Details of Disease

General Information of Disease (ID: DISR37VH)

Disease Name Gaze palsy, familial horizontal, with progressive scoliosis, 2
Synonyms HGPPS2; gaze palsy, familial horizontal, with progressive scoliosis, 2
Disease Hierarchy
DISCA0OX: Horizontal gaze palsy with progressive scoliosis
DISR37VH: Gaze palsy, familial horizontal, with progressive scoliosis, 2
Disease Identifiers
MONDO ID
MONDO_0054602
UMLS CUI
C4479640
OMIM ID
617542
MedGen ID
1393733

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
DCC OT2C1SHW Limited Autosomal recessive [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.