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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:Crouzon syndrome-acanthosis nigricans syndrome
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Accession:DOID:0111161 term browser browse the term
Definition:A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: CAN;   Crouzon syndrome with acanthosis nigricans;   Crouzon-dermoskeletal syndrome;   Crouzonodermoskeletal Syndrome
 primary_id: MESH:C567382
 alt_id: OMIM:612247
 xref: ORDO:93262
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
      Crouzon syndrome-acanthosis nigricans syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              dysostosis 436
                synostosis 273
                  craniosynostosis 219
                    Crouzon syndrome 28
                      Crouzon syndrome-acanthosis nigricans syndrome 1
paths to the root