{
    "disease_id": "DOID:0081221",
    "recommended_name": {
        "id": "DOID:0081221",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081221",
        "name": "autosomal recessive intellectual developmental disorder 59",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "intellectual disability, autosomal recessive 59",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene."
        },
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "IMPA1 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "MRT59",
            "description": ""
        },
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1",
            "description": ""
        },
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "intellectual disability, autosomal recessive 59",
            "description": ""
        },
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "intellectual disability, autosomal recessive type 59",
            "description": ""
        },
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "mental retardation, autosomal recessive 59",
            "description": ""
        },
        {
            "id": "MONDO:0015020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "name": "mental retardation, autosomal recessive type 59",
            "description": ""
        },
        {
            "id": "MIM:617323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617323",
            "name": "Intellectual developmental disorder, autosomal recessive 59",
            "description": "Intellectual developmental disorder, autosomal recessive 59"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081221"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081221",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081221",
            "categories": []
        },
        {
            "id": "MONDO:0015020",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015020",
            "categories": []
        },
        {
            "id": "MIM:617323",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617323",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55023-1",
            "uniprot_ac": "O55023",
            "uniprot_id": "IMPA1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Inositol monophosphatase 1",
                    "type": "recommended"
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                    "name": "3.1.3.25",
                    "type": "synonym"
                },
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                    "name": "3.1.3.94",
                    "type": "synonym"
                },
                {
                    "name": "D-galactose 1-phosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "IMP 1",
                    "type": "synonym"
                },
                {
                    "name": "IMPase 1",
                    "type": "synonym"
                },
                {
                    "name": "Inositol-1(or 4)-monophosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "Lithium-sensitive myo-inositol monophosphatase A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Impa1",
                    "type": "recommended"
                }
            ],
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                }
            ]
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "type": "recommended"
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                {
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                    "type": "synonym"
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                    "name": "inositol monophosphatase 1 isoform 3",
                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "myo-inositol monophosphatase 1",
                    "type": "synonym"
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                {
                    "name": "testicular tissue protein Li 94",
                    "type": "synonym"
                }
            ],
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                    "name": "IMPA1",
                    "type": "recommended"
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                    "type": "synonym"
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                    "name": "IMPA",
                    "type": "synonym"
                },
                {
                    "name": "IMP",
                    "type": "synonym"
                },
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                    "name": "MRT59",
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                }
            ],
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                    "id": "617323",
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                    "url": "https://www.omim.org/entry/617323"
                },
                {
                    "id": "0081221",
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                }
            ]
        },
        {
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            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                }
            ],
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                    "name": "Inositol monophosphatase 1",
                    "type": "recommended"
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                    "name": "IMPase 1",
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                },
                {
                    "name": "Inositol-1(or 4)-monophosphatase 1",
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                {
                    "name": "inositol monophosphate 1-phosphatase INM1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "INM1",
                    "type": "recommended"
                },
                {
                    "name": "IMP1",
                    "type": "synonym"
                },
                {
                    "name": "INM1",
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                }
            ],
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                    "id": "0081221",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081221"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q05533-1",
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                }
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                    "name": "Inositol monophosphatase 2",
                    "type": "recommended"
                },
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                    "name": "IMP 2",
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                    "type": "synonym"
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                {
                    "name": "Inositol-1(or 4)-monophosphatase 2",
                    "type": "synonym"
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                    "name": "inositol monophosphate 1-phosphatase INM2",
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                }
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                    "name": "INM2",
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            "uniprot_canonical_ac": "P97697-1",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Inositol monophosphatase 1",
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                    "name": "D-galactose 1-phosphate phosphatase",
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                },
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                },
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                    "name": "IMPase 1",
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                    "name": "Inositol (myo)-1(or 4)-monophosphatase 1",
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                    "id": "0081221",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081221"
}