syndromic disease obsolete neuro-ophthalmological disease trisomy 13 https://github.com/monarch-initiative/mondo/pull/5597#issuecomment-1316149238 https://www.malacards.org/card/patau_syndrome SCTID:21111006 MedDRA:10044686 Orphanet:3378 MEDGEN:56261 trisomy type 13 NORD:1796 trisomy 13 Patau's syndrome MESH:C536305 NANDO:2200964 UMLS:C0152095 NCIT:C36529 NCIT:C101223 icd11.foundation:1435958084 MONDO:0018068 Trisomy 13 Syndrome Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. GARD:0007341 chromosome 13, trisomy 13 complete Patau syndrome DOID:11665 D trisomy syndrome (formerly) ICD9:758.1 congenital vitreoretinal dysplasia chromosome 13 disorder trisomy obsolete_trisomy 13