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:
expandCongenital Abnormalities (D000013)
Parent Node:
expandNervous System Diseases (D009422)
..Starting node
..expandNervous System Malformations (D009421)

       Child Nodes:
........expandAgenesis of Corpus Callosum (D061085) Child59
........expandAicardi-Goutieres syndrome (C535607) Child1
........expandAicardi-Goutieres Syndrome 3 (C563683)
........expandAicardi-Goutieres Syndrome 4 (C563681)
........expandAicardi-Goutieres syndrome 5 (C535608)
........expandAthabaskan brainstem dysgenesis (C535397)
........expandCentral Nervous System Cysts (D020863) Child11
........expandCentral Nervous System Vascular Malformations (D020785) Child10
........expandCerebellar Hypoplasia (C562568)
........expandChromosome 17p13.3 Duplication Syndrome (C567705)
........expandDandy-Walker Syndrome (D003616) Child13
........expandDrachtman Weinblatt Sitarz syndrome (C535603)
........expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
........expandHereditary Sensory and Motor Neuropathy (D015417) Child164
........expandHydranencephaly (D006832) Child3
........expandMalformations of Cortical Development (D054220) Child226
........expandMedian-Ulnar Nerve Communications (C563598)
........expandMicrophthalmia, Syndromic 3 (C565948)
........expandMicrophthalmia, Syndromic 6 (C566440)
........expandNeural Tube Defects (D009436) Child55
........expandSchisis association (C536633)
........expandSepto-Optic Dysplasia (D025962) Child6



 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:7910
Name:Nervous System Malformations
Definition:Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Alternative IDs:
ParentIDs:MESH:D000013|MESH:D009422
TreeNumbers:C10.500 |C16.131.666
Synonyms:Abnormalities, Congenital, Nervous System |Abnormalities, Nervous System |Abnormality, Nervous System |Anomalies, Nervous System |Anomaly, Nervous System |Congenital Abnormalities, Nervous System |Congenital Anomalies, Nervous System |Congenital Malformations,
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: D009421
MeSH: D009421
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants