MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expandEctodermal Dysplasia (D004476)
Parent Node:
expandNervous System Diseases (D009422)
..Starting node
..expandNeurocutaneous 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  LSDB C:1
........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  LSDB C:1
..expandAutonomic Nervous System Diseases (D001342) Child51  LSDB C:3
..expandCentral Nervous System Diseases (D002493) Child1489  LSDB C:53
..expandChronobiology Disorders (D021081) Child5
..expandCongenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..expandCranial Nerve Diseases (D003389) Child238  LSDB C:17
..expandDemyelinating Diseases (D003711) Child75  LSDB C:3
..expandMarcus Gunn phenomenon (C535908)
..expandNervous System Malformations (D009421) Child567  LSDB C:5
..expandNervous System Neoplasms (D009423) Child89  LSDB C:1
..expandNeurocutaneous Syndromes (D020752) Child42  LSDB C:1
..expandNeurodegenerative Diseases (D019636) Child704  LSDB C:22
..expandNeurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..expandNeurologic Manifestations (D009461) Child1586  LSDB C:34
..expandNEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
..expandNeuromuscular Diseases (D009468) Child811  LSDB C:39
..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 Wake Disorders (D012893) Child41
..expandTang Hsi Ryu syndrome (C536897)
..expandTrauma, Nervous System (D020196) Child73
..expandTrifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)  LSDB  L: 00417;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8776
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:
MSeqDR LSDB:
MSeqDR has 1 matches in descendants: 00392;  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal