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: Altitude Sickness
Accession: DOID:9005785
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Definition: Multiple symptoms associated with reduced oxygen at high ALTITUDE.
Synonyms: exact_synonym: Altitude Hypoxia; Altitude Hypoxias; Monge's disease; Mountain Sickness; acute hypobaric hypoxia
related_synonym: Chronic mountain sickness, susceptibility to
primary_id: MESH:D000532
alt_id: OMIM:616182
xref: EFO:0010143 ; EFO:1000782
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Gata1
GATA binding protein 1
ISO
mRNA, protein:increased expression:bone marrow, mononuclear cell
RGD
PMID:18078130
RGD:10450750
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Hmox1
heme oxygenase 1
IEP
RGD
PMID:23537263
RGD:10755714
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Dnm1l
dynamin 1-like
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Fis1
fission, mitochondrial 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25373139
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Hmox1
heme oxygenase 1
IEP
protein:increased expression:lung
RGD
PMID:21296072
RGD:10755745
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mfn2
mitofusin 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:23517027
RGD:12738217
NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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