{
    "disease_id": "DOID:0070062",
    "recommended_name": {
        "id": "DOID:0070062",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070062",
        "name": "Arboleda-Tham syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "MRD32",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "autosomal dominant mental retardation 32",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "autosomal dominant non-syndromic intellectual disability 32",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "ARTHS",
            "description": ""
        },
        {
            "id": "DOID:0070062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "name": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
            "description": "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described."
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "Arboleda-Tham syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "KAT6A Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "MRD32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "autosomal dominant intellectual disability 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "intellectual disability, autosomal dominant type 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "mental retardation, autosomal dominant type 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "intellectual disability, autosomal dominant 32",
            "description": ""
        },
        {
            "id": "MONDO:0014558",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "name": "mental retardation, autosomal dominant 32",
            "description": ""
        },
        {
            "id": "MIM:616268",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616268",
            "name": "Arboleda-Tham syndrome",
            "description": "Arboleda-Tham syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070062"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070062",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070062",
            "categories": []
        },
        {
            "id": "MONDO:0014558",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014558",
            "categories": []
        },
        {
            "id": "MIM:616268",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616268",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BZ21-1",
            "uniprot_ac": "Q8BZ21",
            "uniprot_id": "KAT6A_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone acetyltransferase KAT6A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3",
                    "type": "synonym"
                },
                {
                    "name": "MOZ",
                    "type": "synonym"
                },
                {
                    "name": "MYST-3",
                    "type": "synonym"
                },
                {
                    "name": "Monocytic leukemia zinc finger homolog",
                    "type": "synonym"
                },
                {
                    "name": "Monocytic leukemia zinc finger protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kat6a",
                    "type": "recommended"
                },
                {
                    "name": "Moz",
                    "type": "synonym"
                },
                {
                    "name": "Myst3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZ21-1",
            "evidence": [
                {
                    "id": "0070062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92794-1",
            "uniprot_ac": "Q92794",
            "uniprot_id": "KAT6A_HUMAN",
            "refseq_ac": "NP_006757",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone acetyltransferase KAT6A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "K(lysine) acetyltransferase 6A",
                    "type": "synonym"
                },
                {
                    "name": "MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3",
                    "type": "synonym"
                },
                {
                    "name": "MOZ",
                    "type": "synonym"
                },
                {
                    "name": "MYST histone acetyltransferase (monocytic leukemia) 3",
                    "type": "synonym"
                },
                {
                    "name": "MYST-3",
                    "type": "synonym"
                },
                {
                    "name": "Monocytic leukemia zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Runt-related transcription factor-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 220",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6A",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase MYST3",
                    "type": "synonym"
                },
                {
                    "name": "monocytic leukemia zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "runt-related transcription factor binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 220",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KAT6A",
                    "type": "recommended"
                },
                {
                    "name": "ARTHS",
                    "type": "synonym"
                },
                {
                    "name": "KAT6A",
                    "type": "synonym"
                },
                {
                    "name": "MOZ",
                    "type": "synonym"
                },
                {
                    "name": "MRD32",
                    "type": "synonym"
                },
                {
                    "name": "MYST-3",
                    "type": "synonym"
                },
                {
                    "name": "MYST3",
                    "type": "synonym"
                },
                {
                    "name": "RUNXBP2",
                    "type": "synonym"
                },
                {
                    "name": "ZC2HC6A",
                    "type": "synonym"
                },
                {
                    "name": "ZNF220",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92794-1",
            "evidence": [
                {
                    "id": "616268",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616268"
                },
                {
                    "id": "0070062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TKR9-1",
            "uniprot_ac": "Q5TKR9",
            "uniprot_id": "KAT6A_RAT",
            "refseq_ac": "NP_001094040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone acetyltransferase KAT6A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "K(lysine) acetyltransferase 6A",
                    "type": "synonym"
                },
                {
                    "name": "MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3",
                    "type": "synonym"
                },
                {
                    "name": "MOZ",
                    "type": "synonym"
                },
                {
                    "name": "MYST histone acetyltransferase (monocytic leukemia) 3",
                    "type": "synonym"
                },
                {
                    "name": "MYST protein 3",
                    "type": "synonym"
                },
                {
                    "name": "MYST-3",
                    "type": "synonym"
                },
                {
                    "name": "Monocytic leukemia zinc finger homolog",
                    "type": "synonym"
                },
                {
                    "name": "Monocytic leukemia zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6A",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase MYST3",
                    "type": "synonym"
                },
                {
                    "name": "monocytic leukemia zinc finger homolog",
                    "type": "synonym"
                },
                {
                    "name": "monocytic leukemia zinc finger protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kat6a",
                    "type": "recommended"
                },
                {
                    "name": "Kat6a",
                    "type": "synonym"
                },
                {
                    "name": "Moz",
                    "type": "synonym"
                },
                {
                    "name": "Myst3",
                    "type": "synonym"
                },
                {
                    "name": "Runxbp2",
                    "type": "synonym"
                },
                {
                    "name": "Znf220",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TKR9-1",
            "evidence": [
                {
                    "id": "0070062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1A9-1",
            "uniprot_ac": "Q9W1A9",
            "uniprot_id": "Q9W1A9_DROME",
            "refseq_ac": "NP_001286823",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "histone acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "CG11290-PB",
                    "type": "synonym"
                },
                {
                    "name": "enok-PB",
                    "type": "synonym"
                },
                {
                    "name": "enoki mushroom, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "enoki mushroom",
                    "type": "synonym"
                },
                {
                    "name": "rotkehlchen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "enok",
                    "type": "recommended"
                },
                {
                    "name": "CG11290",
                    "type": "synonym"
                },
                {
                    "name": "Cg11290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11290",
                    "type": "synonym"
                },
                {
                    "name": "Enok",
                    "type": "synonym"
                },
                {
                    "name": "KAT6",
                    "type": "synonym"
                },
                {
                    "name": "S1",
                    "type": "synonym"
                },
                {
                    "name": "anon-60Ba",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0200864.1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0200864.2",
                    "type": "synonym"
                },
                {
                    "name": "dmHAG406",
                    "type": "synonym"
                },
                {
                    "name": "enok",
                    "type": "synonym"
                },
                {
                    "name": "rot",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1A9-1",
            "evidence": [
                {
                    "id": "0070062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070062"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070062"
}