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: Vaso-occlusive Crisis
Accession: DOID:9003197
browse the term
Definition: A common painful complication of sickle cell anemia in adolescents and adults.
Synonyms: exact_synonym: Hemoglobin SS disease with vasoocclusive crisis
primary_id: RDO:9000347
For additional species annotation, visit the
Alliance of Genome Resources .
G
Gstm1
glutathione S-transferase, mu 1
severity
ISO
associated with Anemia, Sickle Cell;DNA:deletion:: (human)
RGD
PMID:24840051
RGD:10450860
NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
G
Gstt1
glutathione S-transferase, theta 1
ISO
associated with Anemia, Sickle Cell;DNA:deletion:: (human)
RGD
PMID:23590899
RGD:10450838
NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
G
Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:promoter,exon:
RGD
PMID:20172753
RGD:11530044
NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
G
Nos3
nitric oxide synthase 3, endothelial cell
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:repeats:intron:
RGD
PMID:25263931
RGD:11533931
NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
G
Slc4a1
solute carrier family 4 (anion exchanger), member 1
ISO
RGD
PMID:23643401
RGD:11100023
NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
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