{
    "disease_id": "DOID:0070073",
    "recommended_name": {
        "id": "DOID:0070073",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070073",
        "name": "autosomal dominant intellectual developmental disorder 43",
        "description": "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070073",
            "name": "MRD43",
            "description": ""
        },
        {
            "id": "DOID:0070073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070073",
            "name": "autosomal dominant mental retardation 43",
            "description": ""
        },
        {
            "id": "DOID:0070073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070073",
            "name": "autosomal dominant non-syndromic intellectual disability 43",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "intellectual disability, autosomal dominant 43",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene."
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "HIVEP2 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "MRD43",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "autosomal dominant intellectual disability 43",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "intellectual disability, autosomal dominant 43",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "intellectual disability, autosomal dominant type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "mental retardation, autosomal dominant 43",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "mental retardation, autosomal dominant type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "HIVEP2-related intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "name": "autosomal dominant intellectual disability-43",
            "description": ""
        },
        {
            "id": "MIM:616977",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616977",
            "name": "Intellectual developmental disorder, autosomal dominant 43",
            "description": "Intellectual developmental disorder, autosomal dominant 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070073"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070073",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070073",
            "categories": []
        },
        {
            "id": "MONDO:0014858",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014858",
            "categories": []
        },
        {
            "id": "MIM:616977",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616977",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PEH8-1",
            "uniprot_ac": "A0A8M9PEH8",
            "uniprot_id": "A0A8M9PEH8_DANRE",
            "refseq_ac": "XP_005158638",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor HIVEP2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HIVEP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hivep2b",
                    "type": "recommended"
                },
                {
                    "name": "hivep2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PEH8-1",
            "evidence": [
                {
                    "id": "0070073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B7M4-1",
            "uniprot_ac": "A0A8M2B7M4",
            "uniprot_id": "A0A8M2B7M4_DANRE",
            "refseq_ac": "XP_068071600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor HIVEP2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HIVEP2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hivep2a",
                    "type": "recommended"
                },
                {
                    "name": "hivep2a",
                    "type": "synonym"
                },
                {
                    "name": "hivep2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-157m21.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B7M4-1",
            "evidence": [
                {
                    "id": "0070073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UHF7-1",
            "uniprot_ac": "Q3UHF7",
            "uniprot_id": "ZEP2_MOUSE",
            "refseq_ac": "NP_034567",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor HIVEP2",
                    "type": "recommended"
                },
                {
                    "name": "Human immunodeficiency virus type I enhancer-binding protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "MIBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Myc intron-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "human immunodeficiency virus type I enhancer-binding protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "myc intron-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HIVEP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hivep2",
                    "type": "recommended"
                },
                {
                    "name": "Gm20114",
                    "type": "synonym"
                },
                {
                    "name": "Hivep2",
                    "type": "synonym"
                },
                {
                    "name": "MIBP-1",
                    "type": "synonym"
                },
                {
                    "name": "MIBP1",
                    "type": "synonym"
                },
                {
                    "name": "Mibp1",
                    "type": "synonym"
                },
                {
                    "name": "Schnurri-2",
                    "type": "synonym"
                },
                {
                    "name": "Shn-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UHF7-1",
            "evidence": [
                {
                    "id": "0070073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31629-1",
            "uniprot_ac": "P31629",
            "uniprot_id": "ZEP2_HUMAN",
            "refseq_ac": "NP_006725",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor HIVEP2",
                    "type": "recommended"
                },
                {
                    "name": "HIV-EP2",
                    "type": "synonym"
                },
                {
                    "name": "Human immunodeficiency virus type I enhancer-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "MBP-2",
                    "type": "synonym"
                },
                {
                    "name": "MHC binding protein-2",
                    "type": "synonym"
                },
                {
                    "name": "MHC-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Schnurri-2",
                    "type": "synonym"
                },
                {
                    "name": "c-myc intron binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "human immunodeficiency virus type I enhancer binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HIVEP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HIVEP2",
                    "type": "recommended"
                },
                {
                    "name": "HIV-EP2",
                    "type": "synonym"
                },
                {
                    "name": "HIVEP2",
                    "type": "synonym"
                },
                {
                    "name": "MBP-2",
                    "type": "synonym"
                },
                {
                    "name": "MIBP1",
                    "type": "synonym"
                },
                {
                    "name": "MRD43",
                    "type": "synonym"
                },
                {
                    "name": "SHN2",
                    "type": "synonym"
                },
                {
                    "name": "ZAS2",
                    "type": "synonym"
                },
                {
                    "name": "ZNF40B",
                    "type": "synonym"
                }
            ],
            "record_id": "P31629-1",
            "evidence": [
                {
                    "id": "616977",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616977"
                },
                {
                    "id": "0070073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00900-1",
            "uniprot_ac": "Q00900",
            "uniprot_id": "ZEP2_RAT",
            "refseq_ac": "NP_077051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Human immunodeficiency virus type I enhancer-binding protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Angiotensinogen gene-inducible enhancer-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein AGIE-BP1",
                    "type": "synonym"
                },
                {
                    "name": "MIBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Myc intron-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "angiotensinogen gene-inducible enhancer-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "c-myc intron binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "human immunodeficiency virus type 1 enhancer-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "human immunodeficiency virus type I enhancer binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "human immunodeficiency virus type I enhancer-binding protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "myc intron-binding protein 1",
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                }
            ],
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                {
                    "name": "Hivep2",
                    "type": "recommended"
                },
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                    "name": "Agie-bp1",
                    "type": "synonym"
                },
                {
                    "name": "Hivep2",
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                    "id": "0070073",
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            "uniprot_canonical_ac": "A1Z8F4-1",
            "uniprot_ac": "A1Z8F4",
            "uniprot_id": "SCHNR_DROME",
            "refseq_ac": "NP_001260882",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein schnurri",
                    "type": "recommended"
                },
                {
                    "name": "CG7734-PE",
                    "type": "synonym"
                },
                {
                    "name": "quo vadis",
                    "type": "synonym"
                },
                {
                    "name": "schnurri, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "schnurri",
                    "type": "synonym"
                },
                {
                    "name": "shn-PE",
                    "type": "synonym"
                },
                {
                    "name": "umnitza",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shn",
                    "type": "recommended"
                },
                {
                    "name": "BEST:SD06302",
                    "type": "synonym"
                },
                {
                    "name": "CG7734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7734",
                    "type": "synonym"
                },
                {
                    "name": "EP(2)2359",
                    "type": "synonym"
                },
                {
                    "name": "EP2359",
                    "type": "synonym"
                },
                {
                    "name": "SD06302",
                    "type": "synonym"
                },
                {
                    "name": "SHN",
                    "type": "synonym"
                },
                {
                    "name": "Schnurri",
                    "type": "synonym"
                },
                {
                    "name": "Shn",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04738",
                    "type": "synonym"
                },
                {
                    "name": "quo",
                    "type": "synonym"
                },
                {
                    "name": "shn",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8F4-1",
            "evidence": [
                {
                    "id": "0070073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070073"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070073"
}