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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:An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.
Synonyms:exact_synonym: Hereditary Elliptocytoses;   Hereditary Ovalocytoses;   Hereditary Ovalocytosis;   Stomatocytic Elliptocytosis, Hereditary;   congenital elliptocytosis;   ovalocytosis
 primary_id: MESH:D004612
 alt_id: RDO:0005452
 xref: GARD:6621;   ICD10CM:D58.1;   ICD9CM:282.1;   NCI:C35882;   ORDO:288
For additional species annotation, visit the Alliance of Genome Resources.


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
ISS
ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases
ClinVar
MouseDO
PMID:17994571 RGD:11252097 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD
ClinVar
PMID:1737855 PMID:9312167 PMID:25741868 PMID:33532864, PMID:7742553 RGD:13208947 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS
DNA:insertion:intron:
ClinVar Annotator: match by term: Ovalocytosis
OMIM:130600 | OMIM:611804
ClinVar Annotator: match by term: Hereditary elliptocytosis
ClinVar
MouseDO
PMID:28492532, PMID:11154235 RGD:11059523 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Hereditary elliptocytosis
CTD
ClinVar
PMID:1975598 PMID:19538529 PMID:25741868 PMID:28492532 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
AMME complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
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
ClinVar Annotator: match by term: PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
ClinVar Annotator: match by OMIM:611804
OMIM
ClinVar
PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 PMID:3722387 PMID:3965051 PMID:6894932 PMID:7255153 PMID:7627190 PMID:8423235 PMID:25741868 PMID:28492532 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
Elliptocytosis 2 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: Elliptocytosis 2 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: Elliptocytosis 2
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
ClinVar Annotator: match by OMIM:130600
OMIM
ClinVar
PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 PMID:1845156 PMID:1878597 PMID:2043465 PMID:2328319 PMID:2346729 PMID:2384601 PMID:2567189 PMID:2568861 PMID:2794061 PMID:2895677 PMID:3597773 PMID:3708157 PMID:3922449 PMID:4077050 PMID:7074218 PMID:8068958 PMID:8081008 PMID:8434258 PMID:8435324 PMID:8444470 PMID:8490186 PMID:8790144 PMID:8857939 PMID:15071791 PMID:16150946 PMID:16730867 PMID:18218854 PMID:18783249 PMID:18815189 PMID:19593814 PMID:20197550 PMID:21212007 PMID:23241237 PMID:23974198 PMID:25741868 PMID:26002053 PMID:27667160 PMID:28090778 PMID:28492532 PMID:29729090 PMID:31286676 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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 null
ClinVar Annotator: match by term: Elliptocytosis 3
ClinVar Annotator: match by term: Spectrin providence
ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
ClinVar Annotator: match by term: Spectrin rouen
ClinVar
OMIM
PMID:1391962 PMID:2056132 PMID:7883966 PMID:8844207 PMID:9075575 PMID:9163587 PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hagh hydroxyacyl glutathione hydrolase ISO OMIM NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
Hereditary Pyropoikilocytosis 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: Hereditary pyropoikilocytosis 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: Hereditary pyropoikilocytosis
ClinVar Annotator: match by OMIM:266140
OMIM
ClinVar
PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 PMID:1845156 PMID:2043465 PMID:2328319 PMID:2346729 PMID:2567189 PMID:2568862 PMID:2794061 PMID:3597773 PMID:3708157 PMID:3785322 PMID:3922449 PMID:4077050 PMID:6236232 PMID:7074218 PMID:8068958 PMID:8081008 PMID:8370581 PMID:8434258 PMID:8435324 PMID:8444470 PMID:8790144 PMID:8857939 PMID:9192783 PMID:9746802 PMID:15071791 PMID:16150946 PMID:16730867 PMID:18218854 PMID:18815189 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27667160 PMID:28090778 PMID:28298237 PMID:28492532 PMID:29729090 PMID:31286676 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
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: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar
OMIM
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:29174631 NCBI chr  X:114,129,829...114,233,013
Ensembl chr  X:114,131,898...114,232,939
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:114,367,028...114,379,646
Ensembl chr  X:114,373,907...114,378,622
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:113,947,355...114,110,064
Ensembl chr  X:113,948,654...114,110,062
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 DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human)
ClinVar Annotator: match by term: HE, STOMATOCYTIC
ClinVar Annotator: match by term: Ovalocytosis, southeast Asian
OMIM
ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 PMID:7689982 PMID:7919393 PMID:7949112 PMID:8434259 PMID:9312167 PMID:10403343 PMID:14618420 PMID:16107207 PMID:19229254 PMID:20421175 PMID:24652967 PMID:25741868 PMID:28188436 PMID:28492532 PMID:33532864, PMID:1722314 RGD:10450479 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      hematopoietic system disease 1799
        hereditary elliptocytosis 10
          AMME complex 1
          Elliptocytosis 1 1
          Elliptocytosis 2 2
          Elliptocytosis 3 1
          Elliptocytosis, Atypical 0
          Glyoxalase II Deficiency 1
          Hereditary Pyropoikilocytosis 3
          Ovalocytosis, Hereditary Hemolytic 0
          Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis 0
          Ovalocytosis, Malaysian-Melanesian-Filipino Type 1
          midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      Hemic and Lymphatic Diseases 2220
        hematopoietic system disease 1799
          anemia 427
            normocytic anemia 200
              hemolytic anemia 200
                congenital hemolytic anemia 153
                  hereditary elliptocytosis 10
                    AMME complex 1
                    Elliptocytosis 1 1
                    Elliptocytosis 2 2
                    Elliptocytosis 3 1
                    Elliptocytosis, Atypical 0
                    Glyoxalase II Deficiency 1
                    Hereditary Pyropoikilocytosis 3
                    Ovalocytosis, Hereditary Hemolytic 0
                    Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis 0
                    Ovalocytosis, Malaysian-Melanesian-Filipino Type 1
                    midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
paths to the root