has material basis in germline mutation in MATN3 multiple epiphyseal dysplasia type 5 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/epiphyseal_dysplasia_multiple_5 GARD:0009794 BHMED Orphanet:93311 MED5 MATN3 multiple epiphyseal dysplasia (disease) SCTID:715674008 UMLS:C1846843 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. icd11.foundation:537678813 bilateral hereditary micro-epiphyseal dysplasia MONDO:0011765 multiple epiphyseal dysplasia (disease) caused by mutation in MATN3 Polyepiphyseal dysplasia type 5 MEDGEN:335542 DOID:0070299 EDM5 multiple epiphyseal dysplasia 5 epiphyseal dysplasia multiple 5 epiphyseal dysplasia, multiple, 5 multiple epiphyseal dysplasia, MATN3 related epiphyseal dysplasia, multiple, type 5 MESH:C535505 OMIM:607078 multiple epiphyseal dysplasia