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: Hearing Loss, Sensorineural (D006319)
Parent Node: Hyperparathyroidism (D006961)
Parent Node: Kidney Failure, Chronic (D007676)
..Starting node ..Nephropathy deafness hyperparathyroidism (C536401)
Child Nodes:
Sister Nodes:
..Frasier Syndrome (D052159)
..Nephropathy deafness hyperparathyroidism (C536401)
..Nephropathy, Progressive, with Deafness (C563713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7889
Name:	Nephropathy deafness hyperparathyroidism
Definition:
Alternative IDs:
ParentIDs:	MESH:D006319\|MESH:D006961\|MESH:D007676
TreeNumbers:	C09.218.458.341.887/C536401 \|C10.597.751.418.341.887/C536401 \|C12.777.419.780.750.500/C536401 \|C13.351.968.419.780.750.500/C536401 \|C19.642.355/C536401 \|C23.888.592.763.393.341.887/C536401
Synonyms:	Nephropathy, Deafness, And Hyperparathyroidism
Slim Mappings:	Ear-nose-throat disease\|Endocrine system disease\|Nervous system disease\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C536401 MeSH: C536401 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants