Details of Disease

General Information of Disease (ID: DISQPHGF)

Disease Name Urofacial syndrome 2
Synonyms UFS2; LRIG2 Ochoa syndrome; Ochoa syndrome caused by mutation in LRIG2; urofacial syndrome 2; urofacial syndrome type 2
Definition Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.
Disease Hierarchy
DIS1MDEZ: Ochoa syndrome
DISQPHGF: Urofacial syndrome 2
Disease Identifiers
MONDO ID
MONDO_0014049
UMLS CUI
C3554520
OMIM ID
615112
MedGen ID
767434

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
LRIG2 OTDUBLIH Strong Autosomal recessive [1]
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References

1 LRIG2 mutations cause urofacial syndrome. Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11.