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:
expandNervous System Malformations (D009421)
..Starting node
..expandMalformations of Cortical Development (D054220)

       Child Nodes:
........expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
........expandCK SYNDROME (OMIM:300831)
........expandCortical Dysplasia of Taylor without Balloon Cells (C564583)
........expandCortical Dysplasia-Focal Epilepsy Syndrome (C566482)
........expandCuratolo Cilio Pessagno syndrome (C536701)
........expandFamilial schizencephaly (C538514)
........expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
........expandMalformations of Cortical Development, Group I (D065703) Child172
........expandMalformations of Cortical Development, Group II (D054081) Child35
........expandMalformations of Cortical Development, Group III (D065704) Child4
........expandMegalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
........expandMuller Barth Menger syndrome (C537370)
........expandNon-lissencephalic cortical dysplasia (C536243)
........expandPerisylvian syndrome (C536658)
........expandPitt-Hopkins-Like Syndrome 1 (C567657)
........expandPolymicrogyria With Optic Nerve Hypoplasia (C567715)
........expandPolymicrogyria, Asymmetric (C567658)
........expandPolymicrogyria, Bilateral Frontoparietal (C564652)
........expandPolymicrogyria, Bilateral Occipital (C567201)
........expandPOLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)



 Sister 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
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6728
Name:Malformations of Cortical Development
Definition:Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
Alternative IDs:
ParentIDs:MESH:D009421
TreeNumbers:C10.500.507 |C16.131.666.507
Synonyms:Cerebral Cortical Dysplasia |Cerebral Cortical Dysplasias |Cortical Development Malformation |Cortical Development Malformations |Cortical Dysplasia |Cortical Dysplasia, Cerebral |Cortical Dysplasias |Cortical Dysplasias, Cerebral |Development Malformation, Cort
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: D054220
MeSH: D054220
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants