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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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital hemolytic anemia 133
            hereditary spherocytosis 11
              hereditary spherocytosis type 5 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            bilirubin metabolic disorder 67
              Jaundice 36
                obstructive jaundice 22
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 5 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.