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:camptodactyly-tall stature-scoliosis-hearing loss syndrome
go back to main search page
Accession:DOID:0111160 term browser browse the term
Definition:A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: CATSHL syndrome;   CATSHLS;   camptodactyly, tall stature, and hearing loss syndrome
 primary_id: MESH:C537975
 alt_id: OMIM:610474
 xref: ORDO:85164
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by OMIM:610474
ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome
ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    syndrome 8140
      camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
Path 2
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        Congenital Abnormalities 5596
          Musculoskeletal Abnormalities 2242
            Congenital Limb Deformities 458
              Congenital Upper Extremity Deformities 90
                Congenital Hand Deformities 75
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
paths to the root