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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:macrocytic anemia
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Accession:DOID:2361 term browser browse the term
Definition:Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Synonyms:exact_synonym: macrocytic anaemia;   macrocytic anemias
 primary_id: MESH:D000748
 xref: NCI:C34381
For additional species annotation, visit the Alliance of Genome Resources.



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macrocytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISS MouseDO NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Macrocytic anemia ClinVar PMID:25741868 PMID:28099038 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
chromosome 5q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Rps14 ribosomal protein S14 ISO OMIM NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166
JBrowse link
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
ClinVar Annotator: match by term: METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
ClinVar
OMIM
PMID:11004530 PMID:21813566 PMID:23296427 PMID:23402911 PMID:25548164 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
congenital intrinsic factor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Congenital intrinsic factor deficiency
ClinVar Annotator: match by term: Intrinsic factor deficiency
ClinVar Annotator: match by OMIM:261000
DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human)
OMIM
ClinVar
RGD
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 More... RGD:11049582 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link
Folate-Responsive Megaloblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a1 solute carrier family 19 member 1 ISO OMIM NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar
OMIM
RGD
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... RGD:61796 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE
ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2
ClinVar
OMIM
RGD
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
megaloblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein susceptibility ISO ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism ClinVar
RGD
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:1599101 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
G Cubn cubilin ISO
ISS
ClinVar Annotator: match by term: Megaloblastic anemia
ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism
OMIM:261100 | OMIM:613839
ClinVar
MouseDO
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310276 PMID:21310277 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7430361 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:4627864 PMID:7849710 RGD:1580450 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Megaloblastic anemia ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
JBrowse link
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency
ClinVar Annotator: match by OMIM:613839
DNA:mutation:c.458A>T(human)
OMIM
ClinVar
RGD
PMID:1060915 PMID:1099447 PMID:6700662 PMID:21310276 PMID:21310277 More... RGD:11039540 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:23,444,326...23,585,777 JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis
ClinVar Annotator: match by term: Stomatocytosis I
OMIM
ClinVar
PMID:1174702 PMID:2765409 PMID:2917122 PMID:13762977 PMID:18931342 More... NCBI chr 9:20,069,800...20,097,836
Ensembl chr 9:20,069,807...20,097,836
JBrowse link
pernicious anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cblif cobalamin binding intrinsic factor ISO RGD PMID:4434116 PMID:167441 RGD:11049584, RGD:11049587 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE)
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
ClinVar Annotator: match by OMIM:249270
OMIM
ClinVar
PMID:9399900 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10978358 More... NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      hematopoietic system disease 1913
        anemia 431
          macrocytic anemia 18
            chromosome 5q deletion syndrome 2
            megaloblastic anemia + 12
            overhydrated hereditary stomatocytosis 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          anemia 431
            macrocytic anemia 18
              chromosome 5q deletion syndrome 2
              megaloblastic anemia + 12
              overhydrated hereditary stomatocytosis 1
paths to the root