Search Ontology:
Human Disease
Adams-Oliver syndrome 2
- Term ID
- DOID:0061345
- Synonyms
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- AOS2
- Definition
- An Adams-Oliver syndrome that is characterized by aplasia cutis congenita and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems and that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK6 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/21820096/
- References
- Ontology
- Human Disease ( DOID:0061345 )
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Genes Involved
Zebrafish Models