{
    "disease_id": "DOID:0081218",
    "recommended_name": {
        "id": "DOID:0081218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081218",
        "name": "autosomal recessive intellectual developmental disorder 74",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported."
    },
    "synonyms": [
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "intellectual developmental disorder, autosomal recessive 74",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene."
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "APC2 Sotos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "Sotos syndrome caused by mutation in APC2",
            "description": ""
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "Sotos syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "name": "intellectual developmental disorder, autosomal recessive 74",
            "description": ""
        },
        {
            "id": "MIM:617169",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617169",
            "name": "Intellectual developmental disorder, autosomal recessive 74",
            "description": "Intellectual developmental disorder, autosomal recessive 74"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081218",
            "categories": []
        },
        {
            "id": "MONDO:0014951",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014951",
            "categories": []
        },
        {
            "id": "MIM:617169",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617169",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QMA5-1",
            "uniprot_ac": "A0A8M9QMA5",
            "uniprot_id": "A0A8M9QMA5_DANRE",
            "refseq_ac": "XP_073772394",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein 2",
                    "type": "recommended"
                },
                {
                    "name": "adenomatous polyposis coli protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apc2",
                    "type": "recommended"
                },
                {
                    "name": "apc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QMA5-1",
            "evidence": [
                {
                    "id": "0081218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1K7-1",
            "uniprot_ac": "Q9Z1K7",
            "uniprot_id": "APCL_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Apc2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9Z1K7-1",
            "evidence": [
                {
                    "id": "0081218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95996-1",
            "uniprot_ac": "O95996",
            "uniprot_id": "APCL_HUMAN",
            "refseq_ac": "NP_005874",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein 2",
                    "type": "recommended"
                },
                {
                    "name": "APC-like",
                    "type": "synonym"
                },
                {
                    "name": "APC2, WNT signaling pathway regulator",
                    "type": "synonym"
                },
                {
                    "name": "Adenomatous polyposis coli protein-like",
                    "type": "synonym"
                },
                {
                    "name": "adenomatosis polyposis coli 2",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli like",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APC2",
                    "type": "recommended"
                },
                {
                    "name": "APC2",
                    "type": "synonym"
                },
                {
                    "name": "APCL",
                    "type": "synonym"
                },
                {
                    "name": "MRT74",
                    "type": "synonym"
                }
            ],
            "record_id": "O95996-1",
            "evidence": [
                {
                    "id": "617169",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617169"
                },
                {
                    "id": "0081218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LAD0-1",
            "uniprot_ac": "A0ABK0LAD0",
            "uniprot_id": "A0ABK0LAD0_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli protein 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Apc2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LAD0-1",
            "evidence": [
                {
                    "id": "0081218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y1T2-1",
            "uniprot_ac": "Q9Y1T2",
            "uniprot_id": "Q9Y1T2_DROME",
            "refseq_ac": "NP_001334699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenomatous polyposis coli 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Adenomatous polyposis coli 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Apc2-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG6193-PC",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli 2",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli tumor suppressor homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial adenomatous polyposis coli",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apc2",
                    "type": "recommended"
                },
                {
                    "name": "APC2",
                    "type": "synonym"
                },
                {
                    "name": "APC",
                    "type": "synonym"
                },
                {
                    "name": "Apc2",
                    "type": "synonym"
                },
                {
                    "name": "CG6193",
                    "type": "synonym"
                },
                {
                    "name": "D-APC2",
                    "type": "synonym"
                },
                {
                    "name": "Dm APC2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6193",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6193",
                    "type": "synonym"
                },
                {
                    "name": "E-APC dAPC2",
                    "type": "synonym"
                },
                {
                    "name": "E-APC",
                    "type": "synonym"
                },
                {
                    "name": "apc2",
                    "type": "synonym"
                },
                {
                    "name": "d-APC2",
                    "type": "synonym"
                },
                {
                    "name": "dAPC2/E-APC",
                    "type": "synonym"
                },
                {
                    "name": "dAPC2",
                    "type": "synonym"
                },
                {
                    "name": "dApc2",
                    "type": "synonym"
                },
                {
                    "name": "dapc2",
                    "type": "synonym"
                },
                {
                    "name": "e-apc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y1T2-1",
            "evidence": [
                {
                    "id": "0081218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAS9-1",
            "uniprot_ac": "Q9VAS9",
            "uniprot_id": "Q9VAS9_DROME",
            "refseq_ac": "NP_001263046",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "APC-like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "APC-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Apc-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG1451-PB",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli 1",
                    "type": "synonym"
                },
                {
                    "name": "adenomatous polyposis coli protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apc",
                    "type": "recommended"
                },
                {
                    "name": "APC1",
                    "type": "synonym"
                },
                {
                    "name": "APC",
                    "type": "synonym"
                },
                {
                    "name": "Apc1",
                    "type": "synonym"
                },
                {
                    "name": "Apc",
                    "type": "synonym"
                },
                {
                    "name": "CG1451",
                    "type": "synonym"
                },
                {
                    "name": "D-APC1",
                    "type": "synonym"
                },
                {
                    "name": "D-APC",
                    "type": "synonym"
                },
                {
                    "name": "DAPC",
                    "type": "synonym"
                },
                {
                    "name": "Dm APC1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1451",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1451",
                    "type": "synonym"
                },
                {
                    "name": "apc 1",
                    "type": "synonym"
                },
                {
                    "name": "apc1",
                    "type": "synonym"
                },
                {
                    "name": "apc",
                    "type": "synonym"
                },
                {
                    "name": "d-APC",
                    "type": "synonym"
                },
                {
                    "name": "dAPC1",
                    "type": "synonym"
                },
                {
                    "name": "dAPC",
                    "type": "synonym"
                },
                {
                    "name": "dApc",
                    "type": "synonym"
                },
                {
                    "name": "dapc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAS9-1",
            "evidence": [
                {
                    "id": "0081218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081218"
}