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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:megaloblastic anemia
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Accession:DOID:13382 term browser browse the term
Definition:A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.
Synonyms:exact_synonym: Megaloblastic Anemias;   megaloblastic anaemia;   recessive hereditary megaloblastic anaemia 1
 narrow_synonym: MEGALOBLASTIC ANEMIA DUE TO INBORN ERRORS OF METABOLISM
 primary_id: MESH:D000749
 alt_id: RDO:0002116
 xref: ICD10CM:D53.1;   NCI:C34382
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 RGD
ClinVar		 PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:1599101
G CUBN cubilin ISO ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613 		JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310276 PMID:21310277 NCBI chr 2:89,230,660...89,255,830 JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7430361 NCBI chr  X:39,025,973...39,144,389
Ensembl chr  X:39,025,971...39,144,345 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,079...81,536,466 		JBrowse link
G TCN1 transcobalamin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4627864 NCBI chr 2:11,633,377...11,646,261
Ensembl chr 2:11,633,387...11,647,728 		JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:4627864 PMID:7849710 RGD:1580450 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,496,323...47,515,965 		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 OMIM
ClinVar		 PMID:11004530 PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 More... NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600 		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: Hereditary intrinsic factor deficiency OMIM
ClinVar		 PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 More... NCBI chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302 		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 chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675 		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: Methylcobalamin deficiency type cblE OMIM
ClinVar		 PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 More... NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802 		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:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,666...44,885,424 		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 chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,161...43,929,409 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,974 		JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,601,677...43,755,154
Ensembl chr10:43,601,674...43,755,140 		JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,946,990...44,016,064
Ensembl chr10:43,947,010...44,016,058 		JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,434,148...43,494,924
Ensembl chr10:43,434,444...43,516,094 		JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,172 		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: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More...
G CBLIF cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:		 RGD PMID:10435666 PMID:15738392 RGD:11049583 RGD:11049586 NCBI chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302 		JBrowse link
G CUBN cubilin ISO ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | 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 OMIM
ClinVar		 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613 		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 ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type OMIM
ClinVar		 PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More...
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: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency OMIM
ClinVar		 PMID:1060915 PMID:1099447 PMID:6700662 PMID:21310276 PMID:21310277 More... NCBI chr 2:89,230,660...89,255,830 JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 2:89,255,647...89,456,102
Ensembl chr 2:89,250,189...89,453,936 		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:167441 PMID:4434116 RGD:11049584 RGD:11049587 NCBI chr 2:11,655,726...11,674,357
Ensembl chr 2:11,655,767...11,674,302 		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: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive myelodysplasia OMIM
ClinVar		 PMID:9399900 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10978358 More... NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,079...81,536,466 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14311
    disease of anatomical entity 14037
      hematopoietic system disease 2468
        anemia 594
          macrocytic anemia 25
            megaloblastic anemia 20
              Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
              Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
              Folate-Responsive Megaloblastic Anemia 1
              Imerslund-Grasbeck Syndrome + 11
              Lubani Al Saleh Teebi Syndrome 0
              Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency 2
              homocystinuria-megaloblastic anemia cblE type 1
              pernicious anemia + 1
              thiamine-responsive megaloblastic anemia syndrome 1
Path 2
Term Annotations click to browse term
  disease 14311
    disease of anatomical entity 14037
      Hemic and Lymphatic Diseases 2871
        hematopoietic system disease 2468
          anemia 594
            macrocytic anemia 25
              megaloblastic anemia 20
                Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
                Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
                Folate-Responsive Megaloblastic Anemia 1
                Imerslund-Grasbeck Syndrome + 11
                Lubani Al Saleh Teebi Syndrome 0
                Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency 2
                homocystinuria-megaloblastic anemia cblE type 1
                pernicious anemia + 1
                thiamine-responsive megaloblastic anemia syndrome 1
paths to the root