disease arises from structure disease arises from alteration in structure chromosome 13 (Human) syndromic disease ring chromosome 13 https://github.com/monarch-initiative/mondo/issues/6878 https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13 https://www.malacards.org/card/ring_chromosome_13 Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. R13 Ring chromosome 13 syndrome SCTID:726723004 MEDGEN:444146 Ring chromosome type 13 Ring 13 Orphanet:96176 MESH:C538303 MONDO:0019907 chromosome 13 ring GARD:0006069 UMLS:C2931808 chromosome 13 disorder ring chromosome disorder