Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:CHITAYAT SYNDROME
go back to main search page
Accession:DOID:9001260 term browser browse the term
Definition:A rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose. (OMIM)
Synonyms:exact_synonym: CHYTS
 primary_id: OMIM:617180
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
CHITAYAT SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      CHITAYAT SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      respiratory system disease 3350
        lower respiratory tract disease 2195
          bronchial disease 940
            Tracheobronchomalacia 2
              Bronchomalacia 2
                CHITAYAT SYNDROME 1
paths to the root