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RGD uses the Human Disease Ontology (DO, 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.

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Accession:DOID:13628 term browser browse the term
Definition:Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the Vicia fava plant by persons with glucose-6-phosphate dehydrogenase deficient erythrocytes.
Synonyms:exact_synonym: Favism, Susceptibility To;   Favisms;   nonspherocytic hemolytic anemia due to G6PD deficiency
 related_synonym: G6PD AURES;   G6PD Gastonia;   G6PD Malaga;   G6PD NARA;   G6PD Santiago;   G6PD Serres;   G6PD Sunderland;   G6pd Marion;   G6pd Mediterranean;   G6pd Minnesota;   G6pd Santiago De Cuba;   G6pd a-
 primary_id: MESH:D005236
 alt_id: MESH:C567533;   OMIM:300908;   RDO:0005581;   RDO:0015590
 xref: ICD10CM:D55.0;   NCI:C34607
For additional species annotation, visit the Alliance of Genome Resources.

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favism term browser
Symbol Object Name 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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      congenital hemolytic anemia 138
        congenital nonspherocytic hemolytic anemia 14
          favism 3
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Hemic and Lymphatic Diseases 2175
        hematopoietic system disease 1760
          anemia 412
            normocytic anemia 185
              hemolytic anemia 185
                congenital hemolytic anemia 138
                  congenital nonspherocytic hemolytic anemia 14
                    favism 3
paths to the root