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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
 primary_id: MESH:D000746
 xref: ORDO:712
For additional species annotation, visit the Alliance of Genome Resources.


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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 3:11,652,143...11,659,135 JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISS OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 MouseDO NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human)
CTD PMID:4125296 PMID:10666231, PMID:1999409, PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO
ISS
OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:
MouseDO PMID:17041899, PMID:8417789, PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
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:1601519, RGD:11353878 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 4:87,238,325...87,281,234
Ensembl chr 4:87,237,949...87,281,157
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:snp:promoter:g.-72A>G (human)
RGD PMID:7949104, PMID:1536957, PMID:8161798, PMID:11054094 RGD:11535979, RGD:11535981, RGD:11535983, RGD:11535987 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
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 AURES
ClinVar Annotator: match by term: G6PD A-
ClinVar Annotator: match by term: G6PD MINNESOTA
ClinVar Annotator: match by term: G6PD MALAGA
CTD
ClinVar
OMIM
PMID:5448 PMID:16832 PMID:848857 PMID:1303173 PMID:1303182 PMID:1536798 PMID:1551674 PMID:1562739 PMID:1631957 PMID:1805484 PMID:1924316 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:1999409 PMID:2255919 PMID:2263506 PMID:2321910 PMID:2503817 PMID:2572288 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2912069 PMID:3338798 PMID:3393536 PMID:3446582 PMID:3565372 PMID:4154774 PMID:4283789 PMID:4359638 PMID:4388132 PMID:4435794 PMID:4837298 PMID:4974311 PMID:5305539 PMID:5369703 PMID:5485383 PMID:5673160 PMID:5770172 PMID:6015571 PMID:6344088 PMID:6698555 PMID:6714978 PMID:6714986 PMID:7129446 PMID:7160841 PMID:7203486 PMID:7327562 PMID:7390473 PMID:7789945 PMID:7806085 PMID:7825590 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8241497 PMID:8364584 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8533762 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8807322 PMID:8860013 PMID:8956035 PMID:9192788 PMID:9299858 PMID:9342374 PMID:9589612 PMID:9674740 PMID:9858856 PMID:10221015 PMID:10502785 PMID:10643148 PMID:10666231 PMID:10734064 PMID:10782016 PMID:11024211 PMID:11112389 PMID:11243133 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11601226 PMID:11793482 PMID:11852882 PMID:12028056 PMID:12064920 PMID:12130518 PMID:12215013 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12768444 PMID:12850494 PMID:14278484 PMID:14505231 PMID:15183620 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15502081 PMID:15766741 PMID:15906717 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16329560 PMID:16356170 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:17233850 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18043863 PMID:18046504 PMID:18177777 PMID:18270558 PMID:18329300 PMID:19112496 PMID:19422023 PMID:19589177 PMID:19594365 PMID:19632868 PMID:19690618 PMID:20007901 PMID:20085579 PMID:20203002 PMID:20236109 PMID:20582980 PMID:20602793 PMID:20621077 PMID:21153663 PMID:21302115 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22165289 PMID:22171972 PMID:22237549 PMID:22293322 PMID:22906047 PMID:22906837 PMID:22963789 PMID:22963798 PMID:22992668 PMID:23006493 PMID:23144702 PMID:23365477 PMID:23479361 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24101478 PMID:24460025 PMID:24505519 PMID:24551785 PMID:24586352 PMID:25141282 PMID:25201310 PMID:25326637 PMID:25440321 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25775246 PMID:26060661 PMID:26226515 PMID:26633385 PMID:26823837 PMID:26829728 PMID:27040960 PMID:27053284 PMID:27213370 PMID:27287612 PMID:27519946 PMID:27535533 PMID:27880809 PMID:27980749 PMID:28195434 PMID:28492532 PMID:29072585 PMID:29339739 PMID:30045279 PMID:30097005 PMID:30315739 PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
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: Favism, susceptibility to
ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:25741868 PMID:28492532 PMID:29339739 PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
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 chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heinz body anemias
ClinVar Annotator: match by OMIM:140700
OMIM
ClinVar
CTD
