{
    "disease_id": "DOID:0080231",
    "recommended_name": {
        "id": "DOID:0080231",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080231",
        "name": "autosomal dominant intellectual developmental disorder 52",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080231",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080231",
            "name": "autosomal dominant mental retardation 52",
            "description": ""
        },
        {
            "id": "MONDO:0030918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030918",
            "name": "intellectual disability, autosomal dominant 52",
            "description": ""
        },
        {
            "id": "MONDO:0030918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030918",
            "name": "intellectual disability, autosomal dominant 52",
            "description": ""
        },
        {
            "id": "MONDO:0030918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030918",
            "name": "MRD52",
            "description": ""
        },
        {
            "id": "MONDO:0030918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030918",
            "name": "autosomal dominant mental retardation 52",
            "description": ""
        },
        {
            "id": "MONDO:0030918",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030918",
            "name": "mental retardation, autosomal dominant 52",
            "description": ""
        },
        {
            "id": "MIM:617796",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617796",
            "name": "Intellectual developmental disorder, autosomal dominant 52",
            "description": "Intellectual developmental disorder, autosomal dominant 52"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080231",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080231",
            "categories": []
        },
        {
            "id": "MONDO:0030918",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030918",
            "categories": []
        },
        {
            "id": "MIM:617796",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617796",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99MY8-1",
            "uniprot_ac": "Q99MY8",
            "uniprot_id": "ASH1L_MOUSE",
            "refseq_ac": "NP_619620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase ASH1L",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.367",
                    "type": "synonym"
                },
                {
                    "name": "ASH1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Absent small and homeotic disks protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "absent small and homeotic disks protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "absent, small, or homeotic discs 1",
                    "type": "synonym"
                },
                {
                    "name": "ash1 (absent, small, or homeotic)-like",
                    "type": "synonym"
                },
                {
                    "name": "chromatin remodeling factor",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase ASH1L",
                    "type": "synonym"
                },
                {
                    "name": "probable histone-lysine N-methyltransferase ASH1L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ash1l",
                    "type": "recommended"
                },
                {
                    "name": "8030453L17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ash1l",
                    "type": "synonym"
                },
                {
                    "name": "Ash1",
                    "type": "synonym"
                },
                {
                    "name": "E430018P19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kmt2h",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MY8-1",
            "evidence": [
                {
                    "id": "0080231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR48-1",
            "uniprot_ac": "Q9NR48",
            "uniprot_id": "ASH1L_HUMAN",
            "refseq_ac": "NP_060959",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase ASH1L",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.367",
                    "type": "synonym"
                },
                {
                    "name": "ASH1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Absent small and homeotic disks protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2H",
                    "type": "synonym"
                },
                {
                    "name": "absent small and homeotic disks protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ash1 (absent, small, or homeotic)-like",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase ASH1L isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "huASH1",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 2H",
                    "type": "synonym"
                },
                {
                    "name": "probable histone-lysine N-methyltransferase ASH1L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ASH1L",
                    "type": "recommended"
                },
                {
                    "name": "ASH1L1",
                    "type": "synonym"
                },
                {
                    "name": "ASH1L",
                    "type": "synonym"
                },
                {
                    "name": "ASH1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1420",
                    "type": "synonym"
                },
                {
                    "name": "KMT2H",
                    "type": "synonym"
                },
                {
                    "name": "MRD52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR48-1",
            "evidence": [
                {
                    "id": "617796",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617796"
                },
                {
                    "id": "0080231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZKH4-1",
            "uniprot_ac": "D3ZKH4",
            "uniprot_id": "D3ZKH4_RAT",
            "refseq_ac": "XP_008759376",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase ASH1L",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.367",
                    "type": "synonym"
                },
                {
                    "name": "ASH1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Absent small and homeotic disks protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase ASH1L isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ash1l",
                    "type": "recommended"
                },
                {
                    "name": "Ash1l",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZKH4-1",
            "evidence": [
                {
                    "id": "0080231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080231"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW15-1",
            "uniprot_ac": "Q9VW15",
            "uniprot_id": "ASH1_DROME",
            "refseq_ac": "NP_001246834",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase ash1",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.354",
                    "type": "synonym"
                },
                {
                    "name": "Absent small and homeotic disks protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Absent, small or homeotic 1",
                    "type": "synonym"
                },
                {
                    "name": "Absent, small or homeotic discs 1",
                    "type": "synonym"
                },
                {
                    "name": "Absent, small, or homeotic disc 1",
                    "type": "synonym"
                },
                {
                    "name": "CG8887-PC",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2H",
                    "type": "synonym"
                },
                {
                    "name": "absent small or homeotic 1",
                    "type": "synonym"
                },
                {
                    "name": "absent, small, or homeotic discs 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ash1-PC",
                    "type": "synonym"
                },
                {
                    "name": "discs absent, small, or homeotic-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ash1",
                    "type": "recommended"
                },
                {
                    "name": "ASH-1",
                    "type": "synonym"
                },
                {
                    "name": "ASH1",
                    "type": "synonym"
                },
                {
                    "name": "Ash 1",
                    "type": "synonym"
                },
                {
                    "name": "Ash1",
                    "type": "synonym"
                },
                {
                    "name": "Ash",
                    "type": "synonym"
                },
                {
                    "name": "CG8887",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8887",
                    "type": "synonym"
                },
                {
                    "name": "KMT2H",
                    "type": "synonym"
                },
                {
                    "name": "ash-1",
                    "type": "synonym"
                },
                {
                    "name": "ash1",
                    "type": "synonym"
                },
                {
                    "name": "ash",
                    "type": "synonym"
                },
                {
                    "name": "dash",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDb",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SG29a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW15-1",
            "evidence": [
                {
                    "id": "0080231",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080231"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080231"
}