has material basis in germline mutation in FN1 spondylometaphyseal dysplasia, 'corner fracture' type https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type https://www.malacards.org/card/spondylometaphyseal_dysplasia_corner_fracture_type_2 spondylometaphyseal dysplasia Sutcliffe type MONDO:0008479 SCTID:254078005 GARD:0004991 Sutcliffe SmD MESH:C535793 Sutcliffe type of spondylometaphyseal dysplasia spondylometaphyseal dysplasia corner fracture type UMLS:C0432221 Orphanet:93315 spondylometaphyseal dysplasia, Sutcliffe type SMDCF A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). OMIM:184255 DOID:0112297 MEDGEN:98146 icd11.foundation:1295452752 spondylometaphyseal dysplasia obsolete type 2 collagen-related bone disorder type 2 collagenopathy