Details of Disease

General Information of Disease (ID: DIS6ZEUS)

Disease Name Teebi hypertelorism syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DIS6ZEUS: Teebi hypertelorism syndrome
Disease Identifiers
MONDO ID
MONDO_0030639
MESH ID
C538387
UMLS CUI
C0796179
OMIM ID
145420
MedGen ID
208673
SNOMED CT ID
724284005

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
SPECC1L OT3WGZ73 Limited Genetic Variation [1]
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References

1 Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. Am J Med Genet A. 2015 Nov;167A(11):2497-502. doi: 10.1002/ajmg.a.37217. Epub 2015 Jun 25.