Details of Disease

General Information of Disease (ID: DIS6VOYR)

Disease Name Familial scaphocephaly syndrome
Disease Hierarchy
DISEUVBK: Syndromic craniosynostosis
DIS6VOYR: Familial scaphocephaly syndrome
Disease Identifiers
MONDO ID
MONDO_0015704
UMLS CUI
C3267076
MedGen ID
797875
Orphanet ID
169163

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
FGFR2 TTGJVQM Strong Biomarker [1]
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References

1 Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.