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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 SPTA1 on chromosome 1q23.1. (DO)
Synonyms:exact_synonym: HS3;   SPH3;   SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE;   Spherocytosis, Type 3;   hereditary spherocytosis 3
 primary_id: MESH:C567489
 alt_id: OMIM:270970;   RDO:0015550
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary spherocytosis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by OMIM:270970
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
OMIM
ClinVar
PMID:1638030, PMID:3785322, PMID:8081008, PMID:8370581, PMID:8941647, PMID:15071791, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          congenital hemolytic anemia 133
            hereditary spherocytosis 11
              hereditary spherocytosis type 3 2
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            bilirubin metabolic disorder 67
              Jaundice 36
                obstructive jaundice 22
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 3 2
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.