{
    "disease_id": "DOID:0111272",
    "recommended_name": {
        "id": "DOID:0111272",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0111272",
            "name": "EDS IX",
            "description": ""
        },
        {
            "id": "DOID:0111272",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111272",
            "name": "Ehlers-Danlos syndrome type 9",
            "description": ""
        },
        {
            "id": "DOID:0111272",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111272",
            "name": "Ehlers-Danlos syndrome type IX",
            "description": ""
        },
        {
            "id": "DOID:0111272",
            "resource": "Disease Ontology",
            "url": "https://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), 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": "occipital horn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010572",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "name": "occipital horn syndrome, X-linked recessive",
            "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": "EDS9",
            "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": "Ehlers-Danlos syndrome, occipital horn type (formerly)",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111272"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111272",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111272",
            "categories": []
        },
        {
            "id": "MONDO:0010572",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010572",
            "categories": []
        },
        {
            "id": "MIM:304150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/304150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QEG1-1",
            "uniprot_ac": "F1QEG1",
            "uniprot_id": "F1QEG1_DANRE",
            "refseq_ac": "XP_005173182",
            "glycoprotein": "no",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "P-type Cu(+) transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 1 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "atp7a",
                    "type": "recommended"
                },
                {
                    "name": "atp7a",
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                },
                {
                    "name": "cal",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc43e01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153422",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158633",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QEG1-1",
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                    "id": "0111272",
                    "database": "AGR",
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "Copper-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 2",
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                },
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                }
            ],
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                    "name": "atp7b",
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                }
            ],
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                    "id": "0111272",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64430-1",
            "uniprot_ac": "Q64430",
            "uniprot_id": "ATP7A_MOUSE",
            "refseq_ac": "NP_033856",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Copper-transporting ATPase 1",
                    "type": "recommended"
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                    "name": "7.2.2.8",
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                },
                {
                    "name": "ATPase, Cu++ transporting, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 1",
                    "type": "synonym"
                },
                {
                    "name": "Menkes disease-associated protein homolog",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "copper pump 1",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "menkes disease-associated protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp7a",
                    "type": "recommended"
                },
                {
                    "name": "Atp7a",
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                },
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                    "name": "Mnk",
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            ]
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        {
            "uniprot_canonical_ac": "Q64446-1",
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            "refseq_ac": "NP_031537",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Copper-transporting ATPase 2",
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                    "type": "synonym"
                },
                {
                    "name": "Copper pump 2",
                    "type": "synonym"
                },
                {
                    "name": "Wilson disease-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Wilson protein",
                    "type": "synonym"
                },
                {
                    "name": "copper pump 2",
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                {
                    "name": "copper-transporting ATPase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 2",
                    "type": "synonym"
                },
                {
                    "name": "toxic milk",
                    "type": "synonym"
                },
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                }
            ],
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                    "name": "Atp7b",
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                },
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                },
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                    "name": "Atp7b",
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                    "name": "WND",
                    "type": "synonym"
                },
                {
                    "name": "Wnd",
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                    "name": "tx",
                    "type": "synonym"
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                    "id": "0111272",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q04656-1",
            "uniprot_ac": "Q04656",
            "uniprot_id": "ATP7A_HUMAN",
            "refseq_ac": "NP_000043",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Copper-transporting ATPase 1",
                    "type": "recommended"
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                {
                    "name": "ATPase, Cu++ transporting, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 1",
                    "type": "synonym"
                },
                {
                    "name": "Cu++-transporting P-type ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Menkes disease-associated protein",
                    "type": "synonym"
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                {
                    "name": "copper pump 1",
                    "type": "synonym"
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                {
                    "name": "copper-transporting ATPase 1 isoform 1",
                    "type": "synonym"
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                {
                    "name": "copper-transporting ATPase 1",
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                }
            ],
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                {
                    "name": "ATP7A",
                    "type": "recommended"
                },
                {
                    "name": "ATP7A",
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                },
                {
                    "name": "DSMAX",
                    "type": "synonym"
                },
                {
                    "name": "HMNX",
                    "type": "synonym"
                },
                {
                    "name": "MC1",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
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                {
                    "name": "MNK",
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                    "id": "0111272",
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            "uniprot_canonical_ac": "P38995-1",
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            "refseq_ac": "NP_010556",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Copper-transporting ATPase",
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                    "name": "7.2.2.8",
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                {
                    "name": "Cu(2+)-ATPase",
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                {
                    "name": "Cu(2+)-transporting P-type ATPase CCC2",
                    "type": "synonym"
                }
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                {
                    "name": "CCC2",
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "Copper-transporting ATPase 1",
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                    "name": "ATPase, Cu++ transporting, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 1",
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                },
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                    "name": "Menkes disease-associated protein homolog",
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                    "name": "copper pump 1",
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                    "name": "copper-transporting ATPase 1",
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                    "id": "0111272",
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                }
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                    "name": "Copper-transporting ATPase 2",
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                    "name": "Copper pump 2",
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                {
                    "name": "Pineal night-specific ATPase",
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                },
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                    "name": "Wilson disease-associated protein homolog",
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            ],
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                    "name": "Atp7b",
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                    "name": "Pina",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
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                }
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                    "name": "P-type Cu(+) transporter",
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                    "name": "CG1886-PC",
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                    "name": "ATP7",
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                    "name": "dATP7",
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                    "name": "dmATP7",
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                {
                    "name": "lincRNA.S9122",
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                }
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                    "id": "0111272",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
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                    "name": "Cochlin",
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                },
                {
                    "name": "COCH-5B2",
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                },
                {
                    "name": "coagulation factor C homolog, cochlin (Limulus polyphemus)",
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                {
                    "name": "cochlin isoform b precursor",
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                }
            ],
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                    "name": "COCH",
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                    "name": "COCH",
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                    "name": "DFNA9",
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                },
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                    "name": "DFNB110",
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                    "name": "PRO294",
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                    "id": "0111272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35670-1",
            "uniprot_ac": "P35670",
            "uniprot_id": "ATP7B_HUMAN",
            "refseq_ac": "NP_001005918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Copper-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Cu(2+)- transporting, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Cu++ transporting, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 2",
                    "type": "synonym"
                },
                {
                    "name": "Wilson disease-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "copper pump 2",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 2",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting protein ATP7B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP7B",
                    "type": "recommended"
                },
                {
                    "name": "ATP7B",
                    "type": "synonym"
                },
                {
                    "name": "PWD",
                    "type": "synonym"
                },
                {
                    "name": "WC1",
                    "type": "synonym"
                },
                {
                    "name": "WD",
                    "type": "synonym"
                },
                {
                    "name": "WND",
                    "type": "synonym"
                }
            ],
            "record_id": "P35670-1",
            "evidence": [
                {
                    "id": "0111272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111272"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111272"
}