Details of Disease

General Information of Disease (ID: DIS0AUHL)

Disease Name Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Synonyms
THPH11; thrombophilia due to elevated histidine-rich glycoprotein; thrombophilia due to histidine-rich glycoprotein deficiency; thrombophilia 11 due to HRG deficiency; hereditary thrombophilia due to congenital HRG deficiency
Disease Hierarchy
DISKV001: Osteonecrosis of genetic origin
DISH7JDC: Secondary avascular necrosis
DISFG8KS: Inherited thrombophilia
DIS0AUHL: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Disease Identifiers
MONDO ID
MONDO_0013143
MESH ID
C567737
UMLS CUI
C2751090
OMIM ID
613116
MedGen ID
416465
Orphanet ID
217467

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HRG OTPLUFOG Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.