{
    "disease_id": "DOID:0060307",
    "recommended_name": {
        "id": "DOID:0060307",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060307",
        "name": "autosomal dominant intellectual developmental disorder",
        "description": "A intellectual disability characterized by an autosomal dominant inheritance pattern."
    },
    "synonyms": [
        {
            "id": "DOID:0060307",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060307",
            "name": "autosomal dominant mental retardation",
            "description": ""
        },
        {
            "id": "DOID:0060307",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060307",
            "name": "autosomal dominant non-syndromic mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "intellectual disability, autosomal dominant 1",
            "description": "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures."
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "MBD5 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "MRD1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "autosomal dominant intellectual disability 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "intellectual disability, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "intellectual disability, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "mental retardation, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007974",
            "name": "mental retardation, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MIM:156200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156200",
            "name": "Intellectual developmental disorder, autosomal dominant 1",
            "description": "Intellectual developmental disorder, autosomal dominant 1"
        }
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        {
            "id": "DOID:0051010",
            "label": "Bryant-Li-Bhoj neurodevelopmental syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0051011",
                    "label": "Bryant-Li-Bhoj neurodevelopmental syndrome 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0051012",
                    "label": "Bryant-Li-Bhoj neurodevelopmental syndrome 2",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0060933",
            "label": "developmental delay, dysmorphic facies, and brain anomalies",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061031",
            "label": "autosomal dominant intellectual developmental disorder 57",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061032",
            "label": "autosomal dominant intellectual developmental disorder 58",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061033",
            "label": "autosomal dominant intellectual developmental disorder 59",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061034",
            "label": "autosomal dominant intellectual developmental disorder 61",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061035",
            "label": "autosomal dominant intellectual developmental disorder 62",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061036",
            "label": "autosomal dominant intellectual developmental disorder 63 with macrocephaly",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061037",
            "label": "autosomal dominant intellectual developmental disorder 64",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061038",
            "label": "autosomal dominant intellectual developmental disorder 65",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061039",
            "label": "autosomal dominant intellectual developmental disorder 66",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061040",
            "label": "autosomal dominant intellectual developmental disorder 67",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061041",
            "label": "autosomal dominant intellectual developmental disorder 68",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061042",
            "label": "autosomal dominant intellectual developmental disorder 69",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061043",
            "label": "autosomal dominant intellectual developmental disorder 70",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061044",
            "label": "autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061045",
            "label": "autosomal dominant intellectual developmental disorder 72",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061046",
            "label": "autosomal dominant intellectual developmental disorder 73",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061047",
            "label": "autosomal dominant intellectual developmental disorder 74",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061048",
            "label": "autosomal dominant intellectual developmental disorder 75",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061049",
            "label": "autosomal dominant intellectual developmental disorder type FRA12A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061050",
            "label": "autosomal dominant intellectual developmental disorder 60 with seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061129",
            "label": "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061147",
            "label": "neurodevelopmental disorder with or without autism or seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061253",
            "label": "neurodevelopmental disorder with speech delay, movement abnormalities, and seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061254",
            "label": "intellectual developmental disorder with seizures and dysmorphic facies",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070031",
            "label": "autosomal dominant intellectual developmental disorder 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070032",
            "label": "autosomal dominant intellectual developmental disorder 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070033",
            "label": "autosomal dominant intellectual developmental disorder 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070035",
            "label": "autosomal dominant intellectual developmental disorder 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070036",
            "label": "autosomal dominant intellectual developmental disorder 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070037",
            "label": "autosomal dominant intellectual developmental disorder 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070038",
            "label": "autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070039",
            "label": "NESCAV syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070040",
            "label": "autosomal dominant intellectual developmental disorder 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070041",
            "label": "autosomal dominant intellectual developmental disorder 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070043",
            "label": "autosomal dominant intellectual developmental disorder 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070047",
            "label": "Schuurs-Hoeijmakers Syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070048",
            "label": "GAND syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070049",
            "label": "autosomal dominant intellectual developmental disorder 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070050",
            "label": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070051",
            "label": "autosomal dominant intellectual developmental disorder 21",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070052",
            "label": "autosomal dominant intellectual developmental disorder 22",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070053",
            "label": "autosomal dominant intellectual developmental disorder 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070054",
            "label": "Vulto-van Silfout-de Vries syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070055",
            "label": "Xia-Gibbs Syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070056",
            "label": "autosomal dominant intellectual developmental disorder 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070058",
            "label": "Helsmoortel-Van Der Aa Syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070059",
            "label": "autosomal dominant intellectual developmental disorder 29",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070060",
            "label": "autosomal dominant intellectual developmental disorder 30",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070061",
            "label": "autosomal dominant intellectual developmental disorder 31",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070062",
            "label": "Arboleda-Tham syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070063",
            "label": "autosomal dominant intellectual developmental disorder 33",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070064",
            "label": "autosomal dominant intellectual developmental disorder 34",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070065",
            "label": "autosomal dominant intellectual developmental disorder 35",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070066",
            "label": "autosomal dominant intellectual developmental disorder 36",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070067",
            "label": "White-Sutton syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070068",
            "label": "autosomal dominant intellectual developmental disorder 38",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070069",
            "label": "autosomal dominant intellectual developmental disorder 39",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070070",
