{
    "disease_id": "DOID:0070714",
    "recommended_name": {
        "id": "DOID:0070714",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070714",
        "name": "neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities",
        "description": "A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070714",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070714",
            "name": "NEDBAC",
            "description": ""
        },
        {
            "id": "MONDO:0980710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980710",
            "name": "neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070714"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070714",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070714",
            "categories": []
        },
        {
            "id": "MONDO:0980710",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980710",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O95295-1",
            "uniprot_ac": "O95295",
            "uniprot_id": "SNAPN_HUMAN",
            "refseq_ac": "NP_036569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SNARE-associated protein Snapin",
                    "type": "recommended"
                },
                {
                    "name": "BLOC-1 related complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "BLOC-1 subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "Biogenesis of lysosome-related organelles complex 1 subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-25-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SNAP-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "SNARE associated protein snapin",
                    "type": "synonym"
                },
                {
                    "name": "SNARE-associated protein Snapin",
                    "type": "synonym"
                },
                {
                    "name": "Synaptosomal-associated protein 25-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosomal organelles complex-1, subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "biogenesis of lysosome-related organelles complex 1 subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "synaptosomal-associated protein 25-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNAPIN",
                    "type": "recommended"
                },
                {
                    "name": "BLOC1S7",
                    "type": "synonym"
                },
                {
                    "name": "BLOS7",
                    "type": "synonym"
                },
                {
                    "name": "BORCS3",
                    "type": "synonym"
                },
                {
                    "name": "NEDBAC",
                    "type": "synonym"
                },
                {
                    "name": "SNAP25BP",
                    "type": "synonym"
                },
                {
                    "name": "SNAPAP",
                    "type": "synonym"
                },
                {
                    "name": "SNAPIN",
                    "type": "synonym"
                }
            ],
            "record_id": "O95295-1",
            "evidence": [
                {
                    "id": "621393",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621393"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070714"
}