Details of Disease

General Information of Disease (ID: DISYU31H)

Disease Name Trichohepatoneurodevelopmental syndrome
Synonyms TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS
Disease Hierarchy
DISYKSRF: Genetic disease
DISYU31H: Trichohepatoneurodevelopmental syndrome
Disease Identifiers
MONDO ID
MONDO_0032645
UMLS CUI
C4748898
OMIM ID
618268
MedGen ID
1648322

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
CCDC47 OTUIN61P Strong Autosomal recessive [1]
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References

1 Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.