occipital horn syndrome Gene Set

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
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Genes

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