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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

MIM:621566

SKOS

exactMatch MIM:621566

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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