{
    "disease_id": "DOID:0070041",
    "recommended_name": {
        "id": "DOID:0070041",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070041",
        "name": "autosomal dominant intellectual developmental disorder 11",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070041",
            "name": "MRD11",
            "description": ""
        },
        {
            "id": "DOID:0070041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070041",
            "name": "autosomal dominant mental retardation 11",
            "description": ""
        },
        {
            "id": "DOID:0070041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070041",
            "name": "autosomal dominant non-syndromic intellectual disability 11",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "intellectual disability, autosomal dominant 11",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene."
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "EPB41L1 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "MRD11",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "autosomal dominant intellectual disability 11",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "intellectual developmental disorder, autosomal dominant 11",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "intellectual disability, autosomal dominant 11",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "intellectual disability, autosomal dominant type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "mental retardation, autosomal dominant type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "name": "mental retardation, autosomal dominant 11",
            "description": ""
        },
        {
            "id": "MIM:614257",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614257",
            "name": "Intellectual developmental disorder, autosomal dominant 11",
            "description": "Intellectual developmental disorder, autosomal dominant 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070041"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070041",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070041",
            "categories": []
        },
        {
            "id": "MONDO:0013658",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013658",
            "categories": []
        },
        {
            "id": "MIM:614257",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614257",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TJ90-1",
            "uniprot_ac": "A0AB32TJ90",
            "uniprot_id": "A0AB32TJ90_DANRE",
            "refseq_ac": "XP_068072971",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein si:dkey-178k16.1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein si:dkey-178k16.1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-178k16.1",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-178k16.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TJ90-1",
            "evidence": [
                {
                    "id": "0070041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2H5-1",
            "uniprot_ac": "Q9Z2H5",
            "uniprot_id": "E41L1_MOUSE",
            "refseq_ac": "NP_001006665",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Band 4.1-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1N",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte membrane protein band 4.1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte protein band 4.1 like 1",
                    "type": "synonym"
                },
                {
                    "name": "neuronal protein 4.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epb41l1",
                    "type": "recommended"
                },
                {
                    "name": "4.1N",
                    "type": "synonym"
                },
                {
                    "name": "Epb4.1l1",
                    "type": "synonym"
                },
                {
                    "name": "Epb41l1",
                    "type": "synonym"
                },
                {
                    "name": "Epb4",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0338",
                    "type": "synonym"
                },
                {
                    "name": "NBL1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0338",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2H5-1",
            "evidence": [
                {
                    "id": "0070041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4G0-1",
            "uniprot_ac": "Q9H4G0",
            "uniprot_id": "E41L1_HUMAN",
            "refseq_ac": "NP_001245258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Band 4.1-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1N",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte membrane protein band 4.1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 1 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "neuron-type nonerythroid protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "neuronal protein 4.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPB41L1",
                    "type": "recommended"
                },
                {
                    "name": "4.1N",
                    "type": "synonym"
                },
                {
                    "name": "EPB41L1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0338",
                    "type": "synonym"
                },
                {
                    "name": "MRD11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4G0-1",
            "evidence": [
                {
                    "id": "614257",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614257"
                },
                {
                    "id": "0070041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WTP0-1",
            "uniprot_ac": "Q9WTP0",
            "uniprot_id": "E41L1_RAT",
            "refseq_ac": "NP_742087",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Band 4.1-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1N",
                    "type": "synonym"
                },
                {
                    "name": "Erythrocyte membrane protein band 4.1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 1 isoform S",
                    "type": "synonym"
                },
                {
                    "name": "band 4.1-like protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "erythrocyte protein band 4.1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "neuronal protein 4.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epb41l1",
                    "type": "recommended"
                },
                {
                    "name": "4.1N",
                    "type": "synonym"
                },
                {
                    "name": "Epb4.1l1",
                    "type": "synonym"
                },
                {
                    "name": "Epb41l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTP0-1",
            "evidence": [
                {
                    "id": "0070041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V8R9-1",
            "uniprot_ac": "Q9V8R9",
            "uniprot_id": "EPB41_DROME",
            "refseq_ac": "NP_523791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein 4.1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG11949-PA",
                    "type": "synonym"
                },
                {
                    "name": "D4.1-Coracle",
                    "type": "synonym"
                },
                {
                    "name": "Protein coracle",
                    "type": "synonym"
                },
                {
                    "name": "cora-PA",
                    "type": "synonym"
                },
                {
                    "name": "coracle, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "coracle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cora",
                    "type": "recommended"
                },
                {
                    "name": "CG11949",
                    "type": "synonym"
                },
                {
                    "name": "COR",
                    "type": "synonym"
                },
                {
                    "name": "Coracle",
                    "type": "synonym"
                },
                {
                    "name": "Cora",
                    "type": "synonym"
                },
                {
                    "name": "Cor",
                    "type": "synonym"
                },
                {
                    "name": "D4.1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11949",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11949",
                    "type": "synonym"
                },
                {
                    "name": "cora",
                    "type": "synonym"
                },
                {
                    "name": "cor",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08713",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_14526",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V8R9-1",
            "evidence": [
                {
                    "id": "0070041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070041"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070041"
}