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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: Brain Diseases (D001927)
Parent Node: Developmental Disabilities (D002658)
Parent Node: Malformations of Cortical Development (D054220)
Parent Node: Movement Disorders (D009069)
Parent Node: Speech Disorders (D013064)
..Starting node ..Non-lissencephalic cortical dysplasia (C536243)
Child Nodes:
Sister Nodes:
..Aphasia (D001037) 6
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Articulation Disorders (D001184) 7
..Atonic-Astatic Syndrome of Foerster (C565926)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Echolalia (D004454)
..Maxillofacial Dysostosis (C563599)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mutism (D009155)
..Non-lissencephalic cortical dysplasia (C536243)
..Opticocochleodentate Degeneration (C563002)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Speech disturbance - use of faulty phrasing and unrelated words (C538446)
..Stuttering (D013342) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8106
Name:	Non-lissencephalic cortical dysplasia
Definition:
Alternative IDs:
ParentIDs:	MESH:D001927\|MESH:D002658\|MESH:D009069\|MESH:D013064\|MESH:D054220
TreeNumbers:	C10.228.140/C536243 \|C10.228.662/C536243 \|C10.500.507/C536243 \|C10.597.606.150.500.800/C536243 \|C16.131.666.507/C536243 \|C23.888.592.604.150.500.800/C536243 \|F03.550.362/C536243
Synonyms:
Slim Mappings:	Congenital abnormality\|Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536243 MeSH: C536243 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants