{
    "disease_id": "DOID:0081193",
    "recommended_name": {
        "id": "DOID:0081193",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081193",
        "name": "autosomal recessive intellectual developmental disorder 27",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "intellectual disability, autosomal recessive 27",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene."
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "LINS1 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1",
            "description": ""
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "intellectual developmental disorder, autosomal recessive 27",
            "description": ""
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "intellectual disability, autosomal recessive 27",
            "description": ""
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "intellectual disability, autosomal recessive type 27",
            "description": ""
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "mental retardation, autosomal recessive type 27",
            "description": ""
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "MRT27",
            "description": ""
        },
        {
            "id": "MONDO:0013702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "name": "mental retardation, autosomal recessive 27",
            "description": ""
        },
        {
            "id": "MIM:614340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614340",
            "name": "Intellectual developmental disorder, autosomal recessive 27",
            "description": "Intellectual developmental disorder, autosomal recessive 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081193"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081193",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081193",
            "categories": []
        },
        {
            "id": "MONDO:0013702",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013702",
            "categories": []
        },
        {
            "id": "MIM:614340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614340",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G352-1",
            "uniprot_ac": "A0AC58G352",
            "uniprot_id": "A0AC58G352_DANRE",
            "refseq_ac": "XP_073764161",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Lines homolog 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein Lines homolog 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lins1",
                    "type": "recommended"
                },
                {
                    "name": "lins1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G352-1",
            "evidence": [
                {
                    "id": "0081193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U1D0-1",
            "uniprot_ac": "Q3U1D0",
            "uniprot_id": "LINES_MOUSE",
            "refseq_ac": "NP_001177930",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Lines homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein Lines homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Wins2 protein with Drosophila Lin homologous domain",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-signaling molecule Lines homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "lines homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Lines homolog 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Lines homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein Lines homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein with Drosophila Lines homologous domain",
                    "type": "synonym"
                },
                {
                    "name": "wnt-signaling molecule Lines homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "wnt-signaling molecule Lines homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lins1",
                    "type": "recommended"
                },
                {
                    "name": "2700083B01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lins1",
                    "type": "synonym"
                },
                {
                    "name": "Lins2",
                    "type": "synonym"
                },
                {
                    "name": "Lins",
                    "type": "synonym"
                },
                {
                    "name": "Wins2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U1D0-1",
            "evidence": [
                {
                    "id": "0081193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NG48-1",
            "uniprot_ac": "Q8NG48",
            "uniprot_id": "LINES_HUMAN",
            "refseq_ac": "NP_001035706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Lines homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "WINS1 protein with Drosophila Lines (Lin) homologous domain",
                    "type": "synonym"
                },
                {
                    "name": "Wnt-signaling molecule Lines homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein Lines homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein Lines homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "wnt-signaling molecule Lines homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LINS1",
                    "type": "recommended"
                },
                {
                    "name": "LINS1",
                    "type": "synonym"
                },
                {
                    "name": "LINS",
                    "type": "synonym"
                },
                {
                    "name": "MRT27",
                    "type": "synonym"
                },
                {
                    "name": "WINS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NG48-1",
            "evidence": [
                {
                    "id": "614340",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614340"
                },
                {
                    "id": "0081193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LJ11-1",
            "uniprot_ac": "A0ABK0LJ11",
            "uniprot_id": "A0ABK0LJ11_RAT",
            "refseq_ac": "NP_001387157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lines homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "lines homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Lines homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lins1",
                    "type": "recommended"
                },
                {
                    "name": "Lins1",
                    "type": "synonym"
                },
                {
                    "name": "Lins2",
                    "type": "synonym"
                },
                {
                    "name": "Lins",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308792",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LJ11-1",
            "evidence": [
                {
                    "id": "0081193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081193"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4Z9-1",
            "uniprot_ac": "Q9V4Z9",
            "uniprot_id": "LINES_DROME",
            "refseq_ac": "NP_524815",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein lines",
                    "type": "recommended"
                },
                {
                    "name": "CG11770-PA",
                    "type": "synonym"
                },
                {
                    "name": "lin-PA",
                    "type": "synonym"
                },
                {
                    "name": "lines",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lin",
                    "type": "recommended"
                },
                {
                    "name": "CG11770",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11770",
                    "type": "synonym"
                },
                {
                    "name": "Lin",
                    "type": "synonym"
                },
                {
                    "name": "lin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4Z9-1",
            "evidence": [
                {
                    "id": "0081193",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081193"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081193"
}