Details of Disease

General Information of Disease (ID: DISRZTNF)

Disease Name Tooth agenesis, selective, X-linked, 1
Synonyms
hypodontia/oligodontia, X-linked, 1; STHAGX1; tooth agenesis, selective, X-linked 1, X-linked dominant; tooth agenesis caused by mutation in EDA; tooth agenesis, selective, X-linked, 1; tooth agenesis, selective, X-linked, type 1; EDA tooth agenesis
Definition Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.
Disease Hierarchy
DIS1PWC7: Tooth agenesis
DISRZTNF: Tooth agenesis, selective, X-linked, 1
Disease Identifiers
MONDO ID
MONDO_0010741
MESH ID
C567060
UMLS CUI
C1970757
OMIM ID
313500
MedGen ID
410143

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EDA OTAKS5WS Definitive X-linked [1]
------------------------------------------------------------------------------------

References

1 A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. Am J Med Genet A. 2007 Feb 15;143(4):390-4. doi: 10.1002/ajmg.a.31567.