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X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2(AIH3, FORMERLY)

MedGen UID:
336845
Concept ID:
C1845051
Disease or Syndrome
Synonyms: AIH3 ( formerly); AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE; Amelogenesis imperfecta 3, hypoplastic type (formerly); ENAMEL HYPOPLASIA, X-LINKED 2
 
Monarch Initiative: MONDO:0010522
OMIM®: 301201

Definition

An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. [from MONDO]

Clinical features

From HPO
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.

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