syndromic disease hereditary disease aniridia-absent patella syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella https://www.malacards.org/card/aniridia_and_absent_patella UMLS:C1862868 MEDGEN:400149 OMIM:106220 Orphanet:1069 GARD:0000685 familial syndrome of aniridia and absence of the patella MESH:C566281 Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. aniridia absent patella MONDO:0007120