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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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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: Crouzon syndrome with acanthosis nigricans
ClinVar Annotator: match by term: CROUZONODERMOSKELETAL SYNDROME
OMIM
CTD
ClinVar
PMID:1908846, PMID:1956068, PMID:4078868, PMID:7493034, PMID:7670477, PMID:7773297, PMID:7847369, PMID:8589699, PMID:8845844, PMID:8858131, PMID:8880573, PMID:9450868, PMID:9580776, PMID:9677066, PMID:9857065, PMID:9950359, PMID:10053006, PMID:10073901, PMID:10213050, PMID:10471491, PMID:10602123, PMID:10696568, PMID:10777366, PMID:11038465, PMID:11055896, PMID:11241532, PMID:11426459, PMID:11529856, PMID:11879084, PMID:12707965, PMID:12833394, PMID:15241680, PMID:15772091, PMID:16501574, PMID:16841094, PMID:17033969, PMID:17384684, PMID:17875876, PMID:17935505, PMID:17950653, PMID:18000976, PMID:18328977, PMID:18344207, PMID:18583390, PMID:18642369, PMID:18976668, PMID:19098178, PMID:19165726, PMID:19381019, PMID:19449410, PMID:19749790, PMID:20199409, PMID:21536014, PMID:22045636, PMID:22604720, PMID:23165795, PMID:23378035, PMID:23437153, PMID:23740942, PMID:24864036, PMID:25157968, PMID:25326635, PMID:25356217, PMID:25606676, PMID:25741868, PMID:25809207, PMID:25931420, PMID:26028288, PMID:26619011, PMID:26740388, PMID:26818779, PMID:28492532, PMID:30311386, PMID:7493034 RGD:11568032 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Crouzon syndrome-acanthosis nigricans syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Crouzon syndrome-acanthosis nigricans syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.