has material basis in germline mutation in FAM20A amelogenesis imperfecta type 1G https://github.com/monarch-initiative/mondo/issues/3537 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/amelogenesis_imperfecta_type_ig amelogenesis imperfecta and gingival fibromatosis syndrome MESH:C538241 FAM20A amelogenesis imperfecta enamel renal syndrome ers OMIM:614253 generalised enamel hypoplasia and renal dysfunction SCTID:109477002 amelogenesis imperfecta, type IG GARD:0000646 Orphanet:1031 amelogenesis imperfecta and nephrocalcinosis AIGFS amelogenesis imperfecta-gingival hyperplasia syndrome MONDO:0008771 MEDGEN:419162 amelogenesis imperfecta hypoplastic type, IG enamel-renal syndrome Orphanet:171836 amelogenesis imperfecta nephrocalcinosis An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. UMLS:C2931783 generalized enamel hypoplasia and renal dysfunction DOID:0110066 amelogenesis imperfecta caused by mutation in FAM20A absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta, type IG (enamel-renal syndrome) OMIM:204690 ICD9:520.5 enamel-renal-gingival syndrome ERS AI1G amelogenesis imperfecta obsolete nephropathy secondary to a storage or other metabolic disease disorder of development or morphogenesis