{
    "disease_id": "DOID:0070718",
    "recommended_name": {
        "id": "DOID:0070718",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070718",
        "name": "neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia",
        "description": "A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressive spastic paraplegia late in the first decade, resulting in gait abnormalities but not loss of ambulation, that has_material_basis_in homozygous mutation in the TBCB gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070718",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070718",
            "name": "NEDBSPG",
            "description": ""
        },
        {
            "id": "MONDO:0980706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980706",
            "name": "neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070718"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070718",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070718",
            "categories": []
        },
        {
            "id": "MONDO:0980706",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980706",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99426-1",
            "uniprot_ac": "Q99426",
            "uniprot_id": "TBCB_HUMAN",
            "refseq_ac": "NP_001272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-folding cofactor B",
                    "type": "recommended"
                },
                {
                    "name": "Cytoskeleton-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Cytoskeleton-associated protein CKAPI",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-specific chaperone B",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeleton-associated protein CKAPI",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-folding cofactor B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBCB",
                    "type": "recommended"
                },
                {
                    "name": "CG22",
                    "type": "synonym"
                },
                {
                    "name": "CKAP1",
                    "type": "synonym"
                },
                {
                    "name": "CKAPI",
                    "type": "synonym"
                },
                {
                    "name": "TBCB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99426-1",
            "evidence": [
                {
                    "id": "621382",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621382"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070718"
}