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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: Donohue Syndrome (D056731)
..Starting node ..Insulin Receptor, Defect in (C562709)
Child Nodes:
Sister Nodes:
..Insulin Receptor, Defect in (C562709)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5841
Name:	Insulin Receptor, Defect in
Definition:
Alternative IDs:
ParentIDs:	MESH:D056731
TreeNumbers:	C05.660.207.325/C562709 \|C16.131.077.313/C562709 \|C16.320.215/C562709 \|C18.452.394.750.654/C562709 \|C19.246.537/C562709
Synonyms:
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease
Reference:	MedGen: C562709 MeSH: C562709 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants