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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: OMIM:610474
 xref: ORDO:85164
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Congenital Upper Extremity Deformities 122
                Congenital Hand Deformities 94
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
paths to the root