Details of Disease

General Information of Disease (ID: DIS1CIPG)

Disease Name Vertebral hypersegmentation and orofacial anomalies
Synonyms VHO
Disease Hierarchy
DISYKSRF: Genetic disease
DIS1CIPG: Vertebral hypersegmentation and orofacial anomalies
Disease Identifiers
MONDO ID
MONDO_0030871
UMLS CUI
C5436851
OMIM ID
619122
MedGen ID
1746640

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
GDF11 OTOSNMND Strong Autosomal dominant [1]
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References

1 Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18.