has characteristic has characteristic has material basis in germline mutation in TRAPPC2 X-linked inheritance X-linked disease spondyloepiphyseal dysplasia tarda, X-linked https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked https://www.malacards.org/card/spondyloepiphyseal_dysplasia_tarda_x_linked UMLS:C3541456 DOID:0080362 icd11.foundation:219612045 MEDGEN:762085 OMIM:313400 X linked spondyloepiphyseal dysplasia tarda SEDT GARD:0004985 X-linked spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia tarda, X-linked recessive spondyloepiphyseal dysplasia tarda, X-linked MONDO:0010737 spondyloepiphyseal dysplasia tarda X-linked X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern. SED spondyloepiphyseal dysplasia tarda