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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:congenital nonspherocytic hemolytic anemia
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Accession:DOID:2861 term browser browse the term
Definition:Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Synonyms:exact_synonym: CNSHA;   HNSHA;   chronic nonspherocytic hemolytic anemia;   congenital nonspherocytic hemolytic anaemia;   hereditary nonspherocytic hemolytic anaemia;   hereditary nonspherocytic hemolytic anemia
 related_synonym: hemoglobin Manukau
 xref: EFO:1000641;   MESH:D000746;   MIM:PS300908;   MONDO:0006506;   ORDO:712
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital nonspherocytic hemolytic anemia ClinVar PMID:1303182 PMID:5673160 PMID:6714978 PMID:15315792 PMID:15996881 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO DNA:mutations:cds:
DNA:point_mutation:CDS:1648A>G amino acid K550E
OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 		RGD
MouseDO		 PMID:8417789 PMID:9446754 PMID:17041899 RGD:11051849 RGD:11051955 RGD:1600633 NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:44,038,357...44,069,328 		JBrowse link
G HK1 hexokinase 1 ISO DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte 		RGD PMID:7655856 PMID:11783948 RGD:11353878 RGD:1601519 NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr18:40,440,890...40,483,043
Ensembl chr18:40,441,171...40,483,376 		JBrowse link
G PKLR pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
DNA:missense mutation:cds:p.R479H (human) 		RGD PMID:1536957 PMID:7949104 PMID:8161798 PMID:11054094 RGD:11535979 RGD:11535981 RGD:11535983 RGD:11535987 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134 		JBrowse link
congenital nonspherocytic hemolytic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 | ClinVar Annotator: match by term: G6PD-related disorder OMIM
ClinVar		 PMID:5448 PMID:16832 PMID:736032 PMID:848857 PMID:853376 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
congenital nonspherocytic hemolytic anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase ISO ClinVar Annotator: match by term: GSR-related condition | ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency OMIM
ClinVar		 PMID:435643 PMID:947404 PMID:17185460 PMID:25741868 PMID:28492532 More... NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
congenital nonspherocytic hemolytic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells OMIM
ClinVar		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 More... NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
congenital nonspherocytic hemolytic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK1 adenylate kinase 1 ISO OMIM NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598 		JBrowse link
congenital nonspherocytic hemolytic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPI glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4 | ClinVar Annotator: match by term: GPI-related condition OMIM
ClinVar		 PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 More... NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:44,038,357...44,069,328 		JBrowse link
congenital nonspherocytic hemolytic anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HK1 hexokinase 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5 OMIM
ClinVar		 PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 More... NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924 		JBrowse link
congenital nonspherocytic hemolytic anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSS glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria OMIM
ClinVar		 PMID:5476481 PMID:8896573 PMID:9215686 PMID:10369661 PMID:10861239 More... NCBI chr17:38,316,199...38,342,253
Ensembl chr17:38,312,720...38,342,298 		JBrowse link
congenital nonspherocytic hemolytic anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCLC glutamate-cysteine ligase catalytic subunit ISO ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency ClinVar
OMIM		 PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,565...27,253,530 		JBrowse link
congenital nonspherocytic hemolytic anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO ClinVar Annotator: match by term: UMPH1 DEFICIENCY OMIM
ClinVar		 PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 More... NCBI chr18:40,440,890...40,483,043
Ensembl chr18:40,441,171...40,483,376 		JBrowse link
congenital nonspherocytic hemolytic anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9 OMIM
ClinVar		 PMID:3164080 PMID:25741868 PMID:28492532 PMID:35030251 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES 		ClinVar PMID:5448 PMID:16832 PMID:472761 PMID:511159 PMID:736032 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: G6PD A- ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984 		JBrowse link
G LOC110259958 hemoglobin subunit alpha ISO ClinVar Annotator: match by term: Heinz body anemia OMIM
ClinVar		 PMID:2833478 PMID:6725558 PMID:6882779 PMID:7470621 PMID:7786798 More... NCBI chr 3:41,482,353...41,483,564 JBrowse link
triosephosphate isomerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Triosephosphate isomerase deficiency OMIM
ClinVar		 PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 More... NCBI chr 5:63,839,473...63,842,853
Ensembl chr 5:63,838,506...63,843,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10974
    physical disorder 2361
      congenital hemolytic anemia 161
        congenital nonspherocytic hemolytic anemia 13
          Anemia Due To Adenosine Triphosphatase Deficiency 0
          Heinz body anemia 2
          Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
          Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane 0
          Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism 0
          congenital nonspherocytic hemolytic anemia 1 1
          congenital nonspherocytic hemolytic anemia 10 1
          congenital nonspherocytic hemolytic anemia 2 1
          congenital nonspherocytic hemolytic anemia 3 1
          congenital nonspherocytic hemolytic anemia 4 1
          congenital nonspherocytic hemolytic anemia 5 1
          congenital nonspherocytic hemolytic anemia 6 1
          congenital nonspherocytic hemolytic anemia 7 1
          congenital nonspherocytic hemolytic anemia 8 1
          congenital nonspherocytic hemolytic anemia 9 1
          favism 2
          triosephosphate isomerase deficiency 1
Path 2
Term Annotations click to browse term
  disease 10974
    disease of anatomical entity 10432
      Hemic and Lymphatic Diseases 1788
        hematopoietic system disease 1453
          anemia 411
            normocytic anemia 319
              hemolytic anemia 216
                congenital hemolytic anemia 161
                  congenital nonspherocytic hemolytic anemia 13
                    Anemia Due To Adenosine Triphosphatase Deficiency 0
                    Heinz body anemia 2
                    Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
                    Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane 0
                    Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism 0
                    congenital nonspherocytic hemolytic anemia 1 1
                    congenital nonspherocytic hemolytic anemia 10 1
                    congenital nonspherocytic hemolytic anemia 2 1
                    congenital nonspherocytic hemolytic anemia 3 1
                    congenital nonspherocytic hemolytic anemia 4 1
                    congenital nonspherocytic hemolytic anemia 5 1
                    congenital nonspherocytic hemolytic anemia 6 1
                    congenital nonspherocytic hemolytic anemia 7 1
                    congenital nonspherocytic hemolytic anemia 8 1
                    congenital nonspherocytic hemolytic anemia 9 1
                    favism 2
                    triosephosphate isomerase deficiency 1
paths to the root