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: Hemolysis
Accession: DOID:9003603
browse the term
Definition: The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
Synonyms: exact_synonym: Extravascular Hemolyses; Extravascular Hemolysis; Intravascular Hemolyses; Intravascular Hemolysis
related_synonym: G6PD GIFU
primary_id: MESH:D006461
xref: EFO:0009473
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25247420
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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G6pd
glucose-6-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: G6PD GIFU
CTD ClinVar
PMID:16832 PMID:734759 PMID:1562739 PMID:2263506 PMID:4283789 PMID:4379606 PMID:4435794 PMID:4721339 PMID:5432368 PMID:5485383 PMID:6714986 PMID:7440223 PMID:7590755 PMID:7803800 PMID:8244337 PMID:8471773 PMID:8537082 PMID:9589612 PMID:10502785 PMID:10643148 PMID:11024211 PMID:11499668 PMID:11793482 PMID:12497642 PMID:15727905 PMID:16329560 PMID:16607506 PMID:17587269 PMID:17726510 PMID:20203002 PMID:21446359 PMID:21874587 PMID:22164279 PMID:22171972 PMID:22963789 PMID:25440321 PMID:25541721 PMID:25741868 PMID:25775246 PMID:26823837 PMID:28492532 PMID:29300386 PMID:30045279 PMID:31489982 PMID:31862010 PMID:31863082 PMID:33636823 PMID:35840819 PMID:36315991 More...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:5766310
RGD:1600671
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25247420
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25247420
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il33
interleukin 33
ISO
associated with sickle cell anemia;protein:increased expression:plasma:
RGD
PMID:26107423
RGD:40400691
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Slc40a1
solute carrier family 40 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25247420
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25247420
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:22706301 PMID:23704091 PMID:24453067 PMID:25741868 PMID:28492532 More...
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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