{
    "disease_id": "DOID:0060352",
    "recommended_name": {
        "id": "DOID:0060352",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060352",
        "name": "Kleefstra syndrome 1",
        "description": "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region."
    },
    "synonyms": [
        {
            "id": "DOID:0060352",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060352",
            "name": "9q subtelomeric deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060352",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060352",
            "name": "9q-syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060352",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060352",
            "name": "9q34 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome 1",
            "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3."
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "9q-syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "KLEFS1",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "chromosome 9q34.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:610253",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610253",
            "name": "Kleefstra syndrome 1",
            "description": "Kleefstra syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060352"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060352",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060352",
            "categories": []
        },
        {
            "id": "MONDO:0027407",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "categories": []
        },
        {
            "id": "MIM:610253",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610253",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M9P384",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
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                    "name": "Histone-lysine N-methyltransferase EHMT1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase EHMT1 isoform X1",
                    "type": "synonym"
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            ],
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                    "name": "ehmt1b",
                    "type": "recommended"
                },
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                    "name": "ehmt1b",
                    "type": "synonym"
                }
            ],
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                    "id": "0060352",
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                }
            ]
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                {
                    "name": "Histone-lysine N-methyltransferase EHMT1a isoform X1",
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                },
                {
                    "name": "histone-lysine N-methyltransferase EHMT1a isoform X1",
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                }
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                {
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                    "type": "synonym"
                }
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                    "id": "0060352",
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            ],
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                    "type": "synonym"
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            ],
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                    "name": "Ehmt1",
                    "type": "recommended"
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                    "name": "9230102N17Rik",
                    "type": "synonym"
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                {
                    "name": "D330003E03",
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                },
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                    "type": "synonym"
                },
                {
                    "name": "GLP1",
                    "type": "synonym"
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                    "name": "GLP",
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                },
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                    "name": "KMT1D",
                    "type": "synonym"
                },
                {
                    "name": "Kmt1d",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1876",
                    "type": "synonym"
                }
            ],
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                    "id": "0060352",
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                }
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                }
            ],
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                    "name": "2.1.1.367",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "Protein G9a",
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                {
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "histone-lysine N-methyltransferase EHMT2",
                    "type": "synonym"
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                    "name": "histone-lysine N-methyltransferase, H3 lysine-9 specific 3",
                    "type": "synonym"
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                    "type": "synonym"
                }
            ],
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                    "name": "Bat8",
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                },
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                    "name": "D17Ertd710e",
                    "type": "synonym"
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                {
                    "name": "Ehmt2",
                    "type": "synonym"
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                {
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                    "name": "KMT1C",
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                    "name": "NG36",
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                    "id": "0060352",
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                    "taxid": 9606,
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                }
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                    "name": "Histone H3-K9 methyltransferase 5",
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                    "id": "0060352",
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                    "id": "0060352",
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            "uniprot_canonical_ac": "M9PGH7-1",
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                    "name": "Drosophila melanogaster",
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                    "name": "2.1.1.371",
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                    "name": "G9ae",
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                    "name": "cab65850 G9a Dm",
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                    "name": "dG9a",
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                    "id": "0060352",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
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                    "name": "Lysine N-methyltransferase 1C",
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                    "name": "ankyrin repeat-containing protein",
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                },
                {
                    "name": "histone-lysine N-methyltransferase, H3 lysine-9 specific 3",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 1C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EHMT2",
                    "type": "recommended"
                },
                {
                    "name": "BAT8",
                    "type": "synonym"
                },
                {
                    "name": "C6orf30",
                    "type": "synonym"
                },
                {
                    "name": "EHMT2",
                    "type": "synonym"
                },
                {
                    "name": "G9A",
                    "type": "synonym"
                },
                {
                    "name": "GAT8",
                    "type": "synonym"
                },
                {
                    "name": "KMT1C",
                    "type": "synonym"
                },
                {
                    "name": "NG36",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96KQ7-1",
            "evidence": [
                {
                    "id": "0060352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060352"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060352"
}