disease has feature Intellectual disability Abnormality of the cardiovascular system Abnormal facial shape syndromic intellectual disability syndromic disease hereditary disease epilepsy Down syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9097 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/down_syndrome May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future DOID:14250 OMIM:190685 ICD10WHO:Q90 ICD10CM:Q90 Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. MEDGEN:4385 trisomy 21 MedDRA:10044688 SCTID:41040004 EFO:0001064 Down syndrome, Isolated cases NANDO:2200965 leukemia, megakaryoblastic, with or without Down syndrome, somatic MONDO:0008608 Orphanet:870 NCIT:C2993 icd11.foundation:1624623908 Down syndrome Down's syndrome complete trisomy 21 syndrome MESH:D004314 trisomy 21 (Down syndrome) trisomy 21 syndrome UMLS:C0013080 ICD9:758.0 multiple congenital anomalies/dysmorphic syndrome-intellectual disability obsolete rare syndrome with cardiac malformations obsolete chromosomal anomaly with epilepsy as a major feature obsolete Moyamoya syndrome chromosome 21 disorder