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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Malformations of Cortical Development (D054220)
..Starting node ..Cortical Dysplasia of Taylor without Balloon Cells (C564583)
Child Nodes:
Sister Nodes:
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..CK SYNDROME (OMIM:300831)
..Cortical Dysplasia of Taylor without Balloon Cells (C564583)
..Cortical Dysplasia-Focal Epilepsy Syndrome (C566482)
..Curatolo Cilio Pessagno syndrome (C536701)
..Familial schizencephaly (C538514)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Malformations of Cortical Development, Group I (D065703) 172
..Malformations of Cortical Development, Group II (D054081) 35
..Malformations of Cortical Development, Group III (D065704) 4
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Muller Barth Menger syndrome (C537370)
..Non-lissencephalic cortical dysplasia (C536243)
..Perisylvian syndrome (C536658)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Polymicrogyria With Optic Nerve Hypoplasia (C567715)
..Polymicrogyria, Asymmetric (C567658)
..Polymicrogyria, Bilateral Frontoparietal (C564652)
..Polymicrogyria, Bilateral Occipital (C567201)
..POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2779
Name:	Cortical Dysplasia of Taylor without Balloon Cells
Definition:
Alternative IDs:
ParentIDs:	MESH:D054220
TreeNumbers:	C10.500.507/C564583 \|C16.131.666.507/C564583
Synonyms:	Cortical Dysplasia of Taylor, Dysplasia Only
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: C564583 MeSH: C564583 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants