disease arises from structure disease arises from alteration in structure disease has major feature 18q (Human) syndrome caused by partial chromosomal deletion syndromic disease epilepsy cataract chromosome 18q deletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/chromosome_18q_deletion_syndrome https://www.malacards.org/card/partial_deletion_of_the_long_arm_of_chromosome_18_syndrome chromosome 18q deletion NANDO:1200579 NANDO:2201291 icd11.foundation:1121828795 A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. Orphanet:262146 NORD:946 proximal 18q deletion deletion 18q syndrome partial deletion of the long arm of chromosome type 18 partial monosomy of the long arm of chromosome 18 partial deletion of chromosome 18q partial deletion of the long arm of chromosome 18 18q-syndrome MEDGEN:96605 proximal 18q- NCIT:C84522 UMLS:C0432443 proximal chromosome 18q deletion syndrome Orphanet:1600 ICD9:758.39 MONDO:0011147 MESH:C536580 Chromosome 18q- Syndrome DOID:0060407 proximal 18q deletion syndrome monosomy type 18q 18q deletion syndrome 18Q syndrome partial monosomy of chromosome 18q chromosome 18q deletion syndrome deletion 18q GARD:0020837 SCTID:270889005 monosomy 18q syndrome OMIM:601808 obsolete syndrome or malformation associated with head and neck malformations partial deletion of chromosome 18 obsolete chromosomal anomaly with cataract