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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: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:1845156, 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:8081008, PMID:8434258, PMID:8435324, PMID:8444470, PMID:8490186, PMID:15071791, PMID:16150946, PMID:18218854, PMID:18783249, PMID:19593814, PMID:21212007, PMID:23241237, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, 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
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: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: Ovalocytosis, southeast Asian
ClinVar Annotator: match by term: HE, STOMATOCYTIC
OMIM
ClinVar
PMID:1378323, PMID:1737855, PMID:2146504, PMID:7689982, PMID:7919393, PMID:7949112, PMID:8434259, PMID:9312167, PMID:10403343, PMID:14618420, PMID:19229254, PMID:25741868, PMID:1722314 RGD:10450479 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
Pyropoikilocytosis, Hereditary 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:1679439, PMID:1845156, PMID:2043465, PMID:2328319, PMID:2346729, PMID:2568862, PMID:3708157, PMID:3785322, PMID:4077050, PMID:6236232, PMID:7074218, PMID:8081008, PMID:8370581, PMID:8435324, PMID:8444470, PMID:9192783, PMID:9746802, PMID:15071791, PMID:16150946, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, 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 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      hematopoietic system disease 1641
        hereditary elliptocytosis 9
          AMME complex 1
          Elliptocytosis 1 1
          Elliptocytosis 2 2
          Elliptocytosis 3 1
          Elliptocytosis, Atypical 0
          Glyoxalase II Deficiency 0
          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 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          anemia 405
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 133
                  hereditary elliptocytosis 9
                    AMME complex 1
                    Elliptocytosis 1 1
                    Elliptocytosis 2 2
                    Elliptocytosis 3 1
                    Elliptocytosis, Atypical 0
                    Glyoxalase II Deficiency 0
                    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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.