| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.omim.org/entry/304150 |
| Similar Terms | |
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1 genes associated with the occipital horn syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| ATP7A | ATPase, Cu++ transporting, alpha polypeptide |