hereditary disease Emanuel syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome https://www.malacards.org/card/emanuel_syndrome GARD:0009835 SCTID:702417004 supernumerary der(22),t(11;22) syndrome UMLS:C1836929 Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. supernumerary der(22) syndrome Der(22)t(11;22) syndrome OMIM:609029 ICD9:758.5 MEDGEN:323030 NANDO:1200689 Emanuel syndrome MESH:C535733 Orphanet:96170 MONDO:0012176