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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: Hamartoma Syndrome, Multiple (D006223)
Parent Node: Malformations of Cortical Development, Group I (D065703)
..Starting node ..Cerebellar Granule Cell Hypertrophy and Megalencephaly (C563565)
Child Nodes:
Sister Nodes:
..Cerebellar Granule Cell Hypertrophy and Megalencephaly (C563565)
..Focal cortical dysplasia of Taylor (C537067)
..Megalencephaly (D058627) 23
..Microcephaly (D008831) 140
..Tuberous Sclerosis (D014402) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1926
Name:	Cerebellar Granule Cell Hypertrophy and Megalencephaly
Definition:
Alternative IDs:
ParentIDs:	MESH:D006223\|MESH:D065703
TreeNumbers:	C04.445.435/C563565 \|C04.651.435/C563565 \|C04.700.435/C563565 \|C10.500.507.400/C563565 \|C16.131.666.507.400/C563565 \|C16.320.700.435/C563565
Synonyms:
Slim Mappings:	Cancer\|Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C563565 MeSH: C563565 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants