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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:Cyanosis
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Accession:DOID:9000781 term browser browse the term
Definition:A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
Synonyms:exact_synonym: Cyanoses
 related_synonym: HEMOGLOBIN DENVER;   HEMOGLOBIN FREIBURG;   HEMOGLOBIN M (FREIBURG);   HEMOGLOBIN REISSMANN ET AL.;   Hemoglobin Kansas
 primary_id: MESH:D003490;   RDO:0001218
For additional species annotation, visit the Alliance of Genome Resources.


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Cyanosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2b adrenoceptor alpha 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729197 NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16469290 NCBI chr 7:124,024,003...124,041,564
Ensembl chr 7:124,023,995...124,041,594
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN DENVER
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8133661, PMID:15929117, PMID:19429541, PMID:1272328 RGD:1600888 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Cyanosis ClinVar PMID:25741868

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Signs and Symptoms 5266
        Cyanosis 5
          Cyanosis and Hepatic Disease 0
          Infantile Apparent Life-Threatening Event 0
          Rombo Syndrome 0
          Transient Neonatal Cyanosis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.