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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 PROC 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:612304
ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
OMIM
ClinVar
PMID:1347608, PMID:1347706, PMID:1348046, PMID:1511988, PMID:1593215, PMID:1678832, PMID:1868249, PMID:3185623, PMID:7482420, PMID:8128429, PMID:8165644, PMID:10805275, PMID:10942114, PMID:17152060, PMID:18573519, PMID:18954896, PMID:19535131, PMID:20815936, PMID:21621249, PMID:21901152, PMID:24162787, PMID:25637381, PMID:25741868, PMID:28111891, PMID:28492532, PMID:28607330, PMID:31064749 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        blood protein disease 288
          protein C deficiency 2
            Congenital Thrombotic Disease, due to Protein C Deficiency 1
              autosomal recessive thrombophilia due to protein C deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                protein C deficiency 2
                  Congenital Thrombotic Disease, due to Protein C Deficiency 1
                    autosomal recessive thrombophilia due to protein C deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.