{
    "disease_id": "DOID:0110820",
    "recommended_name": {
        "id": "DOID:0110820",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110820",
        "name": "hereditary spastic paraplegia 75",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110820",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110820",
            "name": "SPG75",
            "description": ""
        },
        {
            "id": "DOID:0110820",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110820",
            "name": "autosomal recessive spastic paraplegia 75",
            "description": ""
        },
        {
            "id": "DOID:0110820",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110820",
            "name": "autosomal recessive spastic paraplegia type 75",
            "description": ""
        },
        {
            "id": "MONDO:0014729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "name": "hereditary spastic paraplegia 75",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene."
        },
        {
            "id": "MONDO:0014729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "name": "MAG hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "name": "SPG75",
            "description": ""
        },
        {
            "id": "MONDO:0014729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "name": "autosomal recessive spastic paraplegia type 75",
            "description": ""
        },
        {
            "id": "MONDO:0014729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "name": "hereditary spastic paraplegia caused by mutation in MAG",
            "description": ""
        },
        {
            "id": "MONDO:0014729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "name": "hereditary spastic paraplegia type 75",
            "description": ""
        },
        {
            "id": "MONDO:0014729",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "name": "spastic paraplegia 75, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:616680",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616680",
            "name": "Spastic paraplegia 75, autosomal recessive",
            "description": "Spastic paraplegia 75, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110820"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110820",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110820",
            "categories": []
        },
        {
            "id": "MONDO:0014729",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014729",
            "categories": []
        },
        {
            "id": "MIM:616680",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616680",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QSA4-1",
            "uniprot_ac": "F1QSA4",
            "uniprot_id": "F1QSA4_DANRE",
            "refseq_ac": "NP_001007063",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin-associated glycoprotein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Myelin-associated glycoprotein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myelin-associated glycoprotein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sialic-acid binding protein-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mag",
                    "type": "recommended"
                },
                {
                    "name": "mag",
                    "type": "synonym"
                },
                {
                    "name": "siglec-4",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QSA4-1",
            "evidence": [
                {
                    "id": "0110820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20917-1",
            "uniprot_ac": "P20917",
            "uniprot_id": "MAG_MOUSE",
            "refseq_ac": "NP_001333015",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin-associated glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "Siglec-4a",
                    "type": "synonym"
                },
                {
                    "name": "myelin-associated glycoprotein isoform 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mag",
                    "type": "recommended"
                },
                {
                    "name": "Gma",
                    "type": "synonym"
                },
                {
                    "name": "Mag",
                    "type": "synonym"
                },
                {
                    "name": "siglec-4a",
                    "type": "synonym"
                }
            ],
            "record_id": "P20917-1",
            "evidence": [
                {
                    "id": "0110820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20916-1",
            "uniprot_ac": "P20916",
            "uniprot_id": "MAG_HUMAN",
            "refseq_ac": "NP_001186145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin-associated glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "Siglec-4a",
                    "type": "synonym"
                },
                {
                    "name": "myelin-associated glycoprotein isoform c",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid binding Ig-like lectin 4A",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid-binding immunoglobulin-like lectin 4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAG",
                    "type": "recommended"
                },
                {
                    "name": "GMA",
                    "type": "synonym"
                },
                {
                    "name": "MAG",
                    "type": "synonym"
                },
                {
                    "name": "S-MAG",
                    "type": "synonym"
                },
                {
                    "name": "SIGLEC-4A",
                    "type": "synonym"
                },
                {
                    "name": "SIGLEC4A",
                    "type": "synonym"
                },
                {
                    "name": "SIGLEC4",
                    "type": "synonym"
                },
                {
                    "name": "SPG75",
                    "type": "synonym"
                }
            ],
            "record_id": "P20916-1",
            "evidence": [
                {
                    "id": "616680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616680"
                },
                {
                    "id": "0110820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07722-1",
            "uniprot_ac": "P07722",
            "uniprot_id": "MAG_RAT",
            "refseq_ac": "NP_058886",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin-associated glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "1B236",
                    "type": "synonym"
                },
                {
                    "name": "Brain neuron cytoplasmic protein 3",
                    "type": "synonym"
                },
                {
                    "name": "S-MAG (C-term.)",
                    "type": "synonym"
                },
                {
                    "name": "Sialic acid-binding Ig-like lectin 4a",
                    "type": "synonym"
                },
                {
                    "name": "Siglec-4a",
                    "type": "synonym"
                },
                {
                    "name": "brain neuron cytoplasmic protein 3",
                    "type": "synonym"
                },
                {
                    "name": "myelin-associated glycoprotein precursor",
                    "type": "synonym"
                },
                {
                    "name": "sialic acid-binding Ig-like lectin 4a",
                    "type": "synonym"
                },
                {
                    "name": "siglec-4a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mag",
                    "type": "recommended"
                },
                {
                    "name": "1B236",
                    "type": "synonym"
                },
                {
                    "name": "Mag",
                    "type": "synonym"
                }
            ],
            "record_id": "P07722-1",
            "evidence": [
                {
                    "id": "0110820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110820"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08554-1",
            "uniprot_ac": "Q08554",
            "uniprot_id": "DSC1_HUMAN",
            "refseq_ac": "NP_004939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmocollin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 1",
                    "type": "synonym"
                },
                {
                    "name": "DG2/DG3",
                    "type": "synonym"
                },
                {
                    "name": "Desmosomal glycoprotein 2/3",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 1",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin-1 isoform Dsc1b precursor",
                    "type": "synonym"
                },
                {
                    "name": "desmosomal glycoprotein 2/3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSC1",
                    "type": "recommended"
                },
                {
                    "name": "CDHF1",
                    "type": "synonym"
                },
                {
                    "name": "DG2/DG3",
                    "type": "synonym"
                },
                {
                    "name": "DSC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08554-1",
            "evidence": [
                {
                    "id": "0110820",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110820"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110820"
}