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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 S deficiency
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Accession:DOID:0111905 term browser browse the term
Definition:A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in PROS1 on chromosome 3q11.1. (DO)
Synonyms:exact_synonym: Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive;   THPH6;   autosomal recessive thrombophilia due to congenital protein S deficiency;   severe hereditary thrombophilia due to congenital protein S deficiency
 broad_synonym: reduced protein S activity
 primary_id: MESH:C567348
 alt_id: OMIM:614514
 xref: ORDO:743
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive 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: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:28492532 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:614514
OMIM
ClinVar
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2526663 PMID:7579448 PMID:7579449 PMID:7803790 PMID:8298131 PMID:8765219 PMID:8841302 PMID:8943854 PMID:9241758 PMID:10063989 PMID:10456456 PMID:10613646 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11776305 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16461766 PMID:16961607 PMID:16961608 PMID:17157360 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20484936 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22261441 PMID:22273984 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30669159 PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:28492532 NCBI chr 7:1,145,002...1,149,978 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      hematopoietic system disease 1639
        blood coagulation disease 623
          protein S deficiency 5
            autosomal recessive thrombophilia due to protein S deficiency 3
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2056
        hematopoietic system disease 1639
          blood coagulation disease 623
            thrombophilia 39
              protein S deficiency 5
                autosomal recessive thrombophilia due to protein S deficiency 3
paths to the root