Amelogenesis imperfecta, type 3A(AI3A)

MedGen UID:: 1854533
•Concept ID:: C5886770
•: Disease or Syndrome

Synonyms:	AI3A; AMELOGENESIS IMPERFECTA, TYPE IIIA; AMELOGENESIS IMPERFECTA, TYPE IIIA, LOCALIZED

Monarch Initiative:	MONDO:0007538
OMIM®:	130900

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene. [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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Dental malocclusion

MedGen UID:: 9869
•Concept ID:: C0024636
•: Anatomical Abnormality

Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.

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Anterior open-bite malocclusion

MedGen UID:: 120566
•Concept ID:: C0266060
•: Finding

Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.

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