|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. (Orphanet Rare Disease Ontology, Orphanet_198)|
|Downloads & Tools|
1 genes associated with the occipital horn syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
|ATP7A||ATPase, Cu++ transporting, alpha polypeptide|