Details of Disease | DrugMAP

General Information of Disease (ID: DISBU3V7)

Disease Name	Teebi hypertelorism syndrome 2
Synonyms	TBHS2; Teebi hypertelorism syndrome 2
Disease Hierarchy	DIS6ZEUS: Teebi hypertelorism syndrome DISBU3V7: Teebi hypertelorism syndrome 2
Disease Identifiers	MONDO ID MONDO_0030674 UMLS CUI C5676911 OMIM ID 619736 MedGen ID 1809276

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
CDH11	TTRGWZC	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDH11	OTIZKPTF	Strong	Autosomal dominant	[1]
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References

1	Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3.