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DO Term : heparin cofactor II deficiency [DOID:0111901] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.

synonyms:
HCF II deficiency,
OMIM:612356,
UMLS_CUI:C0398626,
thrombophilia due to heparin cofactor II deficiency,
HCF 2 deficiency,
THPH10,
612356,
MESH:C562865,
SNOMEDCT_US_2023_03_01:234468009

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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