Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Heredodegenerative Disorders, Nervous System (D020271)
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Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)

       Child Nodes:



 Sister 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)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4204
Name:Fatty Acid Hydroxylase-Associated Neurodegeneration
Definition:
Alternative IDs:
ParentIDs:MESH:D020271
TreeNumbers:C10.574.500/C580102 |C16.320.400/C580102
Synonyms:Dysmyelinating Leukodystrophy and Spastic Paraparesis |Spastic Paraplegia 35
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C580102
MeSH: C580102
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants