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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: Mental Retardation, X-Linked (D038901)
Parent Node: Muscle Spasticity (D009128)
Parent Node: Psychotic Disorders (D011618)
..Starting node ..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
Child Nodes:
Sister Nodes:
..Gardner-Diamond syndrome (C535645)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Methylenetetrahydrofolate reductase deficiency (C537357)
..Psychoses, Substance-Induced (D011605) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7009
Name:	Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism
Definition:
Alternative IDs:
ParentIDs:	MESH:D009128\|MESH:D011618\|MESH:D038901
TreeNumbers:	C05.651.512/C564724 \|C10.597.606.643.455/C564724 \|C10.597.613.550.550/C564724 \|C16.320.322.500/C564724 \|C16.320.400.525/C564724 \|C23.888.592.608.550.550/C564724 \|F03.700.675/C564724
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C564724 MeSH: C564724 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants