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: Peripheral Vascular Diseases (D016491)
Parent Node: Skin Diseases, Vascular (D017445)
Parent Node: Skin Manifestations (D012877)
..Starting node ..Livedo Reticularis (D054068)
Child Nodes:
........Aortic Aneurysm, Familial Thoracic 6 (C567085)
Sister Nodes:
..Cafe-au-Lait Spots (D019080) 4
..Ecchymosis (D004438)
..Jaundice (D007565) 6
..Livedo Reticularis (D054068) 1
..Necrolytic Migratory Erythema (D058568)
..Pallor (D010167)
..Pruritus (D011537) 6
..Purpura (D011693) 15
..Striae Distensae (D057896) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6496
Name:	Livedo Reticularis
Definition:	A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.
Alternative IDs:
ParentIDs:	MESH:D012877\|MESH:D016491\|MESH:D017445
TreeNumbers:	C14.907.617.625 \|C17.800.862.355 \|C23.888.885.437
Synonyms:
Slim Mappings:	Cardiovascular disease\|Signs and symptoms\|Skin disease
Reference:	MedGen: D054068 MeSH: D054068 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants