Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 the PROS1 gene 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: HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY;   PROS1-related condition;   reduced protein S activity
 xref: MESH:C567348;   MIM:614514;   MONDO:0013791;   ORDO:743


show annotations for term's descendants           Sort by:
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 ARF like GTPase 13B ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:13,597,538...13,663,681
Ensembl chr11:13,597,538...13,663,546 		JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:50,960,187...51,062,366
Ensembl chr11:50,960,192...51,045,220 		JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive 		OMIM
CTD
ClinVar		 PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 More... NCBI chr11:13,676,310...13,757,858
Ensembl chr11:13,676,769...13,757,852 		JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:13,619,436...13,624,634
Ensembl chr11:13,593,134...13,629,410 		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 S deficiency 5
            autosomal recessive thrombophilia due to protein S deficiency 4
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 recessive disease 7090
                autosomal recessive thrombophilia due to protein S deficiency 4
paths to the root