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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: MIM:612304


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autosomal recessive thrombophilia due to protein C deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive OMIM
ClinVar		 PMID:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 More... NCBI chr18:24,038,596...24,049,061
Ensembl chr18:24,038,597...24,048,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      hematopoietic system disease 3839
        blood protein disease 699
          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 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                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