Amelogenesis imperfecta - hypoplastic autosomal dominant - local

Synonyms: Amelogenesis Imperfecta, Type IB; Amelogenesis imperfecta type 1B; ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED

Summary

Amelogenesis imperfecta type IB (AI1B) is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by Brookes et al., 2017). [from OMIM]

Available tests

15 tests are in the database for this condition.

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Clinical tests (13 available)

Molecular Genetics Tests

Research tests

See all research tests for this condition (2)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

ENAM
32 tests
Also known as: ADAI, AI1C, AIH2, ENAM
Summary: enamelin

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

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