{
    "disease_id": "DOID:0070423",
    "recommended_name": {
        "id": "DOID:0070423",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070423",
        "name": "early onset progressive encephalopathy with brain atrophy and thin corpus callosum",
        "description": "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070423",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070423",
            "name": "PEBAT",
            "description": ""
        },
        {
            "id": "DOID:0070423",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070423",
            "name": "early-onset progressive encephalopathy with brain atrophy and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "PEBAT",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT",
            "description": ""
        },
        {
            "id": "MIM:617193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617193",
            "name": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum",
            "description": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070423"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070423",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070423",
            "categories": []
        },
        {
            "id": "MONDO:0044646",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "categories": []
        },
        {
            "id": "MIM:617193",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617193",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BYA0-1",
            "uniprot_ac": "Q8BYA0",
            "uniprot_id": "TBCD_MOUSE",
            "refseq_ac": "NP_084154",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone D",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tubulin cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-folding cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-folding cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbcd",
                    "type": "recommended"
                },
                {
                    "name": "2310057L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "A030005L14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbcd",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0988",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYA0-1",
            "evidence": [
                {
                    "id": "0070423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BTW9-1",
            "uniprot_ac": "Q9BTW9",
            "uniprot_id": "TBCD_HUMAN",
            "refseq_ac": "NP_005984",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone D",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tubulin cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "SSD-1",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-folding cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "tfcD",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone D isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin-specific chaperone d",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBCD",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0988",
                    "type": "synonym"
                },
                {
                    "name": "PEBAT",
                    "type": "synonym"
                },
                {
                    "name": "PP1096",
                    "type": "synonym"
                },
                {
                    "name": "SSD-1",
                    "type": "synonym"
                },
                {
                    "name": "SSD1",
                    "type": "synonym"
                },
                {
                    "name": "TBCD",
                    "type": "synonym"
                },
                {
                    "name": "TFCD",
                    "type": "synonym"
                },
                {
                    "name": "tfcD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BTW9-1",
            "evidence": [
                {
                    "id": "617193",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617193"
                },
                {
                    "id": "0070423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40987-1",
            "uniprot_ac": "P40987",
            "uniprot_id": "CIN1_YEAST",
            "refseq_ac": "NP_014994",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromosome instability protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cin1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIN1",
                    "type": "recommended"
                },
                {
                    "name": "CIN1",
                    "type": "synonym"
                },
                {
                    "name": "O6350",
                    "type": "synonym"
                }
            ],
            "record_id": "P40987-1",
            "evidence": [
                {
                    "id": "0070423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZJB6-1",
            "uniprot_ac": "A0A8I5ZJB6",
            "uniprot_id": "A0A8I5ZJB6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone D",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tubulin cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-folding cofactor D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbcd",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZJB6-1",
            "evidence": [
                {
                    "id": "0070423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070423"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ78-1",
            "uniprot_ac": "Q9VQ78",
            "uniprot_id": "Q9VQ78_DROME",
            "refseq_ac": "NP_608648",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin-specific chaperone D",
                    "type": "recommended"
                },
                {
                    "name": "CG7261-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tbcd-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin-binding cofactor D",
                    "type": "synonym"
                },
                {
                    "name": "tubulin folding cofactor D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbcd",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD22320",
                    "type": "synonym"
                },
                {
                    "name": "CG7261",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7261",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7261",
                    "type": "synonym"
                },
                {
                    "name": "TBCD",
                    "type": "synonym"
                },
                {
                    "name": "Tbcd",
                    "type": "synonym"
                },
                {
                    "name": "tbcd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ78-1",
            "evidence": [
                {
                    "id": "0070423",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070423"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070423"
}