amelogenesis imperfecta type 1G

Summary

DOID:0110066 - amelogenesis imperfecta type 1G

Disease Ontology Definition:An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

Synonyms: AI1G, AIGFS, amelogenesis imperfecta and gingival fibromatosis syndrome, amelogenesis imperfecta hypoplastic with nephrocalcinosis, amelogenesis imperfecta type IG, enamel-renal-gingival syndrome, enamel-renal syndrome, ERS

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fam20a, fam20a.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008771 - amelogenesis imperfecta type 1G

MONDO:0008771 - amelogenesis imperfecta type 1G

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): amelogenesis imperfecta (is_a), autosomal recessive disease (is_a)