{
    "disease_id": "DOID:0111272",
    "recommended_name": {
        "id": "DOID:0111272",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111272",
        "name": "occipital horn syndrome",
        "description": "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease."
    },
    "synonyms": [
        {
            "id": "DOID:0111272",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111272",
            "name": "EDS IX",
            "description": ""
        },
        {
            "id": "DOID:0111272",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111272",
            "name": "Ehlers-Danlos syndrome type 9",
            "description": ""
        },
        {
            "id": "DOID:0111272",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111272",
            "name": "Ehlers-Danlos syndrome type IX",
            "description": ""
        },
        {
            "id": "DOID:0111272",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111272",
            "name": "X-linked cutis laxa",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "occipital horn syndrome",
            "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."
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "EDS IX (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "EDS IX",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "Ehlers-Danlos syndrome, occipital horn type (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "Ehlers-Danlos syndrome, occipital horn type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "Ehlers-Danlos syndrome, occipital horn type",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "EDS IX, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "Ehlers-Danlos syndrome type IX",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "occipital horn syndrome; OHS",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "occipital horn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "X-linked cutis laxa",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "EDS9, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "cutis laxa, X-linked, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "Ehlers-Danlos syndrome type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "EDS9",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "OHS",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "cutis laxa X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "cutis laxa, X-linked",
            "description": ""
        },
        {
            "id": "MIM:304150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304150",
            "name": "Occipital horn syndrome",
            "description": "Occipital horn syndrome"
        }
    ]
}