Details of Disease

General Information of Disease (ID: DIS5KBG8)

Disease Name Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Synonyms NEDHRIT; NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DIS5KBG8: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
Disease Identifiers
MONDO ID
MONDO_0032921
UMLS CUI
C5394091
OMIM ID
618797
MedGen ID
1716098

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
RALGAPA1 OTHT5DW0 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics. 2009 Dec;94(6):414-22. doi: 10.1016/j.ygeno.2009.08.015. Epub 2009 Sep 3.