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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 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.


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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 ClinVar Annotator: match by term: Jackson-Weiss syndrome OMIM
ClinVar
PMID:7795583, PMID:7874169, PMID:10861678, PMID:10942429, PMID:14564217, PMID:14613973, PMID:16957473, PMID:24127277, PMID:24497711, PMID:25251565, PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Jackson-Weiss syndrome
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities
DNA:missense mutation:cds:p.R344G (human)
ClinVar Annotator: match by OMIM:123150
OMIM
ClinVar
PMID:7558045, PMID:7581378, PMID:7655462, PMID:7668257, PMID:7719329, PMID:7719344, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8528214, PMID:8644708, PMID:8651276, PMID:8957519, PMID:9385368, PMID:9462761, PMID:9586546, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10541159, PMID:10633130, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:12884424, PMID:12884434, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18552176, PMID:19066959, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25759925, PMID:25867380, PMID:26362256, PMID:26380986, PMID:26619011, PMID:27481450, PMID:28492532, PMID:30311386, PMID:31145570, PMID:7874170 RGD:12801470 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Jackson-Weiss syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Jackson-Weiss syndrome 2
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.