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RGD uses the Human Disease Ontology (DO, 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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Crouzon syndrome-acanthosis nigricans 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
DNA:missense mutation:p.A391E(human)
ClinVar Annotator: match by OMIM:612247
ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans
PMID:1908846 PMID:7493034 PMID:7773297 PMID:8589699 PMID:8858131 More... RGD:11568032 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Crouzon syndrome-acanthosis nigricans syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Skin and Connective Tissue Diseases 5813
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  craniosynostosis 185
                    Crouzon syndrome 24
                      Crouzon syndrome-acanthosis nigricans syndrome 1
paths to the root