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MIRAGE
autosomal recessive thrombophilia due to protein C deficiency
Summary
- Synonym
-
- THPH4
- autosomal recessive PROC deficiency
- autosomal recessive protein C deficiency
- Definition
- A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3.
- Super Class
- autosomal recessive disease protein C deficiency
External Links
- Disease Ontology
- DOID:0111904
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04070 | Vitamin K-dependent protein C |
