Freeman-Sheldon syndrome - Ontology Report

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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	go back to main search page
Accession:	DOID:0111604	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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Genes (1)

Freeman-Sheldon syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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:30379605 PMID:30826400

NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194

distal arthrogryposis type 2A