MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

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

Disease Browser
Parent Node: immune system disease (MONDO:0005046)
Parent Node: purpura (disease) (MONDO:0002610)
Parent Node: thrombocytopenia (MONDO:0002049)
Parent Node: thrombotic microangiopathy (MONDO:0019737)
..Starting node ..thrombocytopenic purpura ()
Child Nodes:
........autoimmune thrombocytopenic purpura ()
........thrombotic thrombocytopenic purpura ()
Sister Nodes:
..atypical hemolytic-uremic syndrome ()
..methylcobalamin deficiency type cblG ()
..systemic lupus erythematosus (disease) ()
..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:	43768
Name:	thrombocytopenic purpura
Definition:	Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	purpura, Thrombopenic; Purpuras, thrombocytopenic; Purpuras, Thrombopenic; thrombocytopenic purpura; thrombocytopenic Purpuras; Thrombopenic purpura; Thrombopenic Purpuras
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal