Term Name: Adams-Oliver syndrome 4
Synonyms: AOS4
Definition: An Adams-Oliver syndrome that is characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes and that has_material_basis_in homozygous mutation in the EOGT gene on chromosome 3p14.1.
Ontology: Human Disease [DOID:0061346]   ( DOID:0061346 )

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