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: Embolism, Cholesterol (D017700)
Parent Node: Peripheral Vascular Diseases (D016491)
..Starting node ..Blue Toe Syndrome (D018438)
Child Nodes:
Sister Nodes:
..Blue Toe Syndrome (D018438)
..Erythromelalgia (D004916)
..Livedo Reticularis (D054068) 1
..May-Thurner Syndrome (D062108)
..Peripheral Arterial Disease (D058729) 2
..Phlebitis (D010689) 3
..Raynaud Disease (D011928) 3
..Urethral obstruction sequence (C536477)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1337
Name:	Blue Toe Syndrome
Definition:	A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.
Alternative IDs:
ParentIDs:	MESH:D016491\|MESH:D017700
TreeNumbers:	C14.907.355.350.454.500.200 \|C14.907.617.249
Synonyms:	Syndrome, Blue Toe
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D018438 MeSH: D018438 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants