{
    "disease_id": "DOID:0061270",
    "recommended_name": {
        "id": "DOID:0061270",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061270",
        "name": "periventricular nodular heterotopia 7",
        "description": "A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures that has_material_basis_in heterozygous mutation in the NEDD4L gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "name": "periventricular nodular heterotopia 7",
            "description": "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene."
        },
        {
            "id": "MONDO:0014966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "name": "NEDD4L periventricular nodular heterotopia",
            "description": ""
        },
        {
            "id": "MONDO:0014966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "name": "PVNH7",
            "description": ""
        },
        {
            "id": "MONDO:0014966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "name": "periventricular nodular heterotopia 7",
            "description": ""
        },
        {
            "id": "MONDO:0014966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "name": "periventricular nodular heterotopia 7; PVNH7",
            "description": ""
        },
        {
            "id": "MONDO:0014966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "name": "periventricular nodular heterotopia caused by mutation in NEDD4L",
            "description": ""
        },
        {
            "id": "MONDO:0014966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "name": "periventricular nodular heterotopia type 7",
            "description": ""
        },
        {
            "id": "MIM:617201",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617201",
            "name": "Periventricular nodular heterotopia 7",
            "description": "Periventricular nodular heterotopia 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061270"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061270",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061270",
            "categories": []
        },
        {
            "id": "MONDO:0014966",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014966",
            "categories": []
        },
        {
            "id": "MIM:617201",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617201",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96PU5-1",
            "uniprot_ac": "Q96PU5",
            "uniprot_id": "NED4L_HUMAN",
            "refseq_ac": "NP_001138436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase NEDD4-like",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase NEDD4-like isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase NED4L",
                    "type": "synonym"
                },
                {
                    "name": "NEDD4.2",
                    "type": "synonym"
                },
                {
                    "name": "Nedd4-2",
                    "type": "synonym"
                },
                {
                    "name": "neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase Rsp5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEDD4L",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0439",
                    "type": "synonym"
                },
                {
                    "name": "NEDD4-2",
                    "type": "synonym"
                },
                {
                    "name": "NEDD4.2",
                    "type": "synonym"
                },
                {
                    "name": "NEDD4L",
                    "type": "synonym"
                },
                {
                    "name": "NEDL3",
                    "type": "synonym"
                },
                {
                    "name": "PVNH7",
                    "type": "synonym"
                },
                {
                    "name": "RSP5",
                    "type": "synonym"
                },
                {
                    "name": "hNEDD4-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PU5-1",
            "evidence": [
                {
                    "id": "617201",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617201"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061270"
}