{
    "disease_id": "DOID:0081219",
    "recommended_name": {
        "id": "DOID:0081219",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081219",
        "name": "autosomal recessive intellectual developmental disorder 57",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "intellectual disability, autosomal recessive 57",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene."
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "MBOAT7 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "MRT57",
            "description": ""
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7",
            "description": ""
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "intellectual developmental disorder, autosomal recessive 57",
            "description": ""
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "intellectual disability, autosomal recessive 57",
            "description": ""
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "intellectual disability, autosomal recessive type 57",
            "description": ""
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "mental retardation, autosomal recessive 57",
            "description": ""
        },
        {
            "id": "MONDO:0014962",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "name": "mental retardation, autosomal recessive type 57",
            "description": ""
        },
        {
            "id": "MIM:617188",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617188",
            "name": "Intellectual developmental disorder, autosomal recessive 57",
            "description": "Intellectual developmental disorder, autosomal recessive 57"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081219"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081219",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081219",
            "categories": []
        },
        {
            "id": "MONDO:0014962",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014962",
            "categories": []
        },
        {
            "id": "MIM:617188",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617188",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZQ0-1",
            "uniprot_ac": "Q7SZQ0",
            "uniprot_id": "MBOA7_DANRE",
            "refseq_ac": "NP_956831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound acylglycerophosphatidylinositol O-acyltransferase mboat7",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT 7",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte receptor cluster member 4",
                    "type": "synonym"
                },
                {
                    "name": "Lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-bound O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster (LRC) member 4",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster member 4",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound acylglycerophosphatidylinositol O-acyltransferase mboat7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mboat7",
                    "type": "recommended"
                },
                {
                    "name": "leng4",
                    "type": "synonym"
                },
                {
                    "name": "mboat7",
                    "type": "synonym"
                },
                {
                    "name": "oact7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66032",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZQ0-1",
            "evidence": [
                {
                    "id": "0081219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CHK3-1",
            "uniprot_ac": "Q8CHK3",
            "uniprot_id": "MBOA7_MOUSE",
            "refseq_ac": "NP_084210",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7",
                    "type": "recommended"
                },
                {
                    "name": "1-acylglycerophosphatidylinositol O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Bladder and breast carcinoma-overexpressed gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "LPIAT1",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT 7",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte receptor cluster member 4",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidylinositol acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-bound O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "bladder and breast carcinoma-overexpressed gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster (LRC) member 4",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylinositol acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "m-mboa-7",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mboat7",
                    "type": "recommended"
                },
                {
                    "name": "5730589L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "BB1",
                    "type": "synonym"
                },
                {
                    "name": "Bb1",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT 7",
                    "type": "synonym"
                },
                {
                    "name": "Leng4",
                    "type": "synonym"
                },
                {
                    "name": "Lpiat1",
                    "type": "synonym"
                },
                {
                    "name": "Lpiat",
                    "type": "synonym"
                },
                {
                    "name": "Mboat7",
                    "type": "synonym"
                },
                {
                    "name": "Oact7",
                    "type": "synonym"
                },
                {
                    "name": "m-mboa-7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHK3-1",
            "evidence": [
                {
                    "id": "0081219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96N66-1",
            "uniprot_ac": "Q96N66",
            "uniprot_id": "MBOA7_HUMAN",
            "refseq_ac": "NP_001139528",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7",
                    "type": "recommended"
                },
                {
                    "name": "1-acylglycerophosphatidylinositol O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Bladder and breast carcinoma-overexpressed gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "LPIAT",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT 7",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte receptor cluster member 4",
                    "type": "synonym"
                },
                {
                    "name": "Lyso-PI acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidylinositol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-bound O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "bladder and breast carcinoma-overexpressed gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "h-mboa-7",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster (LRC) member 4",
                    "type": "synonym"
                },
                {
                    "name": "lyso-PI acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylinositol acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylinositol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid acyltransferase 11",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "malignant cell expression-enhanced gene/tumor progression-enhanced",
                    "type": "synonym"
                },
                {
                    "name": "membrane bound O-acyltransferase domain containing 7",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MBOAT7",
                    "type": "recommended"
                },
                {
                    "name": "BB1",
                    "type": "synonym"
                },
                {
                    "name": "LENG4",
                    "type": "synonym"
                },
                {
                    "name": "LPIAT1",
                    "type": "synonym"
                },
                {
                    "name": "LPIAT",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT11",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT",
                    "type": "synonym"
                },
                {
                    "name": "LRC4",
                    "type": "synonym"
                },
                {
                    "name": "MBOA7",
                    "type": "synonym"
                },
                {
                    "name": "MBOAT7",
                    "type": "synonym"
                },
                {
                    "name": "MRT57",
                    "type": "synonym"
                },
                {
                    "name": "OACT7",
                    "type": "synonym"
                },
                {
                    "name": "hMBOA-7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96N66-1",
            "evidence": [
                {
                    "id": "617188",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617188"
                },
                {
                    "id": "0081219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7N6-1",
            "uniprot_ac": "G3V7N6",
            "uniprot_id": "G3V7N6_RAT",
            "refseq_ac": "NP_001128450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leukocyte receptor cluster member 4",
                    "type": "recommended"
                },
                {
                    "name": "Lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-bound O-acyltransferase domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte receptor cluster (LRC) member 4",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "membrane bound O-acyltransferase domain containing 7-like 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane bound O-acyltransferase domain containing 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mboat7",
                    "type": "recommended"
                },
                {
                    "name": "Leng4",
                    "type": "synonym"
                },
                {
                    "name": "Mboat7l1",
                    "type": "synonym"
                },
                {
                    "name": "Mboat7",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306945",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7N6-1",
            "evidence": [
                {
                    "id": "0081219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081219"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMD5-1",
            "uniprot_ac": "Q9VMD5",
            "uniprot_id": "MBOA7_DROME",
            "refseq_ac": "NP_609029",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound acylglycerophosphatidylinositol O-acyltransferase frj",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.23",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.n6",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.n7",
                    "type": "synonym"
                },
                {
                    "name": "CG9526-PA",
                    "type": "synonym"
                },
                {
                    "name": "Farjavit",
                    "type": "synonym"
                },
                {
                    "name": "Frj",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT 7",
                    "type": "synonym"
                },
                {
                    "name": "Lysophospholipid acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "MBOA 7",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-bound acyltransferase 7",
                    "type": "synonym"
                },
                {
                    "name": "farjavit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "farjavit",
                    "type": "synonym"
                },
                {
                    "name": "frj-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frj",
                    "type": "recommended"
                },
                {
                    "name": "CG9526",
                    "type": "synonym"
                },
                {
                    "name": "CT26954",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9526",
                    "type": "synonym"
                },
                {
                    "name": "Frj",
                    "type": "synonym"
                },
                {
                    "name": "MBOAT",
                    "type": "synonym"
                },
                {
                    "name": "frj",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMD5-1",
            "evidence": [
                {
                    "id": "0081219",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081219"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081219"
}