Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Epilepsy (D004827)
Parent Node: Intellectual Disability (D008607)
Parent Node: Lissencephaly (D054082)
..Starting node ..Kuzniecky syndrome (C538091)
Child Nodes:
Sister Nodes:
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Cobblestone Lissencephaly (D054222) 8
..Fryns-Aftimos Syndrome (C565258)
..Kuzniecky syndrome (C538091)
..Lissencephaly 3 (C566908)
..Lissencephaly Type III and Bone Dysplasia (C563383)
..Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia (C565781)
..Massa Casaer Ceulemans syndrome (C536031)
..Norman Roberts lissencephaly syndrome (C537848)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Pachygyria, frontotemporal (C538092)
..Partial lissencephaly (C536298)
..Winter Harding Hyde syndrome (C536712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6152
Name:	Kuzniecky syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004827\|MESH:D008607\|MESH:D054082
TreeNumbers:	C10.228.140.490/C538091 \|C10.500.507.450.499/C538091 \|C10.597.606.643/C538091 \|C16.131.666.507.450.499/C538091 \|C23.888.592.604.646/C538091 \|F03.550.600/C538091
Synonyms:	Pachygyria, mental retardation and epilepsy \|Pachygyria with mental retardation and seizures
Slim Mappings:	Congenital abnormality\|Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C538091 MeSH: C538091 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants