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:
spondylometaepiphyseal dysplasia, short limb-hand type
A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3. (DO)
Synonyms:
exact_synonym:
SMED Type II; SMED type 2; SMED, Short Limb-Abnormal Calcification Type; SMED, Short Limb-Hand Type; SMED-SL; SMED-SL/AC; spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome; spondylometaepiphyseal dysplasia, short limb-abnormal calcification type
ClinVar Annotator: match by OMIM:271665 ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia short limb-hand type ClinVar Annotator: match by term: Smed short limb-abnormal calcification type