has material basis in germline mutation in PAPSS2 mineral metabolism disease spondyloepiphyseal dysplasia inborn errors of metabolism spondyloepimetaphyseal dysplasia, PAPSS2 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://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/brachyolmia_type_4_with_mild_epiphyseal_and_metaphyseal_changes A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. GARD:0016813 MONDO:0019666 spondyloepimetaphyseal dysplasia, Pakistani type BCYM4 OMIM:612847 Orphanet:93282 brachyolmia 4 with mild epiphyseal and metaphyseal changes SCTID:719172003 DOID:0050812 UMLS:C2748516 MEDGEN:440564 brachyolmia type 4 with mild epiphyseal and metaphyseal changes spondyloepimetaphyseal dysplasia