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Amelogenesis imperfecta hypomaturation type 2A4(AI2A4)

MedGen UID:
766744
•Concept ID:
C3553830
•
Disease or Syndrome
Synonym: Amelogenesis imperfecta, hypomaturation type, IIA4
 
Gene (location): ODAPH (4q21.1)
 
Monarch Initiative: MONDO:0013906
OMIM®: 614832

Definition

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

Clinical features

From HPO
Amelogenesis imperfecta
MedGen UID:
240
•Concept ID:
C0002452
•
Congenital Abnormality
A developmental dysplasia of the dental enamel.
See: Feature record | Search on this feature
Enamel hypomineralization
MedGen UID:
1802594
•Concept ID:
C5690820
•
Disease or Syndrome
A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.
See: Feature record | Search on this feature
Enamel hypoplasia
MedGen UID:
3730
•Concept ID:
C0011351
•
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
See: Feature record | Search on this feature
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Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • GTR(Research)
      Research tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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