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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): Gene(s) directly associated with this condition or phenotype.	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.

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Oligodontia of primary teeth

MedGen UID:: 868598
•Concept ID:: C4022997
•: Finding

Reduced number of primary teeth.

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Agenesis of permanent molar

MedGen UID:: 869143
•Concept ID:: C4023563
•: Finding

Agenesis of secondary molar tooth.

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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.

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Anhidrosis

MedGen UID:: 1550
•Concept ID:: C0003028
•: Disease or Syndrome

Inability to sweat.

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Abnormal hair morphology

MedGen UID:: 56381
•Concept ID:: C0157733
•: Finding

An abnormality of the hair.

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Abnormal fingernail morphology

MedGen UID:: 867411
•Concept ID:: C4021782
•: Anatomical Abnormality

An abnormality of the fingernails.

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Abnormal skin morphology

MedGen UID:: 869110
•Concept ID:: C4023528
•: Anatomical Abnormality

Any morphological abnormality of the skin.

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Abnormality of head or neck
Abnormality of the integument

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