{
    "disease_id": "DOID:0112123",
    "recommended_name": {
        "id": "DOID:0112123",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112123",
        "name": "deafness, dystonia, and cerebral hypomyelination",
        "description": "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112123",
            "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112123",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112123",
            "name": "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome",
            "description": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)."
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "deafness, dystonia, and cerebral hypomyelination, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "DDCH",
            "description": ""
        },
        {
            "id": "MONDO:0010334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "name": "deafness, dystonia, and cerebral hypomyelination",
            "description": ""
        },
        {
            "id": "MIM:300475",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300475",
            "name": "Deafness, dystonia, and cerebral hypomyelination",
            "description": "Deafness, dystonia, and cerebral hypomyelination"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112123"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112123",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112123",
            "categories": []
        },
        {
            "id": "MONDO:0010334",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010334",
            "categories": []
        },
        {
            "id": "MIM:300475",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300475",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61335-1",
            "uniprot_ac": "Q61335",
            "uniprot_id": "BAP31_MOUSE",
            "refseq_ac": "NP_001300627",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell receptor-associated protein 31",
                    "type": "recommended"
                },
                {
                    "name": "B-cell receptor-associated protein 31 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "BCR-associated protein 31",
                    "type": "synonym"
                },
                {
                    "name": "Bap31",
                    "type": "synonym"
                },
                {
                    "name": "accessory protein BAP31",
                    "type": "synonym"
                },
                {
                    "name": "p28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcap31",
                    "type": "recommended"
                },
                {
                    "name": "Bap31",
                    "type": "synonym"
                },
                {
                    "name": "Bcap31",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61335-1",
            "evidence": [
                {
                    "id": "0112123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51572-1",
            "uniprot_ac": "P51572",
            "uniprot_id": "BAP31_HUMAN",
            "refseq_ac": "NP_001132913",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell receptor-associated protein 31",
                    "type": "recommended"
                },
                {
                    "name": "6C6-AG tumor-associated antigen",
                    "type": "synonym"
                },
                {
                    "name": "B-cell receptor-associated protein 31 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "BCR-associated protein 31",
                    "type": "synonym"
                },
                {
                    "name": "BCR-associated protein Bap31",
                    "type": "synonym"
                },
                {
                    "name": "Bap31",
                    "type": "synonym"
                },
                {
                    "name": "Protein CDM",
                    "type": "synonym"
                },
                {
                    "name": "p28 Bap31",
                    "type": "synonym"
                },
                {
                    "name": "p28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCAP31",
                    "type": "recommended"
                },
                {
                    "name": "6C6-AG",
                    "type": "synonym"
                },
                {
                    "name": "BAP31",
                    "type": "synonym"
                },
                {
                    "name": "BCAP31",
                    "type": "synonym"
                },
                {
                    "name": "CDM",
                    "type": "synonym"
                },
                {
                    "name": "DDCH",
                    "type": "synonym"
                },
                {
                    "name": "DELXQ28",
                    "type": "synonym"
                },
                {
                    "name": "DXS1357E",
                    "type": "synonym"
                },
                {
                    "name": "MICRODELXq28",
                    "type": "synonym"
                }
            ],
            "record_id": "P51572-1",
            "evidence": [
                {
                    "id": "300475",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300475"
                },
                {
                    "id": "0112123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07451-1",
            "uniprot_ac": "Q07451",
            "uniprot_id": "YET3_YEAST",
            "refseq_ac": "NP_010211",
            "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": "Endoplasmic reticulum transmembrane protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Yet3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YET3",
                    "type": "recommended"
                },
                {
                    "name": "YET3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07451-1",
            "evidence": [
                {
                    "id": "0112123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZX74-1",
            "uniprot_ac": "A0A8I5ZX74",
            "uniprot_id": "A0A8I5ZX74_RAT",
            "refseq_ac": "NP_001004224",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell receptor-associated protein",
                    "type": "recommended"
                },
                {
                    "name": "B-cell receptor-associated protein 31",
                    "type": "synonym"
                },
                {
                    "name": "BCR-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcap31",
                    "type": "recommended"
                },
                {
                    "name": "Bap31",
                    "type": "synonym"
                },
                {
                    "name": "Bcap31",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZX74-1",
            "evidence": [
                {
                    "id": "0112123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112123"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0M4-1",
            "uniprot_ac": "Q9W0M4",
            "uniprot_id": "Q9W0M4_DROME",
            "refseq_ac": "NP_001286891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum transmembrane protein",
                    "type": "recommended"
                },
                {
                    "name": "CG13887-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13887",
                    "type": "recommended"
                },
                {
                    "name": "CG13887",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13887",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13887",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0M4-1",
            "evidence": [
                {
                    "id": "0112123",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112123"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112123"
}