{
    "disease_id": "DOID:0111196",
    "recommended_name": {
        "id": "DOID:0111196",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111196",
        "name": "X-linked distal spinal muscular atrophy 3",
        "description": "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "ATP7A-related distal motor neuropathy",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "DSMAX",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "SMAX3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked dHMN3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked dSMA3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked distal hereditary motor neuropathy type 3",
            "description": ""
        },
        {
            "id": "DOID:0111196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "name": "X-linked recessive distal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked distal spinal muscular atrophy type 3",
            "description": "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males."
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "ATP7A spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "ATP7A-related distal motor neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "DSMAX",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "SMAX3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dHMN type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dHMN3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dSMA type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked dSMA3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "X-linked distal hereditary motor neuropathy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy caused by mutation in ATP7A",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy, distal, X-linked 3, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy, distal, X-linked type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "name": "spinal muscular atrophy, distal, X-linked 3",
            "description": ""
        },
        {
            "id": "MIM:300489",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300489",
            "name": "Neuronopathy, distal hereditary motor, X-linked",
            "description": "Neuronopathy, distal hereditary motor, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111196"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111196",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111196",
            "categories": []
        },
        {
            "id": "MONDO:0010338",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010338",
            "categories": []
        },
        {
            "id": "MIM:300489",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300489",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QEG1-1",
            "uniprot_ac": "F1QEG1",
            "uniprot_id": "F1QEG1_DANRE",
            "refseq_ac": "XP_005173182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type Cu(+) transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp7a",
                    "type": "recommended"
                },
                {
                    "name": "atp7a",
                    "type": "synonym"
                },
                {
                    "name": "cal",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc43e01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153422",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158633",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QEG1-1",
            "evidence": [
                {
                    "id": "0111196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64430-1",
            "uniprot_ac": "Q64430",
            "uniprot_id": "ATP7A_MOUSE",
            "refseq_ac": "NP_033856",
            "glycoprotein": "yes",
            "species": [
                {
                    "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"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Cu++ transporting, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 1",
                    "type": "synonym"
                },
                {
                    "name": "Menkes disease-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Menkes protein",
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "MNK",
                    "type": "synonym"
                },
                {
                    "name": "Mnk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64430-1",
            "evidence": [
                {
                    "id": "0111196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111196"
                }
            ]
        },
        {
            "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]"
                }
            ],
            "protein_names": [
                {
                    "name": "Copper-transporting ATPase 1",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "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"
                },
                {
                    "name": "copper pump 1",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "copper-transporting ATPase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP7A",
                    "type": "recommended"
                },
                {
                    "name": "ATP7A",
                    "type": "synonym"
                },
                {
                    "name": "DSMAX",
                    "type": "synonym"
                },
                {
                    "name": "HMNX",
                    "type": "synonym"
                },
                {
                    "name": "MC1",
                    "type": "synonym"
                },
                {
                    "name": "MK",
                    "type": "synonym"
                },
                {
                    "name": "MNK",
                    "type": "synonym"
                },
                {
                    "name": "SMAX3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04656-1",
            "evidence": [
                {
                    "id": "300489",
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                    "url": "https://www.omim.org/entry/300489"
                },
                {
                    "id": "0111196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38995-1",
            "uniprot_ac": "P38995",
            "uniprot_id": "ATU2_YEAST",
            "refseq_ac": "NP_010556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Copper-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "Cu(2+)-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Cu(2+)-transporting P-type ATPase CCC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCC2",
                    "type": "recommended"
                },
                {
                    "name": "CCC2",
                    "type": "synonym"
                },
                {
                    "name": "D9954.6",
                    "type": "synonym"
                }
            ],
            "record_id": "P38995-1",
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                {
                    "id": "0111196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111196"
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        },
        {
            "uniprot_canonical_ac": "P70705-1",
            "uniprot_ac": "P70705",
            "uniprot_id": "ATP7A_RAT",
            "refseq_ac": "NP_434690",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Copper-transporting ATPase 1",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Cu++ transporting, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 1",
                    "type": "synonym"
                },
                {
                    "name": "Menkes disease-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "copper pump 1",
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "Mnk",
                    "type": "synonym"
                }
            ],
            "record_id": "P70705-1",
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                {
                    "id": "0111196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYT4-1",
            "uniprot_ac": "Q9VYT4",
            "uniprot_id": "Q9VYT4_DROME",
            "refseq_ac": "NP_001259466",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type Cu(+) transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "ATP7, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ATP7-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG1886-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP7",
                    "type": "recommended"
                },
                {
                    "name": "ATP7",
                    "type": "synonym"
                },
                {
                    "name": "Atp7A",
                    "type": "synonym"
                },
                {
                    "name": "Atp7",
                    "type": "synonym"
                },
                {
                    "name": "CG1886",
                    "type": "synonym"
                },
                {
                    "name": "DmATP7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1886",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1886",
                    "type": "synonym"
                },
                {
                    "name": "atp7",
                    "type": "synonym"
                },
                {
                    "name": "dATP7",
                    "type": "synonym"
                },
                {
                    "name": "dmATP7",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9122",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYT4-1",
            "evidence": [
                {
                    "id": "0111196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111196"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111196"
}