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.
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:215100