{
    "disease_id": "DOID:0081387",
    "recommended_name": {
        "id": "DOID:0081387",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081387",
        "name": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0957386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957386",
            "name": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",
            "description": ""
        },
        {
            "id": "MIM:620428",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620428",
            "name": "Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",
            "description": "Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081387"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081387",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081387",
            "categories": []
        },
        {
            "id": "MONDO:0957386",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957386",
            "categories": []
        },
        {
            "id": "MIM:620428",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620428",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503E1-1",
            "uniprot_ac": "Q503E1",
            "uniprot_id": "INT11_DANRE",
            "refseq_ac": "NP_001018457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrator complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.27.-",
                    "type": "synonym"
                },
                {
                    "name": "CPSF3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Int11",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation specific factor 3-like",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "int11",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cpsf3l",
                    "type": "recommended"
                },
                {
                    "name": "ints11",
                    "type": "recommended"
                },
                {
                    "name": "cpsf3l",
                    "type": "synonym"
                },
                {
                    "name": "ints11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110671",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503E1-1",
            "evidence": [
                {
                    "id": "0081387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CWS4-1",
            "uniprot_ac": "Q9CWS4",
            "uniprot_id": "INT11_MOUSE",
            "refseq_ac": "NP_082296",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrator complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.27.-",
                    "type": "synonym"
                },
                {
                    "name": "CPSF3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Int11",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation specific factor 3-like",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "int11",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ints11",
                    "type": "recommended"
                },
                {
                    "name": "2410006F12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cpsf3l",
                    "type": "synonym"
                },
                {
                    "name": "Ints11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWS4-1",
            "evidence": [
                {
                    "id": "0081387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TA45-1",
            "uniprot_ac": "Q5TA45",
            "uniprot_id": "INT11_HUMAN",
            "refseq_ac": "NP_001243385",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrator complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.27.-",
                    "type": "synonym"
                },
                {
                    "name": "CPSF3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Int11",
                    "type": "synonym"
                },
                {
                    "name": "Protein related to CPSF subunits of 68 kDa",
                    "type": "synonym"
                },
                {
                    "name": "RC-68",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation specific factor 3-like",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein related to CPSF subunits of 68 kDa",
                    "type": "synonym"
                },
                {
                    "name": "related to CPSF subunits 68 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INTS11",
                    "type": "recommended"
                },
                {
                    "name": "CPSF3L",
                    "type": "synonym"
                },
                {
                    "name": "CPSF73L",
                    "type": "synonym"
                },
                {
                    "name": "INT11",
                    "type": "synonym"
                },
                {
                    "name": "INTS11",
                    "type": "synonym"
                },
                {
                    "name": "NEDMLOB",
                    "type": "synonym"
                },
                {
                    "name": "PSF3L",
                    "type": "synonym"
                },
                {
                    "name": "RC-68",
                    "type": "synonym"
                },
                {
                    "name": "RC68",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TA45-1",
            "evidence": [
                {
                    "id": "620428",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620428"
                },
                {
                    "id": "0081387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3MHC2-1",
            "uniprot_ac": "Q3MHC2",
            "uniprot_id": "INT11_RAT",
            "refseq_ac": "NP_001029064",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrator complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.27.-",
                    "type": "synonym"
                },
                {
                    "name": "CPSF3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Int11",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation specific factor 3-like",
                    "type": "synonym"
                },
                {
                    "name": "cleavage and polyadenylation-specific factor 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ints11",
                    "type": "recommended"
                },
                {
                    "name": "Cpsf3l",
                    "type": "synonym"
                },
                {
                    "name": "Ints11",
                    "type": "synonym"
                },
                {
                    "name": "int11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3MHC2-1",
            "evidence": [
                {
                    "id": "0081387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAH9-1",
            "uniprot_ac": "Q9VAH9",
            "uniprot_id": "INT11_DROME",
            "refseq_ac": "NP_651721",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrator complex subunit 11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.27.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1972-PA",
                    "type": "synonym"
                },
                {
                    "name": "IntS11-PA",
                    "type": "synonym"
                },
                {
                    "name": "integrator 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IntS11",
                    "type": "recommended"
                },
                {
                    "name": "CG1972",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1972",
                    "type": "synonym"
                },
                {
                    "name": "Int11",
                    "type": "synonym"
                },
                {
                    "name": "IntS11",
                    "type": "synonym"
                },
                {
                    "name": "dRC-68",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAH9-1",
            "evidence": [
                {
                    "id": "0081387",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081387"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081387"
}