has material basis in germline mutation in TRIM44 eye carcinoma iris cancer hereditary renal cell carcinoma isolated aniridia aniridia 3 https://github.com/monarch-initiative/mondo/issues/7066 https://www.malacards.org/card/aniridia_3 Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene. GARD:0016201 isolated aniridia caused by mutation in TRIM44 OMIM:617142 aniridia 3 aniridia 3; AN3 AN3 MONDO:0014938 MEDGEN:934662 The term, ocular dysgenesis caused by defects in PAX6 regulation, was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus ( MONDO:0014937 aniridia 2) or TRIM44 locus (this class, MONDO:0014938 aniridia 3). TRIM44 isolated aniridia UMLS:C4310695 aniridia type 3 SMARCB1-deficient kidney medullary carcinoma hereditary neurological disease