Amelogenesis imperfecta type 3B

Synonyms: AMELOGENESIS IMPERFECTA, TYPE IIIB

Summary

Hypomineralized amelogenesis imperfecta type IIIB (AI3B) is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places (Smith et al., 2016). [from OMIM]

Available tests

3 tests are in the database for this condition.

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Clinical tests (2 available)

Molecular Genetics Tests

Research tests

See all research tests for this condition (1)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

AMTN
7 tests
Also known as: AI3B, UNQ689, AMTN
Summary: amelotin

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
  Amelogenesis imperfecta
  - MedGen UID: 240
  - Concept ID: C0002452
  - Finding: Congenital Abnormality
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature
- Enamel hypomineralization
  Enamel hypomineralization
  - MedGen UID: 1802594
  - Concept ID: C5690820
  - Finding: Disease or Syndrome
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature

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