AI1Gamelogenesis imperfecta hypoplastic with nephrocalcinosisamelogenesis imperfecta type IGenamel-renal syndromeenamel-renal-gingival syndromeamelogenesis imperfecta and gingival fibromatosis syndromeERSAIGFS
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.