| Metadata | |
|---|---|
| ID | DOID:0061345 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061345 Copy |
| Name | Adams-Oliver syndrome 2 |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AOS2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |