{
    "disease_id": "DOID:0060816",
    "recommended_name": {
        "id": "DOID:0060816",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060816",
        "name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "Graham-Cox syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "MRXS28",
            "description": ""
        },
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "mental retardation, X-linked, syndromic 28",
            "description": ""
        },
        {
            "id": "DOID:0060816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",
            "description": "A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature."
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "Graham-Cox syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "MRXS28",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "intellectual disability, X-linked, syndromic 28",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "mental retardation, X-linked, syndromic 28",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia",
            "description": ""
        },
        {
            "id": "MIM:300472",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300472",
            "name": "Intellectual developmental disorder, X-linked, syndromic 28",
            "description": "Intellectual developmental disorder, X-linked, syndromic 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060816"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060816",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060816",
            "categories": []
        },
        {
            "id": "MONDO:0010333",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010333",
            "categories": []
        },
        {
            "id": "MIM:300472",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300472",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61249-1",
            "uniprot_ac": "Q61249",
            "uniprot_id": "IGBP1_MOUSE",
            "refseq_ac": "NP_032810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha4 phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "CD79a-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte signal transduction molecule alpha 4",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2/4/6 regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha4 phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte signal transduction molecule alpha 4",
                    "type": "synonym"
                },
                {
                    "name": "p52",
                    "type": "synonym"
                },
                {
                    "name": "phosphoprotein, component, 52 kDa",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2/4/6 regulatory subunit",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Igbp1",
                    "type": "recommended"
                },
                {
                    "name": "Igbp1",
                    "type": "synonym"
                },
                {
                    "name": "Pc52",
                    "type": "synonym"
                },
                {
                    "name": "Tap42",
                    "type": "synonym"
                },
                {
                    "name": "p52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61249-1",
            "evidence": [
                {
                    "id": "0060816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78318-1",
            "uniprot_ac": "P78318",
            "uniprot_id": "IGBP1_HUMAN",
            "refseq_ac": "NP_001542",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B cell signal transduction molecule alpha 4",
                    "type": "synonym"
                },
                {
                    "name": "B-cell signal transduction molecule alpha 4",
                    "type": "synonym"
                },
                {
                    "name": "CD79a-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2/4/6 regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-16",
                    "type": "synonym"
                },
                {
                    "name": "bA351K23.1 (immunoglobulin binding protein 1 (CD79A))",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin (CD79A) binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-binding protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2/4/6 regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2A, regulatory subunit alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGBP1",
                    "type": "recommended"
                },
                {
                    "name": "ALPHA-4",
                    "type": "synonym"
                },
                {
                    "name": "IBP1",
                    "type": "synonym"
                },
                {
                    "name": "IGBP1",
                    "type": "synonym"
                },
                {
                    "name": "MRXS28",
                    "type": "synonym"
                },
                {
                    "name": "alpha4",
                    "type": "synonym"
                }
            ],
            "record_id": "P78318-1",
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                {
                    "id": "300472",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300472"
                },
                {
                    "id": "0060816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04372-1",
            "uniprot_ac": "Q04372",
            "uniprot_id": "TAP42_YEAST",
            "refseq_ac": "NP_013741",
            "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": "Type 2A phosphatase-associated protein 42",
                    "type": "recommended"
                },
                {
                    "name": "Tap42p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAP42",
                    "type": "recommended"
                },
                {
                    "name": "TAP42",
                    "type": "synonym"
                },
                {
                    "name": "YM9711.18",
                    "type": "synonym"
                },
                {
                    "name": "YM9973.01C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04372-1",
            "evidence": [
                {
                    "id": "0060816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08836-1",
            "uniprot_ac": "O08836",
            "uniprot_id": "IGBP1_RAT",
            "refseq_ac": "NP_113812",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha4 phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "CD79a-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2/4/6 regulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha4 phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin (CD79A) binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2/4/6 regulatory subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igbp1",
                    "type": "recommended"
                },
                {
                    "name": "Igbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "O08836-1",
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                {
                    "id": "0060816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJZ5-1",
            "uniprot_ac": "Q9VJZ5",
            "uniprot_id": "Q9VJZ5_DROME",
            "refseq_ac": "NP_723811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31852-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tap42-PA",
                    "type": "synonym"
                },
                {
                    "name": "Two A-associated protein of 42kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tap42",
                    "type": "recommended"
                },
                {
                    "name": "CG31852",
                    "type": "synonym"
                },
                {
                    "name": "CG6537",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31852",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31852",
                    "type": "synonym"
                },
                {
                    "name": "Tap-42/CG31852",
                    "type": "synonym"
                },
                {
                    "name": "Tap42",
                    "type": "synonym"
                },
                {
                    "name": "dTap42",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJZ5-1",
            "evidence": [
                {
                    "id": "0060816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060816"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060816"
}