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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: Intellectual Disability (D008607)
Parent Node: Pseudobulbar Palsy (D020828)
..Starting node ..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
Child Nodes:
Sister Nodes:
..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6665
Name:	Macrogyria, pseudobulbar palsy and mental retardation
Definition:
Alternative IDs:
ParentIDs:	MESH:D001927\|MESH:D008607\|MESH:D020828
TreeNumbers:	C10.228.140/C537722 \|C10.597.606.643/C537722 \|C10.597.622.714/C537722 \|C23.888.592.604.646/C537722 \|C23.888.592.636.711/C537722 \|F03.550.600/C537722
Synonyms:	Kuzniecky Andermann syndrome
Slim Mappings:	Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C537722 MeSH: C537722 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants