Details of Disease

General Information of Disease (ID: DISKMZXP)

Disease Name Hengel-Maroofian-Schols syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISKMZXP: Hengel-Maroofian-Schols syndrome
Disease Identifiers
MONDO ID
MONDO_0859208
UMLS CUI
C5562032
OMIM ID
619641
MedGen ID
1794242

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
BCAS3 OTDVAX6B Strong Autosomal recessive [1]
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References

1 A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: a case report and review of literature. Am J Med Genet A. 2011 Dec;155A(12):3082-6. doi: 10.1002/ajmg.a.34307. Epub 2011 Nov 3.