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:
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Ectodermal Dysplasia (D004476)
Parent Node:
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Nervous System Diseases (D009422)
..Starting node
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Neurocutaneous Syndromes (D020752)

       Child Nodes:
........expandAngioma hereditary neurocutaneous (C536364)
........expandAtaxia Telangiectasia (D001260) Child6
........expandCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
........expandElejalde Disease (C536203)
........expandEncephalocraniocutaneous lipomatosis (C535736)
........expandGomez Lopez Hernandez syndrome (C537285)
........expandJohnson neuroectodermal syndrome (C535882)
........expandNeurocutaneous melanosis (C537387)
........expandNeurofibromatoses (D017253) Child13
........expandNevus, Sebaceous of Jadassohn (D054000) Child1
........expandPHACE association (C537892)
........expandPhacomatosis pigmentovascularis (C537894)
........expandSturge-Weber Syndrome (D013341) Child1
........expandTuberous Sclerosis (D014402) Child4
........expandvon Hippel-Lindau Disease (D006623)
........expandWyburn Mason's syndrome (C536752)
........expandZunich neuroectodermal syndrome (C536729)



 Sister Nodes: 
..expandAlpha-Methylacyl-CoA Racemase Deficiency (C565768)
..expandAutoimmune Diseases of the Nervous System (D020274) Child60
..expandAutonomic Nervous System Diseases (D001342) Child51
..expandCentral Nervous System Diseases (D002493) Child1489
..expandChronobiology Disorders (D021081) Child5
..expandCongenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..expandCranial Nerve Diseases (D003389) Child238
..expandDemyelinating Diseases (D003711) Child75
..expandMarcus Gunn phenomenon (C535908)
..expandNervous System Malformations (D009421) Child567
..expandNervous System Neoplasms (D009423) Child89
..expandNeurocutaneous Syndromes (D020752) Child42
..expandNeurodegenerative Diseases (D019636) Child704
..expandNeurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..expandNeurologic Manifestations (D009461) Child1586
..expandNeuromuscular Diseases (D009468) Child811
..expandNeuronal intestinal pseudoobstruction (C537394)
..expandNeurotoxicity Syndromes (D020258) Child20
..expandNorrie disease (C537849)
..expandPolyglucosan Body Disease, Adult Form (C564878)
..expandRestless Legs Syndrome (D012148) Child2
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandSleep Disorders (D012893) Child41
..expandTang Hsi Ryu syndrome (C536897)
..expandTrauma, Nervous System (D020196) Child73
..expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7939
Name:Neurocutaneous Syndromes
Definition:A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Alternative IDs:
ParentIDs:MESH:D004476|MESH:D009422
TreeNumbers:C10.562 |C16.131.077.350.712 |C16.131.831.350.712 |C16.320.850.250.712 |C17.800.804.350.712 |C17.800.827.250.712
Synonyms:Neurocutaneous Disorder |Neurocutaneous Disorders |Neurocutaneous Syndrome |Neuroectodermal Dysplasia Syndrome |Neuroectodermal Dysplasia Syndromes |Phacomatoses |Phacomatosis |Phakomatoses |Phakomatosis |Syndrome, Neurocutaneous |Syndrome, Neuroectodermal Dysplas
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease
Reference: MedGen: D020752
MeSH: D020752
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants