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.
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