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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: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 FGFR2 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: OMIM:123150
 xref: GARD:6796;   NCI:C123814;   ORDO:1540
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome
DNA:missense mutation:cds:p.R344G (human)
PMID:7558045 PMID:7581378 PMID:7655462 PMID:7719329 PMID:7719344 More... RGD:12801470 NCBI chr 1:184,745,418...184,850,655
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 18030
    syndrome 9456
      Jackson-Weiss syndrome 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              dysostosis 436
                synostosis 273
                  craniosynostosis 219
                    Jackson-Weiss syndrome 2
paths to the root