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Metadata
ID DOID:0110058
Name amelogenesis imperfecta type 1E
Definition An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX).
https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, https://www.omim.org/entry/301200
Xrefs

ICD10CM:K00.5

OMIM:301200

Synonyms

AIH1 [EXACT]

amelogenesis imperfecta hypomaturationtype with snow-capped teeth [EXACT]

amelogenesis imperfecta type IE [EXACT]

X-linked amelogenesis imperfecta 1 [EXACT]

X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 [EXACT]

X-linked enamel hypoplasia [RELATED]

Parent Relationships

is_a amelogenesis imperfecta

is_a X-linked dominant disease

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