has material basis in germline mutation in SLC26A2 mineral metabolism disease multiple epiphyseal dysplasia type 4 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6760 https://www.malacards.org/card/epiphyseal_dysplasia_multiple_4 Polyepiphyseal dysplasia type 4 Recessive Multiple Epiphyseal Dysplasia multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2 Orphanet:93307 epiphyseal dysplasia, multiple, type 4 epiphyseal dysplasia, multiple, 4 multiple epiphyseal dysplasia 4 multiple epiphyseal dysplasia with double-layered patella NORD:1881 SCTID:715672007 DOID:0070300 MED4 SLC26A2 multiple epiphyseal dysplasia (disease) MONDO:0009189 icd11.foundation:1927114777 MEDGEN:376164 rMED OMIM:226900 MESH:C535504 autosomal recessive multiple epiphyseal dysplasia UMLS:C1847593 Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. epiphyseal dysplasia multiple 4 EDM4 GARD:0009793 multiple epiphyseal dysplasia inborn errors of metabolism SLC26A2-related skeletal dysplasia