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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 the ANK1 gene on chromosome 8p11.21. (DO)
Synonyms:exact_synonym: ANK1-RELATED CONDITION;   HS1;   SPH;   SPH1;   hereditary spherocytosis 1;   spherocytosis type 1, autosomal recessive
 primary_id: MESH:C567159
 alt_id: MIM:182900


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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 4:120,001,977...120,101,090
Ensembl chr 4:120,002,054...120,101,091 		JBrowse link
G Ank1 ankyrin 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:182900
ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE 		OMIM
CTD
MouseDO
ClinVar		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr16:75,578,824...75,757,464
Ensembl chr16:75,578,824...75,757,464 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:128,433,460...128,451,683
Ensembl chr 3:128,433,464...128,451,683 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:88,735,833...88,811,697
Ensembl chr13:88,735,833...88,811,697 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital hemolytic anemia 365
        hereditary spherocytosis 14
          hereditary spherocytosis type 1 4
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            bilirubin metabolic disorder 79
              Jaundice 50
                obstructive jaundice 28
                  hereditary spherocytosis 14
                    hereditary spherocytosis type 1 4
paths to the root