Search Ontology:
Human Disease
autosomal recessive thrombophilia due to protein C deficiency
- Term ID
- DOID:0111904
- Synonyms
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- autosomal recessive PROC deficiency
- autosomal recessive protein C deficiency
- THPH4
- 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. (2)
- References
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- MESH:C567353
- MIM:612304
- UMLS_CUI:C2676759
- Ontology
- Human Disease ( DOID:0111904 )
- is a type of
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Genes Involved
Zebrafish Models