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 syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)
Synonyms:
exact_synonym:
Contractures of feet, muscle atrophy, and oculomotor apraxia; MCS; MRXS4; Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches; Miles-Carpenter X-linked mental retardation syndrome; WRWF; Wieacker Wolff syndrome; X-linked intellectual disability, Miles-Carpenter type; oculomotor apraxia, with congenital contractures and muscle atrophy; syndromic X-linked mental retardation 4
ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome CTD Direct Evidence: marker/mechanism