{
    "disease_id": "DOID:0070755",
    "recommended_name": {
        "id": "DOID:0070755",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070755",
        "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
        "description": "An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070755",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070755",
            "name": "NDMSCA",
            "description": ""
        },
        {
            "id": "MONDO:0060621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060621",
            "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060621",
            "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0060621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060621",
            "name": "NDMSCA",
            "description": ""
        },
        {
            "id": "MIM:617802",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617802",
            "name": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
            "description": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070755"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070755",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070755",
            "categories": []
        },
        {
            "id": "MONDO:0060621",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060621",
            "categories": []
        },
        {
            "id": "MIM:617802",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617802",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P26640-1",
            "uniprot_ac": "P26640",
            "uniprot_id": "SYVC_HUMAN",
            "refseq_ac": "NP_006286",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Valine--tRNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Protein G7a",
                    "type": "synonym"
                },
                {
                    "name": "ValRS",
                    "type": "synonym"
                },
                {
                    "name": "Valyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "protein G7a",
                    "type": "synonym"
                },
                {
                    "name": "valRS",
                    "type": "synonym"
                },
                {
                    "name": "valine tRNA ligase 1, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "valine--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "valyl-tRNA synthetase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VARS1",
                    "type": "recommended"
                },
                {
                    "name": "G7A",
                    "type": "synonym"
                },
                {
                    "name": "NDMSCA",
                    "type": "synonym"
                },
                {
                    "name": "VARS1",
                    "type": "synonym"
                },
                {
                    "name": "VARS2",
                    "type": "synonym"
                },
                {
                    "name": "VARS",
                    "type": "synonym"
                }
            ],
            "record_id": "P26640-1",
            "evidence": [
                {
                    "id": "617802",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617802"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070755"
}