{
    "disease_id": "DOID:0070051",
    "recommended_name": {
        "id": "DOID:0070051",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070051",
        "name": "autosomal dominant intellectual developmental disorder 21",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070051",
            "name": "MRD21",
            "description": ""
        },
        {
            "id": "DOID:0070051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070051",
            "name": "autosomal dominant mental retardation 21",
            "description": ""
        },
        {
            "id": "DOID:0070051",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070051",
            "name": "autosomal dominant non-syndromic intellectual disability 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "CTCF-related neurodevelopmental disorder",
            "description": "A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss."
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "MRD21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual development disorder, autosomal dominant 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual disability, autosomal dominant 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual disability, autosomal dominant type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "mental retardation, autosomal dominant 21",
            "description": ""
        },
        {
            "id": "MONDO:0014213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "name": "mental retardation, autosomal dominant type 21",
            "description": ""
        },
        {
            "id": "MIM:615502",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615502",
            "name": "Intellectual developmental disorder, autosomal dominant 21",
            "description": "Intellectual developmental disorder, autosomal dominant 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070051"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070051",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070051",
            "categories": []
        },
        {
            "id": "MONDO:0014213",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014213",
            "categories": []
        },
        {
            "id": "MIM:615502",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615502",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T4N5-1",
            "uniprot_ac": "A0AB32T4N5",
            "uniprot_id": "A0AB32T4N5_DANRE",
            "refseq_ac": "XP_068070854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor CTCF",
                    "type": "recommended"
                },
                {
                    "name": "11-zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "CTCFL paralog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCF isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ctcf",
                    "type": "recommended"
                },
                {
                    "name": "ctcf",
                    "type": "synonym"
                },
                {
                    "name": "im:7152666",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T4N5-1",
            "evidence": [
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61164-1",
            "uniprot_ac": "Q61164",
            "uniprot_id": "CTCF_MOUSE",
            "refseq_ac": "NP_851839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor CTCF",
                    "type": "recommended"
                },
                {
                    "name": "11-zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "CTCFL paralog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCF isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctcf",
                    "type": "recommended"
                },
                {
                    "name": "Ctcf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61164-1",
            "evidence": [
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2APF3-1",
            "uniprot_ac": "A2APF3",
            "uniprot_id": "CTCFL_MOUSE",
            "refseq_ac": "NP_001074856",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor CTCFL",
                    "type": "recommended"
                },
                {
                    "name": "BORIS",
                    "type": "synonym"
                },
                {
                    "name": "Brother of the regulator of imprinted sites",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor (zinc finger protein)-like",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "CTCF paralog",
                    "type": "synonym"
                },
                {
                    "name": "CTCF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional repressor CTCFL",
                    "type": "synonym"
                },
                {
                    "name": "likely orthologue of H. sapiens CCCTC-binding factor-like protein (CTCFL)",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCFL isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctcfl",
                    "type": "recommended"
                },
                {
                    "name": "Boris",
                    "type": "synonym"
                },
                {
                    "name": "Ctcfl",
                    "type": "synonym"
                }
            ],
            "record_id": "A2APF3-1",
            "evidence": [
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49711-1",
            "uniprot_ac": "P49711",
            "uniprot_id": "CTCF_HUMAN",
            "refseq_ac": "NP_001177951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor CTCF",
                    "type": "recommended"
                },
                {
                    "name": "11 zinc finger transcriptional repressor",
                    "type": "synonym"
                },
                {
                    "name": "11-zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor (zinc finger protein)",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "CTCFL paralog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCF isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTCF",
                    "type": "recommended"
                },
                {
                    "name": "CFAP108",
                    "type": "synonym"
                },
                {
                    "name": "CTCF",
                    "type": "synonym"
                },
                {
                    "name": "FAP108",
                    "type": "synonym"
                },
                {
                    "name": "MRD21",
                    "type": "synonym"
                }
            ],
            "record_id": "P49711-1",
            "evidence": [
                {
                    "id": "615502",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615502"
                },
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1D1-1",
            "uniprot_ac": "Q9R1D1",
            "uniprot_id": "CTCF_RAT",
            "refseq_ac": "NP_114012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor CTCF",
                    "type": "recommended"
                },
                {
                    "name": "11-zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor (zinc finger protein)",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "CTCFL paralog",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctcf",
                    "type": "recommended"
                },
                {
                    "name": "Ctcf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1D1-1",
            "evidence": [
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQ48-1",
            "uniprot_ac": "D3ZQ48",
            "uniprot_id": "D3ZQ48_RAT",
            "refseq_ac": "NP_001309415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCCTC-binding factor",
                    "type": "recommended"
                },
                {
                    "name": "CCCTC-binding factor (zinc finger protein)-like",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCFL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctcfl1",
                    "type": "recommended"
                },
                {
                    "name": "Ctcfl1",
                    "type": "synonym"
                },
                {
                    "name": "Ctcfl",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQ48-1",
            "evidence": [
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS55-1",
            "uniprot_ac": "Q9VS55",
            "uniprot_id": "Q9VS55_DROME",
            "refseq_ac": "NP_648109",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCCTC-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "CG8591-PA",
                    "type": "synonym"
                },
                {
                    "name": "CTCF-PA",
                    "type": "synonym"
                },
                {
                    "name": "CTCF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTCF",
                    "type": "recommended"
                },
                {
                    "name": "CG8591",
                    "type": "synonym"
                },
                {
                    "name": "CTCF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8591",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8591",
                    "type": "synonym"
                },
                {
                    "name": "dCTCF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS55-1",
            "evidence": [
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NI51-1",
            "uniprot_ac": "Q8NI51",
            "uniprot_id": "CTCFL_HUMAN",
            "refseq_ac": "NP_001255969",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor CTCFL",
                    "type": "recommended"
                },
                {
                    "name": "BORIS-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Brother of the regulator of imprinted sites",
                    "type": "synonym"
                },
                {
                    "name": "CCCTC-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "CT27",
                    "type": "synonym"
                },
                {
                    "name": "CTCF paralog",
                    "type": "synonym"
                },
                {
                    "name": "CTCF-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 27",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein CTCF-T",
                    "type": "synonym"
                },
                {
                    "name": "brother of the regulator of imprinted sites",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 27",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor CTCFL isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTCFL",
                    "type": "recommended"
                },
                {
                    "name": "BORIS",
                    "type": "synonym"
                },
                {
                    "name": "CT27",
                    "type": "synonym"
                },
                {
                    "name": "CTCF-T",
                    "type": "synonym"
                },
                {
                    "name": "CTCFL",
                    "type": "synonym"
                },
                {
                    "name": "HMGB1L1",
                    "type": "synonym"
                },
                {
                    "name": "dJ579F20.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NI51-1",
            "evidence": [
                {
                    "id": "0070051",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070051"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070051"
}