Thrombophilia, X-linked, due to factor ix defect

Preferred Label : Thrombophilia, X-linked, due to factor ix defect;

Symbol : THPH8;

CISMeF acronym : THPH8;

Type : Phenotype, molecular basis known;

Included titles and symbols : Deep venous thrombosis, protection against;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the coagulation factor IX gene (F9, 300746.0112);

Laboratory abnormalities : Increased factor IX activity;

Prefixed ID : #300807;

Details

Origin ID

300807;

UMLS CUI

C2749016;

Automatic exact mappings (from CISMeF team)
- F9 wt Allele [NCIt concept]
- X-linked thrombophilia due to factor IX defect [DO Concept]
Currated CISMeF NLP mapping
- thrombophilia, X-Linked, due to factor ix defect [MeSH concept]
- thrombophilia, X-Linked, due to factor ix defect [MeSH Supplementary Concept]
DO Cross reference
- X-linked thrombophilia due to factor IX defect [DO Concept]
Genes related to phenotype
- Coagulation factor ix [OMIM gene]
HPO term(s)
- Deep venous thrombosis [HPO term]
- Hypercoagulability [HPO term]
- Increased factor IX activity [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked thrombophilia due to factor IX defect [DO Concept]
- thrombophilia, X-Linked, due to factor ix defect [MeSH Supplementary Concept]
- thrombophilia, X-Linked, due to factor ix defect [MeSH concept]

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