{
    "disease_id": "DOID:0111403",
    "recommended_name": {
        "id": "DOID:0111403",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111403",
        "name": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",
        "description": "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111403",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111403",
            "name": "MCCCHCM",
            "description": ""
        },
        {
            "id": "MONDO:0032648",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032648",
            "name": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",
            "description": ""
        },
        {
            "id": "MONDO:0032648",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032648",
            "name": "MCCCHCM",
            "description": ""
        },
        {
            "id": "MIM:618273",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618273",
            "name": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",
            "description": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111403"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111403",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111403",
            "categories": []
        },
        {
            "id": "MONDO:0032648",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032648",
            "categories": []
        },
        {
            "id": "MIM:618273",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618273",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AKH8-1",
            "uniprot_ac": "A0A8M3AKH8",
            "uniprot_id": "A0A8M3AKH8_DANRE",
            "refseq_ac": "XP_009292706",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mast1a",
                    "type": "recommended"
                },
                {
                    "name": "mast1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AKH8-1",
            "evidence": [
                {
                    "id": "0111403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AXQ6-1",
            "uniprot_ac": "A0A8M3AXQ6",
            "uniprot_id": "A0A8M3AXQ6_DANRE",
            "refseq_ac": "XP_009297388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mast1b",
                    "type": "recommended"
                },
                {
                    "name": "mast1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AXQ6-1",
            "evidence": [
                {
                    "id": "0111403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1L5-1",
            "uniprot_ac": "Q9R1L5",
            "uniprot_id": "MAST1_MOUSE",
            "refseq_ac": "NP_064329",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-associated serine/threonine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin associated serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin-associated serine-threonine protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mast1",
                    "type": "recommended"
                },
                {
                    "name": "9430008B02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0973",
                    "type": "synonym"
                },
                {
                    "name": "Mast1",
                    "type": "synonym"
                },
                {
                    "name": "SAST170",
                    "type": "synonym"
                },
                {
                    "name": "SAST",
                    "type": "synonym"
                },
                {
                    "name": "Sast",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1L5-1",
            "evidence": [
                {
                    "id": "0111403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2H9-1",
            "uniprot_ac": "Q9Y2H9",
            "uniprot_id": "MAST1_HUMAN",
            "refseq_ac": "NP_055790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-associated serine/threonine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin associated serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin-associated serine/threonine-protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAST1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0973",
                    "type": "synonym"
                },
                {
                    "name": "MAST1",
                    "type": "synonym"
                },
                {
                    "name": "MCCCHCM",
                    "type": "synonym"
                },
                {
                    "name": "SAST",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2H9-1",
            "evidence": [
                {
                    "id": "618273",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618273"
                },
                {
                    "id": "0111403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q810W7-1",
            "uniprot_ac": "Q810W7",
            "uniprot_id": "MAST1_RAT",
            "refseq_ac": "NP_851603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-associated serine/threonine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin associated serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin-associated serine/threonine-protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mast1",
                    "type": "recommended"
                },
                {
                    "name": "MAST1",
                    "type": "synonym"
                },
                {
                    "name": "Mast1",
                    "type": "synonym"
                },
                {
                    "name": "Sast",
                    "type": "synonym"
                }
            ],
            "record_id": "Q810W7-1",
            "evidence": [
                {
                    "id": "0111403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUQ9-1",
            "uniprot_ac": "Q9VUQ9",
            "uniprot_id": "Q9VUQ9_DROME",
            "refseq_ac": "NP_001261884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG6498-PB",
                    "type": "synonym"
                },
                {
                    "name": "dop-PB",
                    "type": "synonym"
                },
                {
                    "name": "drop out, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dop",
                    "type": "recommended"
                },
                {
                    "name": "CG6498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6498",
                    "type": "synonym"
                },
                {
                    "name": "MAST 205",
                    "type": "synonym"
                },
                {
                    "name": "MAST205",
                    "type": "synonym"
                },
                {
                    "name": "dop",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUQ9-1",
            "evidence": [
                {
                    "id": "0111403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111403"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111403"
}