{
    "disease_id": "DOID:0061246",
    "recommended_name": {
        "id": "DOID:0061246",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061246",
        "name": "periventricular nodular heterotopia 9",
        "description": "A periventricular nodular heterotopia characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030061",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030061",
            "name": "periventricular nodular heterotopia 9",
            "description": ""
        },
        {
            "id": "MONDO:0030061",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030061",
            "name": "PERIVENTRICULAR NODULAR HETEROTOPIA 9",
            "description": ""
        },
        {
            "id": "MONDO:0030061",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030061",
            "name": "PVNH9",
            "description": ""
        },
        {
            "id": "MONDO:0030061",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030061",
            "name": "periventricular nodular heterotopia 9",
            "description": ""
        },
        {
            "id": "MIM:618918",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618918",
            "name": "Periventricular nodular heterotopia 9",
            "description": "Periventricular nodular heterotopia 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061246"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061246",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061246",
            "categories": []
        },
        {
            "id": "MONDO:0030061",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030061",
            "categories": []
        },
        {
            "id": "MIM:618918",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618918",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P46821-1",
            "uniprot_ac": "P46821",
            "uniprot_id": "MAP1B_HUMAN",
            "refseq_ac": "NP_005900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated protein 1B",
                    "type": "recommended"
                },
                {
                    "name": "MAP-1B",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated protein 1B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 102",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAP1B",
                    "type": "recommended"
                },
                {
                    "name": "DFNA83",
                    "type": "synonym"
                },
                {
                    "name": "FUTSCH",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B",
                    "type": "synonym"
                },
                {
                    "name": "MAP5",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R102",
                    "type": "synonym"
                },
                {
                    "name": "PVNH9",
                    "type": "synonym"
                }
            ],
            "record_id": "P46821-1",
            "evidence": [
                {
                    "id": "618918",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618918"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061246"
}