{
    "disease_id": "DOID:0110738",
    "recommended_name": {
        "id": "DOID:0110738",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110738",
        "name": "neurodegeneration with brain iron accumulation 4",
        "description": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110738",
            "name": "Neurodegeneration with brain iron accumulation due to C19orf12 mutation",
            "description": ""
        },
        {
            "id": "DOID:0110738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110738",
            "name": "MPAN",
            "description": ""
        },
        {
            "id": "DOID:0110738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110738",
            "name": "Mitochondrial Protein-Associated Neurodegeneration",
            "description": ""
        },
        {
            "id": "DOID:0110738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110738",
            "name": "NBIA due to C19orf12 mutation",
            "description": ""
        },
        {
            "id": "DOID:0110738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110738",
            "name": "NBIA4",
            "description": ""
        },
        {
            "id": "DOID:0110738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110738",
            "name": "Neurodegeneration with brain iron accumulation type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "neurodegeneration with brain iron accumulation 4",
            "description": "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities."
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "C19orf12 neurodegeneration with brain iron accumulation",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "MPAN",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "NBIA due to C19orf12 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "NBIA4",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "mitochondrial Protein-associated neurodegeneration",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "neurodegeneration with brain iron accumulation 4",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "neurodegeneration with brain iron accumulation caused by mutation in C19orf12",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "neurodegeneration with brain iron accumulation due to C19orf12 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013674",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "name": "neurodegeneration with brain iron accumulation type 4",
            "description": ""
        },
        {
            "id": "MIM:614298",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614298",
            "name": "Neurodegeneration with brain iron accumulation 4",
            "description": "Neurodegeneration with brain iron accumulation 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110738"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110738",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110738",
            "categories": []
        },
        {
            "id": "MONDO:0013674",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013674",
            "categories": []
        },
        {
            "id": "MIM:614298",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614298",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q1L990-1",
            "uniprot_ac": "Q1L990",
            "uniprot_id": "CS012_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C19orf12 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "si:ch211-238a12.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112052",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L990-1",
            "evidence": [
                {
                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IF73-1",
            "uniprot_ac": "A0A0R4IF73",
            "uniprot_id": "A0A0R4IF73_DANRE",
            "refseq_ac": "XP_001343826",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C19orf12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein C19orf12 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:ch211-260e23.7",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-260e23.7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IF73-1",
            "evidence": [
                {
                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1RM27-1",
            "uniprot_ac": "A0A8M1RM27",
            "uniprot_id": "A0A8M1RM27_DANRE",
            "refseq_ac": "NP_001373680",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Protein C19orf12 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein C19orf12 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:ch211-260e23.8",
                    "type": "recommended"
                },
                {
                    "name": "c19orf12b3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-260e23.8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RM27-1",
            "evidence": [
                {
                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WUR0-1",
            "uniprot_ac": "Q8WUR0",
            "uniprot_id": "CS012_MOUSE",
            "refseq_ac": "NP_001078854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C19orf12 homolog",
                    "type": "recommended"
                },
                {
                    "name": "protein C19orf12 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "1600014C10Rik",
                    "type": "recommended"
                },
                {
                    "name": "1600014C10Rik",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NSK7-4",
            "uniprot_ac": "Q9NSK7",
            "uniprot_id": "CS012_HUMAN",
            "refseq_ac": "NP_001242975",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein C19orf12",
                    "type": "recommended"
                },
                {
                    "name": "membrane protein-associated neurodegeneration",
                    "type": "synonym"
                },
                {
                    "name": "neurodegeneration with brain iron accumulation 3",
                    "type": "synonym"
                },
                {
                    "name": "protein C19orf12 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein C19orf12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C19orf12",
                    "type": "recommended"
                },
                {
                    "name": "C19orf12",
                    "type": "synonym"
                },
                {
                    "name": "MPAN",
                    "type": "synonym"
                },
                {
                    "name": "NBIA3",
                    "type": "synonym"
                },
                {
                    "name": "NBIA4",
                    "type": "synonym"
                },
                {
                    "name": "SPG43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NSK7-4",
            "evidence": [
                {
                    "id": "614298",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614298"
                },
                {
                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZWS2-1",
            "uniprot_ac": "D3ZWS2",
            "uniprot_id": "D3ZWS2_RAT",
            "refseq_ac": "XP_006228976",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Similar to human chromosome 19 open reading frame 12",
                    "type": "synonym"
                },
                {
                    "name": "protein C19orf12 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1h19orf12",
                    "type": "recommended"
                },
                {
                    "name": "C1h19orf12",
                    "type": "synonym"
                },
                {
                    "name": "LOC690000",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZWS2-1",
            "evidence": [
                {
                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHT9-1",
            "uniprot_ac": "Q9VHT9",
            "uniprot_id": "NAZO_DROME",
            "refseq_ac": "NP_649778",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Nazo",
                    "type": "recommended"
                },
                {
                    "name": "CG11671-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nazo-PA",
                    "type": "synonym"
                },
                {
                    "name": "nazo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nazo",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GM23845",
                    "type": "synonym"
                },
                {
                    "name": "CG11671",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11671",
                    "type": "synonym"
                },
                {
                    "name": "Nazo",
                    "type": "synonym"
                },
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                    "name": "nazo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHT9-1",
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                {
                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9W569-1",
            "uniprot_ac": "Q9W569",
            "uniprot_id": "Q9W569_DROME",
            "refseq_ac": "NP_569932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3740-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EG:171E4.4",
                    "type": "recommended"
                },
                {
                    "name": "CG3740",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3740",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3740",
                    "type": "synonym"
                },
                {
                    "name": "EG:171E4.4",
                    "type": "synonym"
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                {
                    "name": "dC19orf12",
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                    "id": "0110738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110738"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110738"
}