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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 elliptocytosis
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Accession:DOID:2373 term browser browse the term
Definition:A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. (DO)
Synonyms:exact_synonym: Hereditary Elliptocytoses;   Hereditary Ovalocytoses;   Hereditary Ovalocytosis;   congenital elliptocytosis;   hereditary stomatocytic elliptocytosis;   ovalocytosis
 broad_synonym: ELLIPTOCYTOSIS
 primary_id: MESH:D004612
 xref: GARD:6621;   ICD10CM:D58.1;   ICD9CM:282.1;   NCI:C35882;   ORDO:288
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
hereditary elliptocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB41 erythrocyte membrane protein band 4.1 ISO ClinVar Annotator: match by term: Hereditary elliptocytosis ClinVar NCBI chr20:103,704,322...103,928,004
Ensembl chr20:103,699,694...103,927,730 		JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 NCBI chr20:5,316,506...5,318,741 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary 		ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 NCBI chr24:41,957,438...42,038,522
Ensembl chr24:41,978,595...42,038,516 		JBrowse link
Elliptocytosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB41 erythrocyte membrane protein band 4.1 ISO ClinVar Annotator: match by term: Elliptocytosis 1 OMIM
ClinVar		 PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 More... NCBI chr20:103,704,322...103,928,004
Ensembl chr20:103,699,694...103,927,730 		JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name 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: Elliptocytosis 2 ClinVar PMID:25741868 NCBI chr20:5,316,506...5,318,741 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2 OMIM
ClinVar		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887 		JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:7883966 PMID:8667615 PMID:8844207 More... NCBI chr24:41,957,438...42,038,522
Ensembl chr24:41,978,595...42,038,516 		JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAGH hydroxyacylglutathione hydrolase ISO OMIM NCBI chr 5:1,705,436...1,730,896
Ensembl chr 5:1,713,542...1,730,797 		JBrowse link
hereditary pyropoikilocytosis term browser
Symbol Object Name 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: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 NCBI chr20:5,316,506...5,318,741 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary OMIM
ClinVar		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr20:5,238,246...5,314,204
Ensembl chr20:5,238,447...5,313,887 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr24:41,957,438...42,038,522
Ensembl chr24:41,978,595...42,038,516 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:98,030,337...98,163,146 JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:98,255,023...98,296,832
Ensembl chr  X:98,290,677...98,296,673 		JBrowse link
G TMEM164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:97,833,179...98,007,700
Ensembl chr  X:97,833,496...98,003,343 		JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr16:62,126,370...62,146,192
Ensembl chr16:62,131,709...62,146,182 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15628
    physical disorder 5136
      congenital hemolytic anemia 349
        hereditary elliptocytosis 9
          AMME complex 0
          Elliptocytosis 1 1
          Elliptocytosis 2 2
          Elliptocytosis 3 1
          Elliptocytosis, Atypical 0
          Glyoxalase II Deficiency 1
          Ovalocytosis, Hereditary Hemolytic 0
          Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis 0
          Ovalocytosis, Malaysian-Melanesian-Filipino Type 1
          hereditary pyropoikilocytosis 3
          midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
Path 2
Term Annotations click to browse term
  disease 15628
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 4156
        hematopoietic system disease 3695
          anemia 834
            normocytic anemia 732
              hemolytic anemia 418
                congenital hemolytic anemia 349
                  hereditary elliptocytosis 9
                    AMME complex 0
                    Elliptocytosis 1 1
                    Elliptocytosis 2 2
                    Elliptocytosis 3 1
                    Elliptocytosis, Atypical 0
                    Glyoxalase II Deficiency 1
                    Ovalocytosis, Hereditary Hemolytic 0
                    Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis 0
                    Ovalocytosis, Malaysian-Melanesian-Filipino Type 1
                    hereditary pyropoikilocytosis 3
                    midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
paths to the root