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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:CHITAYAT SYNDROME
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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;   RDO:9001392
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      CHITAYAT SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      respiratory system disease 2745
        upper respiratory tract disease 364
          tracheal disease 53
            Tracheobronchomalacia 1
              Bronchomalacia 1
                CHITAYAT SYNDROME 1
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.