Adams-Oliver syndrome 4

Term ID

DOID:0061346

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. https://pubmed.ncbi.nlm.nih.gov/23522784/

References

• MIM:615297

Ontology

Human Disease   ( DOID:0061346 )