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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 2
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Accession:DOID:0110917 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3. (DO)
Synonyms:exact_synonym: HS2;   SPH2;   Spherocytosis, Type 2
 related_synonym: Spectrin durham;   Spectrin kissimmee;   Spectrin s-ta barbara;   hereditary spherocytosis 2
 primary_id: OMIM:616649
 alt_id: RDO:9000714
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spherocytosis type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin durham
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar
OMIM
PMID:1385736 PMID:3654760 PMID:6215583 PMID:7883966 PMID:8102379 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital hemolytic anemia 156
        hereditary spherocytosis 11
          hereditary spherocytosis type 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            bilirubin metabolic disorder 70
              Jaundice 38
                obstructive jaundice 24
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 2 1
paths to the root