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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:camptodactyly-tall stature-scoliosis-hearing loss syndrome
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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: MIM:610474
 xref: ORDO:85164


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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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 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 19050
    syndrome 11180
      camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        Neurologic Manifestations 10336
          sensory system disease 7255
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Hearing Disorders 839
                  Hearing Loss 834
                    camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
paths to the root