Disease browser and phenotype portal

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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: Bulbar Palsy, Progressive (D010244)
Parent Node: Dysarthria (D004401)
Parent Node: Intellectual Disability (D008607)
Parent Node: Sturge-Weber Syndrome (D013341)
..Starting node ..Worster Drought syndrome (C536747)
Child Nodes:
Sister Nodes:
..Worster Drought syndrome (C536747)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11791
Name:	Worster Drought syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004401\|MESH:D008607\|MESH:D010244\|MESH:D013341
TreeNumbers:	C04.557.645.375.850/C536747 \|C10.562.800/C536747 \|C10.574.562.300/C536747 \|C10.597.606.150.500.800.150.200/C536747 \|C10.597.606.643/C536747 \|C10.668.467.300/C536747 \|C14.907.077.850/C536747 \|C23.888.592.604.150.500.800.150.200/C536747 \|C23.888.592.604.646/C53674
Synonyms:	Congenital suprabulbar paresis \|Suprabulbar paresis congenital \|Suprabulbar Paresis, Congenital \|Worster-Drought Syndrome
Slim Mappings:	Cancer\|Cardiovascular disease\|Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536747 MeSH: C536747 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants