Details of Disease

General Information of Disease (ID: DIS3RJID)

Disease Name Periventricular nodular heterotopia 6
Synonyms PVNH6; periventricular nodular heterotopia 6; periventricular nodular heterotopia type 6; ERMARD periventricular nodular heterotopia; periventricular nodular heterotopia caused by mutation in ERMARD
Definition Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.
Disease Hierarchy
DISU3ZRI: Periventricular nodular heterotopia
DIS3RJID: Periventricular nodular heterotopia 6
Disease Identifiers
MONDO ID
MONDO_0014240
UMLS CUI
C3809872
OMIM ID
615544
MedGen ID
816202

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
ERMARD OTRKAQ2L Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.