{
    "disease_id": "DOID:0070652",
    "recommended_name": {
        "id": "DOID:0070652",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070652",
        "name": "Nil-Deshwar neurodevelopmental syndrome",
        "description": "A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0979246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979246",
            "name": "Nil-Deshwar neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "MIM:621265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621265",
            "name": "Nil-Deshwar neurodevelopmental syndrome",
            "description": "Nil-Deshwar neurodevelopmental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070652"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070652",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070652",
            "categories": []
        },
        {
            "id": "MONDO:0979246",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979246",
            "categories": []
        },
        {
            "id": "MIM:621265",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621265",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58II20-1",
            "uniprot_ac": "A0AC58II20",
            "uniprot_id": "A0AC58II20_DANRE",
            "refseq_ac": "XP_073793894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.360",
                    "type": "synonym"
                },
                {
                    "name": "Histone H3-K79 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dot1l",
                    "type": "recommended"
                },
                {
                    "name": "dot1l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58II20-1",
            "evidence": [
                {
                    "id": "0070652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XZL8-1",
            "uniprot_ac": "Q6XZL8",
            "uniprot_id": "DOT1L_MOUSE",
            "refseq_ac": "NP_955354",
            "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, H3 lysine-79 specific",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.360",
                    "type": "synonym"
                },
                {
                    "name": "DOT1-like histone H3 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "DOT1-like, histone H3 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "histone H3 methyltransferase DOT1",
                    "type": "synonym"
                },
                {
                    "name": "histone methyltransferase DOT1L",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dot1l",
                    "type": "recommended"
                },
                {
                    "name": "A630076O07",
                    "type": "synonym"
                },
                {
                    "name": "Dot1l",
                    "type": "synonym"
                },
                {
                    "name": "Dot1",
                    "type": "synonym"
                },
                {
                    "name": "KMT4",
                    "type": "synonym"
                },
                {
                    "name": "mDot1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XZL8-1",
            "evidence": [
                {
                    "id": "0070652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TEK3-2",
            "uniprot_ac": "Q8TEK3",
            "uniprot_id": "DOT1L_HUMAN",
            "refseq_ac": "NP_115871",
            "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, H3 lysine-79 specific",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.360",
                    "type": "synonym"
                },
                {
                    "name": "DOT1 like histone H3K79 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "DOT1-like histone methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "DOT1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "DOT1-like, histone H3 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Disruptor of telomeric silencing 1-like histone lysine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "H3-K79-HMTase",
                    "type": "synonym"
                },
                {
                    "name": "Histone H3-K79 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "disruptor of telomeric silencing 1-like histone lysine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "histone H3-K79 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "histone methyltransferase DOT1L",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOT1L",
                    "type": "recommended"
                },
                {
                    "name": "DOT1L",
                    "type": "synonym"
                },
                {
                    "name": "DOT1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1814",
                    "type": "synonym"
                },
                {
                    "name": "KMT4",
                    "type": "synonym"
                },
                {
                    "name": "NDNS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TEK3-2",
            "evidence": [
                {
                    "id": "621265",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621265"
                },
                {
                    "id": "0070652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04089-1",
            "uniprot_ac": "Q04089",
            "uniprot_id": "DOT1_YEAST",
            "refseq_ac": "NP_010728",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.360",
                    "type": "synonym"
                },
                {
                    "name": "Disrupter of telomere silencing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "H3-K79-HMTase",
                    "type": "synonym"
                },
                {
                    "name": "Histone H3-K79 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 4",
                    "type": "synonym"
                },
                {
                    "name": "ScDOT1",
                    "type": "synonym"
                },
                {
                    "name": "histone methyltransferase DOT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOT1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.26",
                    "type": "synonym"
                },
                {
                    "name": "DOT1",
                    "type": "synonym"
                },
                {
                    "name": "KMT4",
                    "type": "synonym"
                },
                {
                    "name": "PCH1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04089-1",
            "evidence": [
                {
                    "id": "0070652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZRT2-1",
            "uniprot_ac": "A0A8I5ZRT2",
            "uniprot_id": "A0A8I5ZRT2_RAT",
            "refseq_ac": "NP_001102203",
            "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, H3 lysine-79 specific",
                    "type": "recommended"
                },
                {
                    "name": "DOT1-like histone H3K79 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "DOT1-like, histone H3 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dot1l",
                    "type": "recommended"
                },
                {
                    "name": "Dot1l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZRT2-1",
            "evidence": [
                {
                    "id": "0070652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070652"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INR6-1",
            "uniprot_ac": "Q8INR6",
            "uniprot_id": "DOT1L_DROME",
            "refseq_ac": "NP_649655",
            "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, H3 lysine-79 specific",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.360",
                    "type": "synonym"
                },
                {
                    "name": "CG42803-PE",
                    "type": "synonym"
                },
                {
                    "name": "DOT1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "H3-K79-HMTase",
                    "type": "synonym"
                },
                {
                    "name": "Histone H3-K79 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Protein grappa",
                    "type": "synonym"
                },
                {
                    "name": "dDOT1L",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of NA9 3-1",
                    "type": "synonym"
                },
                {
                    "name": "gpp-PE",
                    "type": "synonym"
                },
                {
                    "name": "grappa, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "grappa",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S073214b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gpp",
                    "type": "recommended"
                },
                {
                    "name": "0732/14",
                    "type": "synonym"
                },
                {
                    "name": "14",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD05230",
                    "type": "synonym"
                },
                {
                    "name": "CG10272",
                    "type": "synonym"
                },
                {
                    "name": "CG33324",
                    "type": "synonym"
                },
                {
                    "name": "CG42803",
                    "type": "synonym"
                },
                {
                    "name": "DOT1L",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42803",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42803",
                    "type": "synonym"
                },
                {
                    "name": "EN3-1",
                    "type": "synonym"
                },
                {
                    "name": "Gpp",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.319",
                    "type": "synonym"
                },
                {
                    "name": "dDOT1L",
                    "type": "synonym"
                },
                {
                    "name": "dDot1",
                    "type": "synonym"
                },
                {
                    "name": "gpp",
                    "type": "synonym"
                },
                {
                    "name": "grp",
                    "type": "synonym"
                },
                {
                    "name": "l(3)03342",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S073214b",
                    "type": "synonym"
                },
                {
                    "name": "l(3)sA3484",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INR6-1",
            "evidence": [
                {
                    "id": "0070652",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070652"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070652"
}