{
    "disease_id": "DOID:0070033",
    "recommended_name": {
        "id": "DOID:0070033",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070033",
        "name": "autosomal dominant intellectual developmental disorder 3",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070033",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070033",
            "name": "MRD3",
            "description": ""
        },
        {
            "id": "DOID:0070033",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070033",
            "name": "autosomal dominant mental retardation 3",
            "description": ""
        },
        {
            "id": "DOID:0070033",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070033",
            "name": "autosomal dominant non-syndromic intellectual disability 3",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "intellectual disability, autosomal dominant 3",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene."
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "CDH15 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "MRD3",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "autosomal dominant intellectual disability 3",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "intellectual disability, autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "intellectual disability, autosomal dominant type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "mental retardation, autosomal dominant type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "name": "mental retardation, autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MIM:612580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612580",
            "name": "Intellectual developmental disorder, autosomal dominant 3",
            "description": "Intellectual developmental disorder, autosomal dominant 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070033"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070033",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070033",
            "categories": []
        },
        {
            "id": "MONDO:0012946",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012946",
            "categories": []
        },
        {
            "id": "MIM:612580",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612580",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QEL7-1",
            "uniprot_ac": "E9QEL7",
            "uniprot_id": "E9QEL7_DANRE",
            "refseq_ac": "NP_997771",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-15 precursor",
                    "type": "synonym"
                },
                {
                    "name": "M cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 15, M-cadherin (myotubule)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-15 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdh15",
                    "type": "recommended"
                },
                {
                    "name": "cdh15",
                    "type": "synonym"
                },
                {
                    "name": "fb48f12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb48f12",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QEL7-1",
            "evidence": [
                {
                    "id": "0070033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33146-1",
            "uniprot_ac": "P33146",
            "uniprot_id": "CAD15_MOUSE",
            "refseq_ac": "NP_031688",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin-14",
                    "type": "synonym"
                },
                {
                    "name": "M-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Muscle cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-14",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-15 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "muscle cadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh15",
                    "type": "recommended"
                },
                {
                    "name": "Cdh14",
                    "type": "synonym"
                },
                {
                    "name": "Cdh15",
                    "type": "synonym"
                },
                {
                    "name": "Mcad",
                    "type": "synonym"
                }
            ],
            "record_id": "P33146-1",
            "evidence": [
                {
                    "id": "0070033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55291-1",
            "uniprot_ac": "P55291",
            "uniprot_id": "CAD15_HUMAN",
            "refseq_ac": "NP_004924",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin-14",
                    "type": "synonym"
                },
                {
                    "name": "M-cadherin",
                    "type": "synonym"
                },
                {
                    "name": "Muscle cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 15, type 1, M-cadherin (myotubule)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-14",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-15 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-3",
                    "type": "synonym"
                },
                {
                    "name": "muscle-cadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH15",
                    "type": "recommended"
                },
                {
                    "name": "CDH14",
                    "type": "synonym"
                },
                {
                    "name": "CDH15",
                    "type": "synonym"
                },
                {
                    "name": "CDH3",
                    "type": "synonym"
                },
                {
                    "name": "CDHM",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                },
                {
                    "name": "MRD3",
                    "type": "synonym"
                }
            ],
            "record_id": "P55291-1",
            "evidence": [
                {
                    "id": "612580",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612580"
                },
                {
                    "id": "0070033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AM66-1",
            "uniprot_ac": "A0A8I6AM66",
            "uniprot_id": "A0A8I6AM66_RAT",
            "refseq_ac": "XP_038953807",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin-14",
                    "type": "synonym"
                },
                {
                    "name": "Muscle cadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-15 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh15",
                    "type": "recommended"
                },
                {
                    "name": "Cdh15",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AM66-1",
            "evidence": [
                {
                    "id": "0070033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070033"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070033"
}