PMID:974034 PMID:2833478 PMID:4724958 PMID:5639009 PMID:5969816 PMID:6199285 PMID:6935689 PMID:7558871 PMID:7803274 PMID:8178806 PMID:25741868 PMID:26467025 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO OMIM NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:49057 PMID:81926 PMID:88735 PMID:186485 PMID:711920 PMID:721609 PMID:909565 PMID:1164567 PMID:1173714 PMID:1301203 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1463768 PMID:1483699 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1917531 PMID:1967205 PMID:1986365 PMID:2004023 PMID:2005117 PMID:2200760 PMID:2296310 PMID:2298457 PMID:2446680 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2599881 PMID:2713503 PMID:2752127 PMID:2867271 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:3048433 PMID:3260032 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3557999 PMID:3690667 PMID:3752087 PMID:3768534 PMID:3781865 PMID:3821796 PMID:3937827 PMID:4232783 PMID:4281476 PMID:4407364 PMID:4514958 PMID:4525423 PMID:4808645 PMID:4942314 PMID:5059650 PMID:5079107 PMID:5420592 PMID:5698750 PMID:5785231 PMID:5856115 PMID:5869485 PMID:5881530 PMID:6029950 PMID:6050213 PMID:6067323 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6457059 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6714226 PMID:6859036 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7357091 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7860732 PMID:7864023 PMID:7993409 PMID:8095930 PMID:8199597 PMID:8226093 PMID:8330981 PMID:8373896 PMID:8462981 PMID:8602996 PMID:8619407 PMID:8704193 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9140720 PMID:9401495 PMID:9490703 PMID:9859938 PMID:10335989 PMID:10602954 PMID:10612821 PMID:10975446 PMID:11545326 PMID:11559932 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939506 PMID:11939510 PMID:12124399 PMID:12144057 PMID:12764548 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13852872 PMID:14198723 PMID:14576320 PMID:15108284 PMID:15395398 PMID:15654898 PMID:16001361 PMID:16291734 PMID:16311287 PMID:16470532 PMID:17287491 PMID:17331080 PMID:17365006 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19429541 PMID:19758965 PMID:19958185 PMID:20132300 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20309827 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20642331 PMID:20704537 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21228398 PMID:21389146 PMID:21417574 PMID:21523319 PMID:21529713 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22625666 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24493127 PMID:24857915 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25155404 PMID:25332589 PMID:25525159 PMID:25572186 PMID:25741868 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26372199 PMID:26467025 PMID:27207683 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:28356267 PMID:28366028 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:29695942 PMID:31714438 PMID:32581362 PMID:32860008, PMID:2599881 RGD:1600889 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
pyruvate kinase deficiency of red cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
ClinVar Annotator: match by OMIM:266200
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout
OMIM
ClinVar
PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 PMID:7655861 PMID:7702630 PMID:7706479 PMID:7919353 PMID:7948315 PMID:8161798 PMID:8483951 PMID:9057665 PMID:9389718 PMID:9657767 PMID:9827908 PMID:9886305 PMID:10828047 PMID:11054094 PMID:11328279 PMID:11698298 PMID:11960989 PMID:12393511 PMID:14014643 PMID:14255553 PMID:15491302 PMID:15953013 PMID:16704447 PMID:17574881 PMID:18172691 PMID:18420493 PMID:18759866 PMID:19085939 PMID:19758413 PMID:21815188 PMID:21833022 PMID:23082140 PMID:24033266 PMID:25741868 PMID:26658699 PMID:26728349 PMID:26832193 PMID:27346685 PMID:27871768 PMID:28133914 PMID:28492532, PMID:7579416, PMID:16704447, PMID:19755962 RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
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 OMIM:615512
ClinVar Annotator: match by term: Triosephosphate isomerase deficiency
ClinVar
OMIM
PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 PMID:8571957 PMID:9338582 PMID:9842650 PMID:10209987 PMID:10910933 PMID:11196750 PMID:11698297 PMID:17183658 PMID:18562316 PMID:20374271 PMID:24033266 PMID:24056040 PMID:24192681 PMID:24840153 PMID:25741868 PMID:26863999 PMID:27717089 PMID:28492532 PMID:32873690 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital hemolytic anemia 138
        congenital nonspherocytic hemolytic anemia 14
          Anemia Due To Adenosine Triphosphatase Deficiency 0
          Heinz body anemia 4
          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
          favism 3
          pyruvate kinase deficiency of red cells 2
          triosephosphate isomerase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Hemic and Lymphatic Diseases 2166
        hematopoietic system disease 1751
          anemia 411
            normocytic anemia 185
              hemolytic anemia 185
                congenital hemolytic anemia 138
                  congenital nonspherocytic hemolytic anemia 14
                    Anemia Due To Adenosine Triphosphatase Deficiency 0
                    Heinz body anemia 4
                    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
                    favism 3
                    pyruvate kinase deficiency of red cells 2
                    triosephosphate isomerase deficiency 1
paths to the root