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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 NCBI chr 8:70,800,435...70,807,835 JBrowse link
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 chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310276 PMID:21310277 NCBI chr 3:26,521,214...26,556,065 JBrowse link
G MAOB monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7430361 NCBI chr  X:37,765,810...37,883,955
Ensembl chr  X:37,765,813...37,883,955
JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249
JBrowse link
G TCN1 transcobalamin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4627864 NCBI chr21:50,356,333...50,369,215
Ensembl chr21:50,356,340...50,369,181
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:4627864 PMID:7849710 RGD:1580450 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
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 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453
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 chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
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 chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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 chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
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... NCBI chr 8:70,800,435...70,807,835 JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286
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 chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647
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 chr 2:19,392,690...19,618,127
Ensembl chr 2:19,482,468...19,616,339
JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,264,392...19,344,187
Ensembl chr 2:19,266,055...19,344,045
JBrowse link
G TRAF3 TNF receptor associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645
JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,702,561...19,763,744
Ensembl chr 2:19,677,444...19,763,741
JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
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 IAGP
ISO
Intestinal cobalamin malabsorption, AMN-related
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
OMIA
ClinVar
PMID:1848001 PMID:1941244 PMID:1999430 PMID:6741523 PMID:11023127 More... NCBI chr 8:70,800,435...70,807,835 JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO protein:increased excretion:urine:
DNA:polymorphisms, missense mutations, splice sites:exon,intron:
RGD PMID:10435666 PMID:15738392 RGD:11049583 RGD:11049586 NCBI chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
JBrowse link
G CUBN cubilin ISO
IAGP
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
Intestinal cobalamin malabsorption, CUBN-related
OMIM
ClinVar
OMIA
PMID:1848001 PMID:1941244 PMID:1999430 PMID:9536098 PMID:10080186 More... NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839
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... NCBI chr 8:70,800,435...70,807,835 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: 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 3:26,521,214...26,556,065 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 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521
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 chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
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 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14316
      hematopoietic system disease 2518
        anemia 609
          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 14631
    disease of anatomical entity 14316
      Hemic and Lymphatic Diseases 2932
        hematopoietic system disease 2518
          anemia 609
            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