            "label": "autosomal dominant intellectual developmental disorder 40",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070071",
            "label": "autosomal dominant intellectual developmental disorder 41",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070072",
            "label": "autosomal dominant intellectual developmental disorder 42",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070073",
            "label": "autosomal dominant intellectual developmental disorder 43",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070074",
            "label": "autosomal dominant intellectual developmental disorder 44",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070416",
            "label": "Luo-Schoch-Yamamoto syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070417",
            "label": "neurodevelopmental disorder with speech impairment and dysmorphic facies",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070420",
            "label": "developmental delay, hypotonia, and impaired language",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070469",
            "label": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070513",
            "label": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070514",
            "label": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070529",
            "label": "Sifrim-Hitz-Weiss syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070536",
            "label": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070668",
            "label": "Snijders Blok-Campeau syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070694",
            "label": "neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070709",
            "label": "Popov-Chang syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070710",
            "label": "neurodevelopmental disorder with speech delay and behavioral abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070711",
            "label": "Harel-Tora neurodevelopmental syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070713",
            "label": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070715",
            "label": "Ramond-Elliott neurodevelopmental syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070717",
            "label": "developmental delay with sleep apnea",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070747",
            "label": "immunodeficiency, developmental delay, and hypohomocysteinemia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070753",
            "label": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070756",
            "label": "neurodevelopmental disorder with variable motor and speech impairment",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070757",
            "label": "Pilarowski-Bjornsson syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080226",
            "label": "autosomal dominant intellectual developmental disorder 56",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080227",
            "label": "autosomal dominant intellectual developmental disorder 55",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080228",
            "label": "autosomal dominant intellectual developmental disorder 53",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080230",
            "label": "autosomal dominant intellectual developmental disorder 54",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080231",
            "label": "autosomal dominant intellectual developmental disorder 52",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080232",
            "label": "autosomal dominant intellectual developmental disorder 51",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080233",
            "label": "autosomal dominant intellectual developmental disorder 50",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080234",
            "label": "Clark-Baraitser syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080235",
            "label": "autosomal dominant intellectual developmental disorder 48",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080236",
            "label": "autosomal dominant intellectual developmental disorder 45",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080237",
            "label": "autosomal dominant intellectual developmental disorder 46",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080238",
            "label": "autosomal dominant intellectual developmental disorder 47",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081262",
            "label": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081275",
            "label": "neurodevelopmental disorder with eye movement abnormalities and ataxia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081362",
            "label": "Pierpont syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081430",
            "label": "intellectual developmental disorder with autistic features and language delay, with or without seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111743",
            "label": "cerebellar ataxia type 47",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:1925",
            "label": "Coffin-Siris syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070042",
                    "label": "Coffin-Siris syndrome 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070044",
                    "label": "Coffin-Siris syndrome 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070045",
                    "label": "Coffin-Siris syndrome 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070046",
                    "label": "Coffin-Siris syndrome 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070057",
                    "label": "Coffin-Siris syndrome 9",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080297",
                    "label": "Coffin-Siris syndrome 6",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112367",
                    "label": "Coffin-Siris syndrome 8",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112368",
                    "label": "Coffin-Siris syndrome 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112369",
                    "label": "Coffin-Siris syndrome 7",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112370",
                    "label": "Coffin-Siris syndrome 12",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112371",
                    "label": "Coffin-Siris syndrome 10",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0112372",
                    "label": "Coffin-Siris syndrome 11",
                    "link_status": true,
                    "children": []
                }
            ]
        }
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    ],
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        {
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            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060307",
            "categories": []
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                    "type": "synonym"
                },
                {
                    "name": "FBRSL2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0442",
                    "type": "synonym"
                },
                {
                    "name": "MRD26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXX7-1",
            "evidence": [
                {
                    "id": "0060307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060307"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99592-1",
            "uniprot_ac": "Q99592",
            "uniprot_id": "ZBT18_HUMAN",
            "refseq_ac": "NP_001265125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 18",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa repressor protein",
                    "type": "synonym"
                },
                {
                    "name": "TAZ-1",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "Translin-associated zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein C2H2-171",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "translin-associated zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein C2H2-171",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZBTB18",
                    "type": "recommended"
                },
                {
                    "name": "C1DELq42q44",
                    "type": "synonym"
                },
                {
                    "name": "C1DELq43q44",
                    "type": "synonym"
                },
                {
                    "name": "C2H2-171",
                    "type": "synonym"
                },
                {
                    "name": "DEL1Q42Q44",
                    "type": "synonym"
                },
                {
                    "name": "DEL1Q43Q44",
                    "type": "synonym"
                },
                {
                    "name": "MRD22",
                    "type": "synonym"
                },
                {
                    "name": "RP58",
                    "type": "synonym"
                },
                {
                    "name": "TAZ-1",
                    "type": "synonym"
                },
                {
                    "name": "TAZ1",
                    "type": "synonym"
                },
                {
                    "name": "ZBTB18",
                    "type": "synonym"
                },
                {
                    "name": "ZNF238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99592-1",
            "evidence": [
                {
                    "id": "0060307",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060307"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060307"
}