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

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:hereditary spherocytosis type 2
go back to main search page
Accession:DOID:0110917 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. (DO)
Synonyms:exact_synonym: HS2;   SPH2;   Spherocytosis, Type 2
 broad_synonym: SPTB-RELATED CONDITION
 related_synonym: Spectrin durham;   Spectrin kissimmee;   Spectrin s-ta barbara;   hereditary spherocytosis 2
 primary_id: OMIM:616649


show annotations for term's descendants           Sort by:
hereditary spherocytosis type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr 7:88,764,476...88,810,996
Ensembl chr 7:88,764,471...88,810,994 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr 7:88,812,717...88,954,471
Ensembl chr 7:88,812,718...88,954,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      congenital hemolytic anemia 332
        hereditary spherocytosis 13
          hereditary spherocytosis type 2 2
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      gastrointestinal system disease 6424
        hepatobiliary disease 2862
          biliary tract disease 511
            bile duct disease 467
              cholestasis 327
                obstructive jaundice 27
                  hereditary spherocytosis 13
                    hereditary spherocytosis type 2 2
paths to the root