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:
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly
This term is obsolete.
We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID.
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Definition:
An autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. (OMIM)