Details of Disease

General Information of Disease (ID: DIS6U5EL)

Disease Name Holoprosencephaly 11
Synonyms holoprosencephaly 11; CDON holoprosencephaly; HPE11; holoprosencephaly type 11; holoprosencephaly caused by mutation in CDON
Definition Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.
Disease Hierarchy
DISR35EC: Holoprosencephaly
DIS6U5EL: Holoprosencephaly 11
Disease Identifiers
MONDO ID
MONDO_0013642
UMLS CUI
C3280215
OMIM ID
614226
MedGen ID
481845

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
CDON OT81X593 Definitive Autosomal dominant [1]
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References

1 Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet. 2011 Aug 12;89(2):231-40. doi: 10.1016/j.ajhg.2011.07.001. Epub 2011 Jul 28.