Details of Disease

General Information of Disease (ID: DIS7OXG7)

Disease Name Odontochondrodysplasia
Disease Hierarchy
DISDTAJK: Spondylometaphyseal dysplasia
DIS7OXG7: Odontochondrodysplasia
Disease Identifiers
MONDO ID
MONDO_0031169
MESH ID
C535792
UMLS CUI
C2745953
MedGen ID
411198
SNOMED CT ID
717823001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFT20 OTKJS2BZ Strong Biomarker [1]
TRIP11 OT4FJEAR Strong Genetic Variation [1]
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References

1 Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.JCI Insight. 2019 Feb 7;4(3):e124701. doi: 10.1172/jci.insight.124701.