{
    "disease_id": "DOID:0070346",
    "recommended_name": {
        "id": "DOID:0070346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070346",
        "name": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",
        "description": "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0032817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032817",
            "name": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",
            "description": ""
        },
        {
            "id": "MONDO:0032817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032817",
            "name": "NDCAGF",
            "description": ""
        },
        {
            "id": "MIM:618571",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618571",
            "name": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",
            "description": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070346"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070346",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070346",
            "categories": []
        },
        {
            "id": "MONDO:0032817",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032817",
            "categories": []
        },
        {
            "id": "MIM:618571",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618571",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P4S8-1",
            "uniprot_ac": "Q6P4S8",
            "uniprot_id": "INT1_MOUSE",
            "refseq_ac": "NP_081024",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrator complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Int1",
                    "type": "synonym"
                },
                {
                    "name": "int1",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ints1",
                    "type": "recommended"
                },
                {
                    "name": "1110015K06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ints1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P4S8-1",
            "evidence": [
                {
                    "id": "0070346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N201-1",
            "uniprot_ac": "Q8N201",
            "uniprot_id": "INT1_HUMAN",
            "refseq_ac": "NP_001073922",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrator complex subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "Int1",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INTS1",
                    "type": "recommended"
                },
                {
                    "name": "INT1",
                    "type": "synonym"
                },
                {
                    "name": "INTS1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1440",
                    "type": "synonym"
                },
                {
                    "name": "NDCAGF",
                    "type": "synonym"
                },
                {
                    "name": "NET28",
                    "type": "synonym"
                },
                {
                    "name": "PRO3434",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N201-1",
            "evidence": [
                {
                    "id": "618571",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618571"
                },
                {
                    "id": "0070346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M8D7-1",
            "uniprot_ac": "F1M8D7",
            "uniprot_id": "F1M8D7_RAT",
            "refseq_ac": "XP_063127803",
            "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 1",
                    "type": "synonym"
                },
                {
                    "name": "integrator complex subunit 1 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ints1",
                    "type": "recommended"
                },
                {
                    "name": "Ints1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M8D7-1",
            "evidence": [
                {
                    "id": "0070346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070346"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1C5-1",
            "uniprot_ac": "Q9W1C5",
            "uniprot_id": "INT1_DROME",
            "refseq_ac": "NP_611875",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CG3173-PA",
                    "type": "synonym"
                },
                {
                    "name": "IntS1-PA",
                    "type": "synonym"
                },
                {
                    "name": "integrator 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IntS1",
                    "type": "recommended"
                },
                {
                    "name": "CG3173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3173",
                    "type": "synonym"
                },
                {
                    "name": "Int1",
                    "type": "synonym"
                },
                {
                    "name": "IntS1",
                    "type": "synonym"
                },
                {
                    "name": "intS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1C5-1",
            "evidence": [
                {
                    "id": "0070346",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070346"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070346"
}