Term Name: Adams-Oliver syndrome 5
Synonyms: AOS5
Definition: An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.3.
Ontology: Human Disease [DOID:0061347]   ( DOID:0061347 )

Relationships
is a type of: Adams-Oliver syndrome autosomal dominant disease