{
    "disease_id": "DOID:0061269",
    "recommended_name": {
        "id": "DOID:0061269",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061269",
        "name": "periventricular nodular heterotopia 6",
        "description": "A periventricular nodular heterotopia that has_material_basis_in heterozygous mutation in the ERMARD gene on chromosome 6q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0014240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014240",
            "name": "periventricular nodular heterotopia 6",
            "description": "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene."
        },
        {
            "id": "MONDO:0014240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014240",
            "name": "ERMARD periventricular nodular heterotopia",
            "description": ""
        },
        {
            "id": "MONDO:0014240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014240",
            "name": "periventricular nodular heterotopia 6",
            "description": ""
        },
        {
            "id": "MONDO:0014240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014240",
            "name": "periventricular nodular heterotopia caused by mutation in ERMARD",
            "description": ""
        },
        {
            "id": "MONDO:0014240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014240",
            "name": "periventricular nodular heterotopia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014240",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014240",
            "name": "PVNH6",
            "description": ""
        },
        {
            "id": "MIM:615544",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615544",
            "name": "Periventricular nodular heterotopia 6",
            "description": "Periventricular nodular heterotopia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061269"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061269",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061269",
            "categories": []
        },
        {
            "id": "MONDO:0014240",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014240",
            "categories": []
        },
        {
            "id": "MIM:615544",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615544",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5T6L9-1",
            "uniprot_ac": "Q5T6L9",
            "uniprot_id": "EMARD_HUMAN",
            "refseq_ac": "NP_001265460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum membrane-associated RNA degradation protein",
                    "type": "recommended"
                },
                {
                    "name": "ER membrane-associated RNA degradation protein",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane-associated RNA degradation protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane-associated RNA degradation protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C6orf70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERMARD",
                    "type": "recommended"
                },
                {
                    "name": "C6orf70",
                    "type": "synonym"
                },
                {
                    "name": "ERMARD",
                    "type": "synonym"
                },
                {
                    "name": "PVNH6",
                    "type": "synonym"
                },
                {
                    "name": "dJ266L20.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T6L9-1",
            "evidence": [
                {
                    "id": "615544",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615544"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061269"
}