Version: 8.1.0
Date: Fri Apr 18 2025
cerebrooculofacioskeletal syndrome 2
DOID:0080912
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

cerebrooculofacioskeletal syndrome 2

Definition
A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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