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:
syndromic X-linked intellectual disability Chudley-Schwartz type
A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. (DO)
Synonyms:
exact_synonym:
MRXSCS; X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance; syndromic X-linked intellectual developmental disorder, Chudley-Schwartz type; syndromic X-linked mental retardation, Chudley-Schwartz type