Amelogenesis imperfecta hypomaturation type 2A3

Synonyms: Amelogenesis imperfecta, hypomaturation type, IIA3; Amelogenesis imperfecta, type IIA3

Summary

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. [from MONDO]

Available tests

12 tests are in the database for this condition.

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Clinical tests (11 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.

WDR72
24 tests
Also known as: AI2A3, WDR72
Summary: WD repeat domain 72

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
- Hypomature dental enamel
  Hypomature dental enamel
  - MedGen UID: 869122
  - Concept ID: C4023540
  - Finding: Finding
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature

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