Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: amelogenesis imperfecta type IA amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta caused by mutation in LAMB3 AI1A LAMB3 amelogenesis imperfecta
Term information
- GARD:15038 (MONDO:GARD)
- MESH:C538240 (MONDO:equivalentTo)
- UMLS:C4011403 (MONDO:equivalentTo)
- OMIM:104530 (MONDO:equivalentTo)
- DOID:0110054 (MONDO:equivalentTo)
- MEDGEN:859840 (MONDO:equivalentTo)
gard_rare, rare
http://linkedlifedata.com/resource/umls/id/C4011403
http://identifiers.org/mesh/C538240
http://purl.obolibrary.org/obo/DOID_0110054
http://identifiers.org/medgen/859840
https://omim.org/entry/104530
amelogenesis imperfecta, type 1A
local hypoplastic amelogenesis imperfecta
amelogenesis imperfecta, hypoplastic type 1A
amelogenesis imperfecta local hypoplastic
amelogenesis imperfecta, type IA