Details of Disease

General Information of Disease (ID: DIS6DUYV)

Disease Name Cranioectodermal dysplasia 2
Synonyms
CRANIOECTODERMAL dysplasia 2; CED2; cranioectodermal dysplasia 2; WDR35 cranioectodermal dysplasia; Cranioectodermal dysplasia type 2; cranioectodermal dysplasia caused by mutation in WDR35; WDR35-related cranioectodermal dysplasia
Definition Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.
Disease Hierarchy
DISW7Y64: Cranioectodermal dysplasia
DIS6DUYV: Cranioectodermal dysplasia 2
Disease Identifiers
MONDO ID
MONDO_0013323
UMLS CUI
C3150874
OMIM ID
613610
MedGen ID
462224

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
WDR35 OTAFVPBO Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.