Details of Disease

General Information of Disease (ID: DIS9GYP0)

Disease Name Hydrolethalus syndrome 1
Synonyms HLS1; hydrolethalus syndrome; hydrolethalus syndrome 1; hydrolethalus syndrome type 1; hydrolethalus syndrome caused by mutation in HYLS1; HYLS1 hydrolethalus syndrome
Definition Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.
Disease Hierarchy
DISX56R3: Hydrolethalus syndrome
DIS9GYP0: Hydrolethalus syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009365
UMLS CUI
C1856016
OMIM ID
236680
MedGen ID
343455

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
HYLS1 OT3SW5UC Definitive Autosomal recessive [1]
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References

1 Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. Hum Mol Genet. 2005 Jun 1;14(11):1475-88. doi: 10.1093/hmg/ddi157. Epub 2005 Apr 20.