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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autosomal recessive thrombophilia due to protein C deficiency
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Accession:DOID:0111904 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive;   PROC deficiency, autosomal recessive;   THPH4;   protein C deficiency, autosomal recessive
 primary_id: MESH:C567353
 alt_id: OMIM:612304


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      hematopoietic system disease 3272
        blood protein disease 599
          protein C deficiency 16
            Congenital Thrombotic Disease, due to Protein C Deficiency 15
              autosomal recessive thrombophilia due to protein C deficiency 1
Path 2
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17780
        genetic disease 17754
          monogenic disease 10359
            autosomal genetic disease 9532
              autosomal dominant disease 6265
                protein C deficiency 16
                  Congenital Thrombotic Disease, due to Protein C Deficiency 15
                    autosomal recessive thrombophilia due to protein C deficiency 1
paths to the root