Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Blood Coagulation Disorders (D001778)
Parent Node: Hemorrhage (D006470)
Parent Node: Skin Manifestations (D012877)
..Starting node ..Purpura (D011693)
Child Nodes:
........Ethylmalonic encephalopathy (C535737)
........Pigmented purpuric eruption (C537186)
........Purpura Fulminans (D055665)
........Purpura simplex (C536249)
........Purpura, Hyperglobulinemic (D011694)
........Purpura, Schoenlein-Henoch (D011695) 1
........Purpura, Thrombocytopenic (D011696) 5
........Waterhouse-Friderichsen Syndrome (D014884) 1
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:	9510
Name:	Purpura
Definition:	Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. When the size of the discolorization is >2-3 cm it is generally called Ecchymoses (ECCHYMOSIS).
Alternative IDs:
ParentIDs:	MESH:D001778\|MESH:D006470\|MESH:D012877
TreeNumbers:	C15.378.100.802 \|C23.550.414.950 \|C23.888.885.687
Synonyms:	Petechiae \|Purpuras
Slim Mappings:	Blood disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: D011693 MeSH: D011693 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants