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 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   new 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

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
go back to main search page
Accession:EFO:MONDO:0012465 term browser browse the term
Definition:The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
Synonyms:exact_synonym: PIGM-CDG
 related_synonym: GPI deficiency;   GPID;   congenital disorder of glycosylation due to PIGM deficiency;   glycosylphosphatidylinositol biosynthesis defect 1;   glycosylphosphatidylinositol deficiency
 alt_id: MONDO:0012465
 xref: GARD:9965;   MEDGEN:1684821;   MIM:610293;   NANDO:1200983;   ORDO:83639;   SCTID:724344004;   UMLS:C5201145
 see_also: https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency" xsd:anyURI {source="GARD:0009965


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inherited blood coagulation disorder 0
              hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            inborn errors of metabolism 0
              congenital disorder of glycosylation 0
                inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 0
                  hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 0
paths to the root