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Metadata
ID DOID:0110055
Name amelogenesis imperfecta type 3A
Definition An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24.
https://www.ncbi.nlm.nih.gov/pubmed/18252228, https://www.ncbi.nlm.nih.gov/pubmed/18484629
Xrefs

ICD10CM:K00.5

OMIM:130900

Synonyms

ADHCAI [EXACT]

AI3 [EXACT]

amelogenesis imperfecta hypomineralization type [EXACT]

amelogenesis imperfecta type III [EXACT]

autosomal dominant amelogenesis imperfecta hypocalcification type [EXACT]

Parent Relationships

is_a amelogenesis imperfecta type 3

is_a autosomal dominant disease

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