has material basis in germline mutation in COMP multiple epiphyseal dysplasia type 1 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1 https://www.malacards.org/card/epiphyseal_dysplasia_multiple_1_2 epiphyseal dysplasia, multiple, 1 GARD:0002180 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. EDM1 SCTID:715673002 epiphyseal dysplasia multiple 1 epiphyseal dysplasia, multiple, type 1 multiple epiphyseal dysplasia (disease) caused by mutation in COMP DOID:0070303 Orphanet:93308 COMP multiple epiphyseal dysplasia (disease) multiple epiphyseal dysplasia 1 icd11.foundation:2130489957 multiple epiphyseal dysplasia COMP-related MONDO:0007561 Polyepiphyseal dysplasia type 1 MEDGEN:325376 UMLS:C1838280 OMIM:132400 MED1 multiple epiphyseal dysplasia COMP-related skeletal dysplasia