Details of Disease

General Information of Disease (ID: DISCXF9N)

Disease Name Atypical dentin dysplasia due to SMOC2 deficiency
Synonyms dentin dysplasia type 1 with microdontia and shape anomalies
Disease Hierarchy
DISS0DLW: Dentin dysplasia type I
DISCXF9N: Atypical dentin dysplasia due to SMOC2 deficiency
Disease Identifiers
MONDO ID
MONDO_0017819
UMLS CUI
C5190802
MedGen ID
1673452
Orphanet ID
314721
SNOMED CT ID
783059004

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
SMOC2 OTK1EQ49 Supportive Autosomal recessive [1]
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References

1 Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Am J Hum Genet. 2011 Dec 9;89(6):773-81. doi: 10.1016/j.ajhg.2011.11.002.