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: disease of catalytic activity (MONDO:0044976)
Parent Node: inborn errors of metabolism (MONDO:0019052)
Parent Node: rare hereditary thrombophilia (MONDO:0016320)
Parent Node: thrombophilia (MONDO:0002305)
..Starting node ..hereditary thrombophilia due to congenital protein C deficiency ()
Child Nodes:
........thrombophilia due to protein C deficiency, autosomal dominant ()
........thrombophilia due to protein C deficiency, autosomal recessive ()
Sister Nodes:
..antithrombin deficiency type 2 ()
..antithrombin III deficiency ()
..disseminated intravascular coagulation ()
..factor 5 excess with spontaneous thrombosis ()
..heparin cofactor 2 deficiency ()
..hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency ()
..hereditary thrombophilia due to congenital protein C deficiency ()
..protein S deficiency ()
..THPH9 ()
..thrombomodulin-related bleeding disorder ()
..thrombophilia due to activated protein C resistance ()
..thrombophilia due to thrombin defect ()
..thrombophilia, X-linked, due to factor 9 defect ()
..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:	19145
Name:	hereditary thrombophilia due to congenital protein C deficiency
Definition:	Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	autosomal recessive thrombophilia due to congenital protein C deficiency; autosomal recessive thrombophilia due to PC deficiency; hereditary thrombophilia due to PC deficiency; Protein C deficiency; protein C deficiency; Protein C deficiency disease; severe hereditary thrombophilia due to congenital
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
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