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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
factor VII deficiency
Summary
- Synonym
-
- deficiency, stable
- Definition
- A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.
- Super Class
- autosomal recessive disease blood coagulation disease
External Links
- Disease Ontology
- DOID:2215
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11498 | Pyruvate carboxylase, mitochondrial | |
| P49257 | Protein ERGIC-53 | |
| Q8NI22 | Multiple coagulation factor deficiency protein 2 | |
| Q96IV0 | Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase |
