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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:hereditary spherocytosis type 3
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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
 primary_id: MESH:C567489
 alt_id: OMIM:270970


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hereditary spherocytosis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:270970
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive		 OMIM
CTD
MouseDO
ClinVar		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital hemolytic anemia 347
        hereditary spherocytosis 13
          hereditary spherocytosis type 3 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        hepatobiliary disease 3066
          biliary tract disease 541
            bile duct disease 497
              cholestasis 343
                obstructive jaundice 27
                  hereditary spherocytosis 13
                    hereditary spherocytosis type 3 2
paths to the root