musculoskeletal system disorder
hereditary disease
Upington disease
https://rarediseases.info.nih.gov/diseases/5421/upington-disease
GARD:5421
familial dyschondroplasia
Upington disease
UMLS:C1860596
hip dysplasia-enchondromata-ecchondroma syndrome
OMIM:191520
MESH:C536472
Perthes-like hip disease, enchondromata, and Ecchondromata
MONDO:0008624
Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
Orphanet:3408
SCTID:719041000
obsolete primary bone dysplasia with disorganized development of skeletal components