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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:Freeman-Sheldon syndrome
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Accession:DOID:0111604 term browser browse the term
Definition:A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (DO)
Synonyms:exact_synonym: DA2A;   Distal Arthrogryposis, Type 2A;   FSS;   craniocarpotarsal dysplasia;   craniocarpotarsal dystrophy;   whistling face syndrome;   whistling face-windmill vane hand syndrome
 primary_id: MESH:C535483
 xref: NCI:C98931;   ORDO:2053
For additional species annotation, visit the Alliance of Genome Resources.


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Freeman-Sheldon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by OMIM:193700
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16642020, PMID:18414213, PMID:18695058, PMID:19142688, PMID:25741868, PMID:28492532, PMID:29805041, PMID:30311386, PMID:30379605, PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO OMIM NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Freeman-Sheldon syndrome 1
        autosomal recessive Whistling face syndrome 0
        distal arthrogryposis type 2A 1
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
                    Crouzon syndrome 24
                      Freeman-Sheldon syndrome 1
                        autosomal recessive Whistling face syndrome 0
                        distal arthrogryposis type 2A 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.