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
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Definition: A common painful complication of sickle cell anemia in adolescents and adults.
Synonyms: exact_synonym: Hemoglobin SS disease with vasoocclusive crisis
G
Gstm1
glutathione S-transferase mu 1
severity
ISO
associated with Anemia, Sickle Cell;DNA:deletion:: (human)
RGD
PMID:24840051
RGD:10450860
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
ISO
associated with Anemia, Sickle Cell;DNA:deletion:: (human)
RGD
PMID:23590899
RGD:10450838
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:promoter,exon:
RGD
PMID:20172753
RGD:11530044
NCBI chr 1:228,016,439...228,024,736
G
Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:repeats:intron:
RGD
PMID:25263931
RGD:11533931
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Pde9a
phosphodiesterase 9A
treatment
ISO
RGD
PMID:22833547
RGD:242905184
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
G
Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
RGD
PMID:23643401
RGD:11100023
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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