epilepsy ring chromosome 14 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14 https://www.malacards.org/card/ring_chromosome_14_syndrome chromosome 14 ring MESH:C535487 MEDGEN:419284 GARD:0006072 ICD9:758.89 OMIM:616606 Chromosome 14 Ring NORD:939 ring chromosome 14 syndrome, isolated cases Ring chromosome type 14 Orphanet:1440 UMLS:C2930916 MONDO:0014708 Ring 14 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. DOID:0070621 SCTID:702345009 chromosome 14 disorder ring chromosome disorder obsolete_ring chromosome 14