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:
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
A disease characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes, including abnormalities of fingers and toes. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities.
Synonyms:
exact_synonym:
FBXW11-RELATED NEURODEVELOPMENTAL, BRAIN, EYE, AND DIGIT ANOMALIES; NEDJED; OMIM:618914