has material basis in germline mutation in LMBR1 osteochondrodysplasia acheiropody https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/acheiropody Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. OMIM:200500 ACHP Orphanet:931 MONDO:0008700 acheiropodia GARD:0000376 MEDGEN:120547 MESH:C536014 SCTID:177504007 DOID:0050603 UMLS:C0265559 acheiropody non-syndromic limb reduction defect