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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 5
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Accession:DOID:0110920 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2. (DO)
Synonyms:exact_synonym: HS5;   SPH5;   hereditary spherocytosis 5;   spherocytosis type 5
 primary_id: MESH:C567202
 alt_id: OMIM:612690;   RDO:0015343
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spherocytosis type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by OMIM:612690
ClinVar Annotator: match by term: Spherocytosis type 5
OMIM
ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:10406914 PMID:12176912 PMID:19508687 PMID:25741868 PMID:28492532 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital hemolytic anemia 137
        hereditary spherocytosis 11
          hereditary spherocytosis type 5 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            bilirubin metabolic disorder 67
              Jaundice 38
                obstructive jaundice 24
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 5 1
paths to the root