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 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:hereditary spherocytosis type 3
go back to main search page
Accession:DOID:0110918 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. (DO)
Synonyms:exact_synonym: HS3;   SPH3;   hereditary spherocytosis 3;   spherocytosis type 3;   spherocytosis type 3, autosomal recessive
 xref: MESH:C567489;   MIM:270970;   MONDO:0010053


show annotations for term's descendants           Sort by:
hereditary spherocytosis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100154445 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar PMID:25741868 NCBI chr 4:91,643,676...91,644,614
Ensembl chr 4:91,643,676...91,644,614 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis type 3 OMIM
ClinVar		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr 4:91,573,470...91,640,057
Ensembl chr 4:91,485,067...91,640,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    physical disorder 5067
      congenital hemolytic anemia 351
        hereditary spherocytosis 14
          hereditary spherocytosis type 3 2
Path 2
Term Annotations click to browse term
  disease 15426
    disease of anatomical entity 15095
      gastrointestinal system disease 6558
        hepatobiliary disease 2910
          biliary tract disease 516
            bile duct disease 472
              cholestasis 334
                obstructive jaundice 28
                  hereditary spherocytosis 14
                    hereditary spherocytosis type 3 2
paths to the root