FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term amelogenesis imperfecta type 3A ID (Ontology) DOID:0110055 (Human Disease)
Definition An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
Also Known As "ADHCAI" ; "amelogenesis imperfecta hypomineralization type" ; "amelogenesis imperfecta type III" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease______
amelogenesis imperfecta             |
 |__amelogenesis imperfecta type 3__|
                                    amelogenesis imperfecta type 3A
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
amelogenesis imperfecta type 3
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "ADHCAI" EXACT OMO:0003012
    "amelogenesis imperfecta hypomineralization type" EXACT
    "amelogenesis imperfecta type III" EXACT
    "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:K00.5
MIM:130900