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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Thrombophilia (D019851)
..Starting node ..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
Child Nodes:
Sister Nodes:
..Activated Protein C Resistance (D020016) 1
..Antithrombin deficiency type 2 (C537779)
..Antithrombin III Deficiency (D020152)
..Disseminated Intravascular Coagulation (D004211)
..Factor V Excess with Spontaneous Thrombosis (C565026)
..Hyperprothrombinemia (C566755)
..Protein C Deficiency (D020151) 5
..Protein S Deficiency (D018455) 4
..Purpura, Thrombotic Thrombocytopenic (D011697) 1
..Thrombomodulin anomalies, familial (C536900)
..Thrombophilia Due To Elevated Histidine-Rich Glycoprotein (C567737)
..Thrombophilia due to Thrombomodulin Defect (C566057)
..Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator (C567341)
..THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSU (OMIM:612348)
..Thrombophilia, hereditary (C540694)
..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11022

Name:

Thrombophilia, X-Linked, Due To Factor Ix Defect

Definition:

Alternative IDs:

OMIM:300807

ParentIDs:

MESH:D019851|MESH:D040181

TreeNumbers:

C15.378.925/C567581 |C16.320.322/C567581

Synonyms:

DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED |THPH8

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C567581
MeSH: C567581
OMIM: 300807;

Genes:

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0010989	Abnormality of the intrinsic pathway
3	HP:0002625	Deep venous thrombosis
4	HP:0100724	Hypercoagulability

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000133.3(F9):c.1151G>T (p.Arg384Leu)	2158	F9	Pathogenic	137852283	RCV000119810; RCV000011414;	N	MedGen:C0008533,OMIM:306900,ORPHA:98879,SNOMED CT:41788008; MedGen:C2749016,OMIM:300807	X	138643995	138643995	NM_000133.3:c.1151G>T	NP_000124.1:p.Arg384Leu	NC_000023.10:g.138643995G>C,NC_000023.10:g.138643995G>T	OMIM Allelic Variant:300746.0112	C0008533 306900 Hereditary factor IX deficiency disease; C2749016 300807 Thrombophilia, X-linked, due to factor IX defect