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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, PMID:8844207, PMID:9414314, PMID:9714702, PMID:11703334, PMID:19538529, PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          congenital hemolytic anemia 134
            hereditary spherocytosis 11
              hereditary spherocytosis type 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          inherited metabolic disorder 2232
            bilirubin metabolic disorder 66
              Jaundice 36
                obstructive jaundice 22
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.