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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 1
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Accession:DOID:0110916 term browser browse the term
Definition:A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21. (DO)
Synonyms:exact_synonym: HS1;   SPH;   SPH1;   hereditary spherocytosis 1;   spherocytosis type 1, autosomal recessive
 primary_id: MESH:C567159
 alt_id: OMIM:182900
For additional species annotation, visit the Alliance of Genome Resources.

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hereditary spherocytosis type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464 		JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by OMIM:182900
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1		 OMIM
ClinVar		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 PMID:11167760 PMID:12899723 PMID:15071790 PMID:16037067 PMID:17327413 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO 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 16122
    physical disorder 2480
      congenital hemolytic anemia 136
        hereditary spherocytosis 11
          hereditary spherocytosis type 1 4
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      gastrointestinal system disease 4694
        hepatobiliary disease 2512
          biliary tract disease 443
            bile duct disease 413
              cholestasis 315
                obstructive jaundice 24
                  hereditary spherocytosis 11
                    hereditary spherocytosis type 1 4
paths to the root