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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 dominant thrombophilia due to protein S deficiency
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Accession:DOID:0111900 term browser browse the term
Definition:A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in PROS1 on chromosome 3q11.1. (DO)
Synonyms:exact_synonym: THPH5;   hereditary thrombophilia due to protein S deficiency, autosomal dominant
 broad_synonym: REDUCED PROTEIN S ACTIVITY
 primary_id: MESH:C567347
 alt_id: OMIM:612336
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
autosomal dominant thrombophilia due to protein S deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr11:37,490,832...37,575,607 JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant
ClinVar Annotator: match by term: Reduced protein S activity
OMIM
ClinVar
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Reduced protein S activity ClinVar PMID:32581362 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      hematopoietic system disease 1913
        blood protein disease 389
          protein S deficiency 5
            autosomal dominant thrombophilia due to protein S deficiency 4
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                autosomal dominant thrombophilia due to protein S deficiency 4
paths to the root