Thrombophilia due to histidine-rich glycoprotein deficiency

Preferred Label : Thrombophilia due to histidine-rich glycoprotein deficiency;

Symbol : THPH11;

CISMeF acronym : THPH11;

Type : Phenotype, molecular basis known;

Included titles and symbols : Thrombophilia due to elevated histidine-rich glycoprotein;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the histidine-rich glycoprotein gene (HRG, 142640.0001);

Laboratory abnormalities : Decreased levels of histidine-rich glycoprotein (HRG);

Prefixed ID : #613116;

Details

Origin ID

613116;

UMLS CUI

C2751090;

Automatic exact mappings (from CISMeF team)
- HRG wt Allele [NCIt concept]
- thrombophilia due to HRG deficiency [DO Concept]
- thrombophilia due to elevated Histidine-Rich glycoprotein [MeSH concept]
Currated CISMeF NLP mapping
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [ICD-11 More detail]
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [ORDO Disease]
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder) [SNOMED CT concept]
- histidine rich glycoprotein deficiency [Disease (Nov.)]
- thrombophilia due to Histidine-Rich glycoprotein deficiency [MeSH concept]
- thrombophilia due to elevated Histidine-Rich glycoprotein [MeSH Supplementary Concept]
DO Cross reference
- thrombophilia due to HRG deficiency [DO Concept]
Genes related to phenotype
- Histidine-rich glycoprotein [OMIM gene]
HPO term(s)
- Abnormal thrombosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypercoagulability [HPO term]
- Recurrent thromboembolism [HPO term]
ORDO concept(s)
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [ORDO Disease]
- thrombophilia due to HRG deficiency [DO Concept]
- thrombophilia due to Histidine-Rich glycoprotein deficiency [MeSH concept]

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