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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:11776305, 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 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        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 16096
    disease of anatomical entity 15346
      Hemic and Lymphatic Diseases 2046
        hematopoietic system disease 1641
          blood coagulation disease 623
            thrombophilia 39
              protein S deficiency 5
                autosomal recessive thrombophilia due to protein S deficiency 3
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.