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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:Jackson-Weiss syndrome
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Accession:DOID:0111337 term browser browse the term
Definition:A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. (DO)
Synonyms:exact_synonym: JWS;   acrocephalosyndactyly Jackson Weiss type;   craniosynostosis, midfacial hypoplasia, and foot abnormalities;   craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome;   enlarged great toes and craniofacial abnormalities
 primary_id: MESH:C537559
 alt_id: MIM:123150
 xref: GARD:6796;   NCI:C123814;   ORDO:1540


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Jackson-Weiss syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome 		OMIM
CTD
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO DNA:missense mutation:cds:p.R344G (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES | ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome 		OMIM
CTD
ClinVar
RGD		 PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      Jackson-Weiss syndrome 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      musculoskeletal system disease 8470
        connective tissue disease 5925
          bone disease 4372
            bone development disease 2350
              dysostosis 640
                synostosis 402
                  craniosynostosis 337
                    Jackson-Weiss syndrome 2
paths to the root