| Metadata | |
|---|---|
| ID | DOID:0070692 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070692 Copy |
| Name | Davis-Wells syndrome |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621566 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |