spondyloepimetaphyseal dysplasia, Handigodu type https://github.com/monarch-initiative/mondo/issues/5280 https://www.malacards.org/card/handigodu_joint_disease A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging. MONDO:0013233 GARD:0010741 spondyloepimetaphyseal dysplasia, Handigodu type MEDGEN:461895 icd11.foundation:2048058677 OMIM:613343 Orphanet:99642 UMLS:C3150545 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia