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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
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Accession:DOID:12971 term browser browse the term
Definition:A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. (DO)
Synonyms:exact_synonym: Debrie's familial haemolytic disease;   HS;   Minkowski Chauffard syndrome;   Minkowski-Chauffard disease;   Minkowski-Chauffard haemolytic jaundice;   Minkowski-Chauffard-Gänsslen syndrome;   acholuric jaundice;   chronic acholuric jaundice;   congenital hemolytic jaundice;   congenital spherocytic hemolytic anemia;   congenital spherocytosis;   hereditary spherocytic hemolytic anemia;   hereditary spherocytoses;   spherocytic anemia
 narrow_synonym: dominant spherocytosis;   recessive spherocytosis
 broad_synonym: SPHEROCYTOSIS
 primary_id: MESH:D013103
 alt_id: MESH:C536356
 xref: EFO:0011064;   GARD:6639;   ICD10CM:D58.0;   ICD9CM:282.0;   NCI:C97074;   ORDO:822
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO DNA:mutation:exon:p.E924X(mouse)
DNA:transition mutation:intron:
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:mutation: :
DNA:deletion:cds:
DNA:deletion mutation:exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:8640229 PMID:21193012 PMID:23934996 More... RGD:1578350, RGD:11251674, RGD:11251675, RGD:11251676, RGD:11041609, RGD:11251680, RGD:11251681 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD		 PMID:28492532 PMID:1558976 RGD:1598910 NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Klf1 KLF transcription factor 1 ISO
ISS		 DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD		 PMID:20691777 RGD:10769342 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:25741868 NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
DNA:missense mutation:cds:p.G771D (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant		 CTD
ClinVar
RGD		 PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 More... RGD:1599007, RGD:10450491, RGD:10450506, RGD:10450510 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
DNA:deletion:cds:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive		 ClinVar
RGD		 PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... RGD:11059521, RGD:11059522 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant		 CTD
ClinVar
RGD		 PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... RGD:11059526 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505 		JBrowse link
G Ank1 ankyrin 1 ISO
ISS		 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:182900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr 6:95,265,756...95,308,952
Ensembl chr 6:95,266,058...95,310,359 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar PMID:25741868 NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
OMIM:270970
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653		 CTD
ClinVar
MouseDO		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    physical disorder 5180
      congenital hemolytic anemia 364
        hereditary spherocytosis 13
          Goldstein Hutt Syndrome 0
          hereditary spherocytosis type 1 4
          hereditary spherocytosis type 2 2
          hereditary spherocytosis type 3 2
          hereditary spherocytosis type 4 1
          hereditary spherocytosis type 5 1
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            bilirubin metabolic disorder 73
              Jaundice 44
                obstructive jaundice 27
                  hereditary spherocytosis 13
                    Goldstein Hutt Syndrome 0
                    hereditary spherocytosis type 1 4
                    hereditary spherocytosis type 2 2
                    hereditary spherocytosis type 3 2
                    hereditary spherocytosis type 4 1
                    hereditary spherocytosis type 5 1
paths to the root