Search Ontology:
Human Disease
Davis-Wells syndrome
- Term ID
- DOID:0070692
- Synonyms
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- Definition
- A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31. https://pmc.ncbi.nlm.nih.gov/articles/PMC11910193/
- References
- Ontology
- Human Disease ( DOID:0070692 )
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Genes Involved
Zebrafish Models