{
    "disease_id": "DOID:0081202",
    "recommended_name": {
        "id": "DOID:0081202",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081202",
        "name": "autosomal recessive intellectual developmental disorder 37",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "name": "intellectual disability-hypotonia-spasticity-sleep disorder syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "name": "intellectual disability, autosomal recessive type 37",
            "description": ""
        },
        {
            "id": "MONDO:0014210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "name": "mental retardation, autosomal recessive type 37",
            "description": ""
        },
        {
            "id": "MONDO:0014210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "name": "mental retardation, autosomal recessive, 37",
            "description": ""
        },
        {
            "id": "MONDO:0014210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "name": "MRT37",
            "description": ""
        },
        {
            "id": "MONDO:0014210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "name": "intellectual disability, autosomal recessive 37",
            "description": ""
        },
        {
            "id": "MONDO:0014210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "name": "mental retardation, autosomal recessive 37",
            "description": ""
        },
        {
            "id": "MIM:615493",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615493",
            "name": "Intellectual developmental disorder, autosomal recessive 37",
            "description": "Intellectual developmental disorder, autosomal recessive 37"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081202"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081202",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081202",
            "categories": []
        },
        {
            "id": "MONDO:0014210",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014210",
            "categories": []
        },
        {
            "id": "MIM:615493",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615493",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GX00-1",
            "uniprot_ac": "A0AC58GX00",
            "uniprot_id": "A0AC58GX00_DANRE",
            "refseq_ac": "XP_073774246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ank3b",
                    "type": "recommended"
                },
                {
                    "name": "ank3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GX00-1",
            "evidence": [
                {
                    "id": "0081202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G5E8K5-1",
            "uniprot_ac": "G5E8K5",
            "uniprot_id": "ANK3_MOUSE",
            "refseq_ac": "NP_033800",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-3",
                    "type": "recommended"
                },
                {
                    "name": "ANK-3",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-G",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-3 isoform g",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific ankyrin-G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ank3",
                    "type": "recommended"
                },
                {
                    "name": "2900054D09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ank-3",
                    "type": "synonym"
                },
                {
                    "name": "Ank3",
                    "type": "synonym"
                },
                {
                    "name": "AnkG",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-3",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-G",
                    "type": "synonym"
                }
            ],
            "record_id": "G5E8K5-1",
            "evidence": [
                {
                    "id": "0081202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12955-3",
            "uniprot_ac": "Q12955",
            "uniprot_id": "ANK3_HUMAN",
            "refseq_ac": "NP_001140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-3",
                    "type": "recommended"
                },
                {
                    "name": "ANK-3",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-G",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin 3, node of Ranvier (ankyrin G)",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANK3",
                    "type": "recommended"
                },
                {
                    "name": "ANK3",
                    "type": "synonym"
                },
                {
                    "name": "ANKYRIN-G",
                    "type": "synonym"
                },
                {
                    "name": "MRT37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12955-3",
            "evidence": [
                {
                    "id": "615493",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615493"
                },
                {
                    "id": "0081202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70511-1",
            "uniprot_ac": "O70511",
            "uniprot_id": "ANK3_RAT",
            "refseq_ac": "NP_001029156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin-3",
                    "type": "recommended"
                },
                {
                    "name": "ANK-3",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin-G",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin 3 (G)",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin 3, epithelial",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin 3, node of Ranvier (ankyrin G)",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ank3",
                    "type": "recommended"
                },
                {
                    "name": "ANK-3",
                    "type": "synonym"
                },
                {
                    "name": "Ank3",
                    "type": "synonym"
                }
            ],
            "record_id": "O70511-1",
            "evidence": [
                {
                    "id": "0081202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081202"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KIE7-1",
            "uniprot_ac": "Q0KIE7",
            "uniprot_id": "Q0KIE7_DROME",
            "refseq_ac": "NP_001162819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ank-PE",
                    "type": "synonym"
                },
                {
                    "name": "Ank1",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Ankyrin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "CG1651-PE",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ank",
                    "type": "recommended"
                },
                {
                    "name": "ANK",
                    "type": "synonym"
                },
                {
                    "name": "Ank",
                    "type": "synonym"
                },
                {
                    "name": "CG1651",
                    "type": "synonym"
                },
                {
                    "name": "CG32008",
                    "type": "synonym"
                },
                {
                    "name": "DAnk1",
                    "type": "synonym"
                },
                {
                    "name": "Dank1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1651",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1651",
                    "type": "synonym"
                },
                {
                    "name": "ank",
                    "type": "synonym"
                },
                {
                    "name": "dank1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KIE7-1",
            "evidence": [
                {
                    "id": "0081202",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081202"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081202"
}