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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


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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 term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7773297 PMID:8589699 More... RGD:11568032 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 21089
    syndrome 10784
      Crouzon syndrome-acanthosis nigricans syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    Pathological Conditions, Signs and Symptoms 13265
      Signs and Symptoms 10704
        Neurologic Manifestations 9941
          sensory system disease 6836
            skin disease 3901
              pigmentation disease 277
                Hyperpigmentation 50
                  Melanosis 40
                    acanthosis nigricans 9
                      Crouzon syndrome-acanthosis nigricans syndrome 1
paths to the root