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 bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. (DO)
Synonyms:
exact_synonym:
Cheney syndrome; HJCYS; SFPKS; acroosteolysis with osteoporosis and changes in skull and mandible; arthrodentoosteodysplasia; arthrodentoosteodysplasias; multicentric osteolyses; multicentric osteolysis; serpentine fibula syndrome; serpentine fibula-polycystic kidney syndrome
ClinVar Annotator: match by term: Arthrodentoosteodysplasia | ClinVar Annotator: match by term: Cheney syndrome | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME