Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006227:Hand Deformities, Acquired; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities