{
    "disease_id": "DOID:0061048",
    "recommended_name": {
        "id": "DOID:0061048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061048",
        "name": "autosomal dominant intellectual developmental disorder 75",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0975838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975838",
            "name": "intellectual developmental disorder, autosomal dominant 75",
            "description": ""
        },
        {
            "id": "MIM:620988",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620988",
            "name": "Intellectual developmental disorder, autosomal dominant 75",
            "description": "Intellectual developmental disorder, autosomal dominant 75"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061048"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061048",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061048",
            "categories": []
        },
        {
            "id": "MONDO:0975838",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975838",
            "categories": []
        },
        {
            "id": "MIM:620988",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620988",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P3F9-1",
            "uniprot_ac": "A0A8M1P3F9",
            "uniprot_id": "A0A8M1P3F9_DANRE",
            "refseq_ac": "NP_001188373",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase A",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box helicase 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear DNA helicase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dhx9",
                    "type": "recommended"
                },
                {
                    "name": "dhx9",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-194i4.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe02c10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P3F9-1",
            "evidence": [
                {
                    "id": "0061048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70133-1",
            "uniprot_ac": "O70133",
            "uniprot_id": "DHX9_MOUSE",
            "refseq_ac": "NP_031868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase A",
                    "type": "synonym"
                },
                {
                    "name": "D-E-A-D (aspartate-glutamate-alanine-aspartate) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (aspartate-glutamate-alanine-aspartate) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 9",
                    "type": "synonym"
                },
                {
                    "name": "NDH II",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear DNA helicase II",
                    "type": "synonym"
                },
                {
                    "name": "RHA",
                    "type": "synonym"
                },
                {
                    "name": "RNA helicase A",
                    "type": "synonym"
                },
                {
                    "name": "leukophysin",
                    "type": "synonym"
                },
                {
                    "name": "mHEL-5",
                    "type": "synonym"
                },
                {
                    "name": "nuclear DNA helicase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhx9",
                    "type": "recommended"
                },
                {
                    "name": "Ddx9",
                    "type": "synonym"
                },
                {
                    "name": "Dhx9",
                    "type": "synonym"
                },
                {
                    "name": "HEL-5",
                    "type": "synonym"
                },
                {
                    "name": "NDHII",
                    "type": "synonym"
                },
                {
                    "name": "RHA",
                    "type": "synonym"
                },
                {
                    "name": "mHEL-5",
                    "type": "synonym"
                }
            ],
            "record_id": "O70133-1",
            "evidence": [
                {
                    "id": "0061048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08211-1",
            "uniprot_ac": "Q08211",
            "uniprot_id": "DHX9_HUMAN",
            "refseq_ac": "NP_001348",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase A",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box helicase 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH-box helicase 9",
                    "type": "synonym"
                },
                {
                    "name": "DExH-box helicase 9",
                    "type": "synonym"
                },
                {
                    "name": "LKP",
                    "type": "synonym"
                },
                {
                    "name": "Leukophysin",
                    "type": "synonym"
                },
                {
                    "name": "NDH II",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear DNA helicase II",
                    "type": "synonym"
                },
                {
                    "name": "RNA helicase A",
                    "type": "synonym"
                },
                {
                    "name": "leukophysin",
                    "type": "synonym"
                },
                {
                    "name": "nuclear DNA helicase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHX9",
                    "type": "recommended"
                },
                {
                    "name": "DDX9",
                    "type": "synonym"
                },
                {
                    "name": "DHX9",
                    "type": "synonym"
                },
                {
                    "name": "LKP",
                    "type": "synonym"
                },
                {
                    "name": "MRD75",
                    "type": "synonym"
                },
                {
                    "name": "NDH2",
                    "type": "synonym"
                },
                {
                    "name": "NDHII",
                    "type": "synonym"
                },
                {
                    "name": "RHA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08211-1",
            "evidence": [
                {
                    "id": "620988",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620988"
                },
                {
                    "id": "0061048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ABZ7-1",
            "uniprot_ac": "A0A8I6ABZ7",
            "uniprot_id": "A0A8I6ABZ7_RAT",
            "refseq_ac": "NP_001382485",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase A",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box helicase 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 9",
                    "type": "synonym"
                },
                {
                    "name": "DEAH-box helicase 9",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear DNA helicase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhx9",
                    "type": "recommended"
                },
                {
                    "name": "Dhx9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ABZ7-1",
            "evidence": [
                {
                    "id": "0061048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52500-1",
            "uniprot_ac": "P52500",
            "uniprot_id": "GRPR_RAT",
            "refseq_ac": "NP_036838",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gastrin-releasing peptide receptor",
                    "type": "recommended"
                },
                {
                    "name": "GRP-R",
                    "type": "synonym"
                },
                {
                    "name": "GRP-preferring bombesin receptor",
                    "type": "synonym"
                },
                {
                    "name": "gastrin-releasing peptide receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grpr",
                    "type": "recommended"
                },
                {
                    "name": "Grpr",
                    "type": "synonym"
                }
            ],
            "record_id": "P52500-1",
            "evidence": [
                {
                    "id": "0061048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24785-1",
            "uniprot_ac": "P24785",
            "uniprot_id": "MLE_DROME",
            "refseq_ac": "NP_476641",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dosage compensation regulator mle",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "CG11680-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein male-less",
                    "type": "synonym"
                },
                {
                    "name": "Protein maleless",
                    "type": "synonym"
                },
                {
                    "name": "Protein no action potential",
                    "type": "synonym"
                },
                {
                    "name": "male lethal",
                    "type": "synonym"
                },
                {
                    "name": "male-killer",
                    "type": "synonym"
                },
                {
                    "name": "male-lethal",
                    "type": "synonym"
                },
                {
                    "name": "maleless, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "maleless-no-action potential",
                    "type": "synonym"
                },
                {
                    "name": "maleless",
                    "type": "synonym"
                },
                {
                    "name": "mle-PA",
                    "type": "synonym"
                },
                {
                    "name": "no action potential",
                    "type": "synonym"
                },
                {
                    "name": "no-action-potential",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mle",
                    "type": "recommended"
                },
                {
                    "name": "CG11680",
                    "type": "synonym"
                },
                {
                    "name": "DDX9",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11680",
                    "type": "synonym"
                },
                {
                    "name": "MLE",
                    "type": "synonym"
                },
                {
                    "name": "Mle",
                    "type": "synonym"
                },
                {
                    "name": "dDHX9",
                    "type": "synonym"
                },
                {
                    "name": "mak",
                    "type": "synonym"
                },
                {
                    "name": "mle",
                    "type": "synonym"
                },
                {
                    "name": "mll",
                    "type": "synonym"
                },
                {
                    "name": "mls",
                    "type": "synonym"
                },
                {
                    "name": "nap[ts]",
                    "type": "synonym"
                },
                {
                    "name": "nap",
                    "type": "synonym"
                }
            ],
            "record_id": "P24785-1",
            "evidence": [
                {
                    "id": "0061048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061048"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061048"
}