{
    "disease_id": "DOID:0080316",
    "recommended_name": {
        "id": "DOID:0080316",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080316",
        "name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
        "description": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080316",
            "name": "Van Der Knaap disease",
            "description": ""
        },
        {
            "id": "DOID:0080316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080316",
            "name": "leukoencephalopathy with swelling and cysts",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "MLC1",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "VL",
            "description": ""
        },
        {
            "id": "MIM:604004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604004",
            "name": "Megalencephalic leukoencephalopathy with subcortical cysts 1",
            "description": "Megalencephalic leukoencephalopathy with subcortical cysts 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080316"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080316",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080316",
            "categories": []
        },
        {
            "id": "MONDO:0024555",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "categories": []
        },
        {
            "id": "MIM:604004",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604004",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T7H1-1",
            "uniprot_ac": "A0AB32T7H1",
            "uniprot_id": "A0AB32T7H1_DANRE",
            "refseq_ac": "XP_068070885",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane protein MLC1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein MLC1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mlc1",
                    "type": "recommended"
                },
                {
                    "name": "mlc1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-192n14.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T7H1-1",
            "evidence": [
                {
                    "id": "0080316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHK5-1",
            "uniprot_ac": "Q8VHK5",
            "uniprot_id": "MLC1_MOUSE",
            "refseq_ac": "NP_573504",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane protein MLC1",
                    "type": "recommended"
                },
                {
                    "name": "membrane protein MLC1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein MLC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlc1",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0027-hp",
                    "type": "synonym"
                },
                {
                    "name": "LVM",
                    "type": "synonym"
                },
                {
                    "name": "MLC",
                    "type": "synonym"
                },
                {
                    "name": "Mlc1",
                    "type": "synonym"
                },
                {
                    "name": "VL",
                    "type": "synonym"
                },
                {
                    "name": "WKL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHK5-1",
            "evidence": [
                {
                    "id": "0080316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15049-1",
            "uniprot_ac": "Q15049",
            "uniprot_id": "MLC1_HUMAN",
            "refseq_ac": "NP_055981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane protein MLC1",
                    "type": "recommended"
                },
                {
                    "name": "Megalencephalic leukoencephalopathy with subcortical cysts protein 1",
                    "type": "synonym"
                },
                {
                    "name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
                    "type": "synonym"
                },
                {
                    "name": "megalencephalic leukoencephalopathy with subcortical cysts protein 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein MLC1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein MLC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLC1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0027",
                    "type": "synonym"
                },
                {
                    "name": "LVM",
                    "type": "synonym"
                },
                {
                    "name": "MLC1",
                    "type": "synonym"
                },
                {
                    "name": "MLC",
                    "type": "synonym"
                },
                {
                    "name": "VL",
                    "type": "synonym"
                },
                {
                    "name": "WKL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15049-1",
            "evidence": [
                {
                    "id": "604004",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604004"
                },
                {
                    "id": "0080316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ABB2-1",
            "uniprot_ac": "D4ABB2",
            "uniprot_id": "D4ABB2_RAT",
            "refseq_ac": "XP_063119703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Modulator of VRAC current 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane protein MLC1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlc1",
                    "type": "recommended"
                },
                {
                    "name": "Mlc1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ABB2-1",
            "evidence": [
                {
                    "id": "0080316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080316"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080316"
}