has material basis in germline mutation in MATN3 spondyloepimetaphyseal dysplasia, matrilin-3 type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_borochowitz_cormier_daire_type MESH:C563869 MEDGEN:325181 OMIM:608728 Orphanet:156728 SCTID:719166003 icd11.foundation:1983063881 UMLS:C1837481 MONDO:0012108 GARD:0010611 SEMD, MATN3-related SEMD MATN3-related spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type spondyloepimetaphyseal dysplasia matrilin-3 type spondyloepimetaphyseal dysplasia matrilin-3 related SEMD, matrilin-3 type A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia