmann-Straussler-Scheinker Disease (D016098)
........expandHepatolenticular Degeneration (D006527) Child2
........expandHereditary Central Nervous System Demyelinating Diseases (D020279) Child29
........expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
........expandHereditary Sensory and Motor Neuropathy (D015417) Child164
........expandHuntington Disease (D006816) Child3
........expandHuntington Disease-Like 2 (C564708)
........expandHuntington Disease-Like Syndrome (C580174)
........expandLafora Disease (D020192)
........expandLesch-Nyhan Syndrome (D007926) Child1
........expandLipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
........expandMenkes Kinky Hair Syndrome (D007706) Child1
........expandMental Retardation, X-Linked (D038901) Child134
........expandMicrophthalmia, Syndromic 10 (C566985)
........expandMuscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
........expandMyotonia Congenita (D009224) Child5
........expandMyotonic Dystrophy (D009223) Child1
........expandNavajo neurohepatopathy (C538344) Child1
........expandNeuroacanthocytosis (D054546) Child1
........expandNeurofibromatoses (D017253) Child13
........expandNeuronal Ceroid-Lipofuscinoses (D009472) Child9
........expandNeuropathy, Hereditary Sensory, Atypical (C564946)
........expandOptic Atrophies, Hereditary (D015418) Child30
........expandOpticocochleodentate Degeneration (C563002)
........expandPantothenate Kinase-Associated Neurodegeneration (D006211) Child1
........expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
........expandPeripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
........expandRett Syndrome (D015518) Child5
........expandScapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
........expandSpinal Muscular Atrophies of Childhood (D014897) Child7
........expandSpinocerebellar Degenerations (D013132) Child85
........expandSpongiform Encephalopathy with Neuropsychiatric Features (C564678)
........expandTourette Syndrome (D005879) Child2
........expandTuberous Sclerosis (D014402) Child4
........expandUnverricht-Lundborg Syndrome (D020194)



 Sister Nodes: 
..expandFamilial apoceruloplasmin deficiency (C536004)
..expandFeigenbaum Bergeron Richardson syndrome (C536178)
..expandHeredodegenerative Disorders, Nervous System (D020271) Child543
..expandIdiopathic basal ganglia calcification 1 (C536275)
..expandLewy Body Disease (D020961) Child3
..expandMotor Neuron Disease (D016472) Child64
..expandMultiple System Atrophy (D019578) Child21
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..expandNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
..expandNeuronal intranuclear inclusion disease (C537395)
..expandOlivopontocerebellar Atrophies (D009849) Child15
..expandParaneoplastic Syndromes, Nervous System (D020361) Child10
..expandParkinson Disease (D010300) Child24
..expandPEHO syndrome (C536317)
..expandPostpoliomyelitis Syndrome (D016262)
..expandPrion Diseases (D017096) Child12
..expandRadiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant (C565326)
..expandShy-Drager Syndrome (D012791)
..expandSpastic Pseudosclerosis (C563024)
..expandSubacute Combined Degeneration (D052879)
..expandTauopathies (D024801) Child32
..expandTDP-43 Proteinopathies (D057177) Child32
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5125
Name:Heredodegenerative Disorders, Nervous System
Definition:Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
Alternative IDs:
ParentIDs:MESH:D019636|MESH:D030342
TreeNumbers:C10.574.500 |C16.320.400
Synonyms:Degenerative Disease, Nervous System, Hereditary |Degenerative Hereditary Diseases, Nervous System |Degenerative Hereditary Disorders, Nervous System |Disease, Hereditary Neurodegenerative |Disease, Neurodegenerative Hereditary |Diseases, Hereditary Neurodege
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: D020271
MeSH: D020271
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants