MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: thrombocytopenic purpura (MONDO:0043768)
Parent Node: thrombophilia (MONDO:0002305)
Parent Node: thrombotic disorder due to a platelet anomaly (MONDO:0016635)
..Starting node ..thrombotic thrombocytopenic purpura ()
Child Nodes:
........acquired thrombotic thrombocytopenic purpura ()
........congenital thrombotic thrombocytopenic purpura ()
Sister Nodes:
..thrombotic disorder due to a constitutional platelet anomaly ()
..thrombotic disorder due to an acquired platelet anomaly ()
..thrombotic thrombocytopenic purpura ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18896
Name:	thrombotic thrombocytopenic purpura
Definition:	Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Moschcowitz disease; Moschcowitz's syndrome; Moschowitz disease; TTP
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal