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Metadata
ID DOID:0110060
Name amelogenesis imperfecta hypomaturation type 2A2
Definition An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).
https://www.ncbi.nlm.nih.gov/pubmed/15744043
Xrefs

ICD10CM:K00.5

OMIM:612529

Synonyms

AI2A2 [EXACT]

amelogenesis imperfecta hypomaturation type IIA2 [EXACT]

amelogenesis imperfecta pigmented hypomaturation type 2 [EXACT]

amelogenesis imperfecta type IIA2 [EXACT]

Parent Relationships

is_a amelogenesis imperfecta

is_a autosomal recessive disease

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