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 chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. (DO)
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 9 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 OMIM:215100 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GNPAT-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 OMIM:222765 CTD Direct Evidence: marker/mechanism
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