General Information of Disease (ID: DISBXWAX)

Disease Name Tooth disorder
Synonyms calcareous tooth disease or disorder; calcareous tooth disease; disease of calcareous tooth; dental disorder; disorder of calcareous tooth; disease or disorder of calcareous tooth; tooth disorder
Definition A disease involving the calcareous tooth.
Disease Hierarchy
DISX82BI: Mouth disorder
DISWD40R: Disease
DIS5PU87: Skeletal system disorder
DISBXWAX: Tooth disorder
Disease Identifiers
MONDO ID
MONDO_0006999
MESH ID
D014076
UMLS CUI
C0040435
MedGen ID
11852
SNOMED CT ID
234947003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RHOA TTP2U16 Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGD4 OTYXJQCW Strong Genetic Variation [2]
GDAP1 OTQE1O25 Strong Genetic Variation [3]
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References

1 Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30.
2 A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc.
3 Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.Neuromuscul Disord. 2004 Apr;14(4):261-4. doi: 10.1016/j.nmd.2004.01.003.