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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



show annotations for term's descendants           Sort by:
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 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16469290 NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN DENVER
CTD
ClinVar
RGD
PMID:8133661 PMID:15929117 PMID:19429541 PMID:1272328 RGD:1600888 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Cyanosis 5
          Cyanosis and Hepatic Disease 0
          Infantile Apparent Life-Threatening Event 0
          Rombo Syndrome 0
          Transient Neonatal Cyanosis 0
paths to the root