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Tooth agenesis, selective, 3(STHAG3)

MedGen UID:
410035
•Concept ID:
C1970291
•
Disease or Syndrome
Synonyms: HYPODONTIA/OLIGODONTIA 3; STHAG3
 
Gene (location): PAX9 (14q13.3)
 
Monarch Initiative: MONDO:0011477
OMIM®: 604625

Definition

Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene. [from MONDO]

Clinical features

From HPO
Microdontia
MedGen UID:
66008
•Concept ID:
C0240340
•
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
See: Feature record | Search on this feature
Oligodontia of primary teeth
MedGen UID:
868598
•Concept ID:
C4022997
•
Finding
Reduced number of primary teeth.
See: Feature record | Search on this feature
Agenesis of permanent molar
MedGen UID:
869143
•Concept ID:
C4023563
•
Finding
Agenesis of secondary molar tooth.
See: Feature record | Search on this feature
Oligodontia
MedGen UID:
904670
•Concept ID:
C4082304
•
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.
See: Feature record | Search on this feature
Anhidrosis
MedGen UID:
1550
•Concept ID:
C0003028
•
Disease or Syndrome
Inability to sweat.
See: Feature record | Search on this feature
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
Abnormal fingernail morphology
MedGen UID:
867411
•Concept ID:
C4021782
•
Anatomical Abnormality
An abnormality of the fingernails.
See: Feature record | Search on this feature
Abnormal skin morphology
MedGen UID:
869110
•Concept ID:
C4023528
•
Anatomical Abnormality
Any morphological abnormality of the skin.
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
    • MeSH
      Related Medical Subject Headings
    • 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
    • PubMed (OMIM)
      Related literature resources in PubMed

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