Version: 8.0.0
Date: Tue Jan 28 2025
cerebrooculofacioskeletal syndrome 1
DOID:0080911
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

cerebrooculofacioskeletal syndrome 1

Definition
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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