{
    "disease_id": "DOID:0060290",
    "recommended_name": {
        "id": "DOID:0060290",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060290",
        "name": "Ohdo syndrome, SBBYS variant",
        "description": "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060290",
            "name": "Say-Barber-Biesecker-Young-Simpson syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060290",
            "name": "blepharophimosis-intellectual disability syndrome, SBBYS type",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "blepharophimosis - intellectual disability syndrome, SBBYS type",
            "description": "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested."
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "Ohdo syndrome, SBBYS variant",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "SBBYSS",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "SBBYSS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "Say-Barber-Biesecker-Young-Simpson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "blepharophimosis - intellectual disability syndrome, SBBYS type",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MIM:603736",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603736",
            "name": "Ohdo syndrome, SBBYS variant",
            "description": "Ohdo syndrome, SBBYS variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060290"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060290",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060290",
            "categories": []
        },
        {
            "id": "MONDO:0011365",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "categories": []
        },
        {
            "id": "MIM:603736",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603736",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3BER5-1",
            "uniprot_ac": "A0A8M3BER5",
            "uniprot_id": "A0A8M3BER5_DANRE",
            "refseq_ac": "XP_009305666",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "histone acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6B isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kat6b",
                    "type": "recommended"
                },
                {
                    "name": "kat6b",
                    "type": "synonym"
                }
            ],
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                    "id": "0060290",
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                }
            ]
        },
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            "uniprot_ac": "Q8BRB7",
            "uniprot_id": "KAT6B_MOUSE",
            "refseq_ac": "NP_059507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone acetyltransferase KAT6B",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
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                    "name": "MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4",
                    "type": "synonym"
                },
                {
                    "name": "MYST histone acetyltransferase monocytic leukemia 4",
                    "type": "synonym"
                },
                {
                    "name": "MYST-4",
                    "type": "synonym"
                },
                {
                    "name": "Protein querkopf",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6B",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase MYST4",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase querkopf",
                    "type": "synonym"
                },
                {
                    "name": "monocytic leukemia",
                    "type": "synonym"
                },
                {
                    "name": "protein querkopf",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kat6b",
                    "type": "recommended"
                },
                {
                    "name": "B130044K16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kat6b",
                    "type": "synonym"
                },
                {
                    "name": "MYST-4",
                    "type": "synonym"
                },
                {
                    "name": "Morf",
                    "type": "synonym"
                },
                {
                    "name": "Myst4",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0383",
                    "type": "synonym"
                },
                {
                    "name": "qkf",
                    "type": "synonym"
                },
                {
                    "name": "querkopf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BRB7-1",
            "evidence": [
                {
                    "id": "0060290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WYB5-1",
            "uniprot_ac": "Q8WYB5",
            "uniprot_id": "KAT6B_HUMAN",
            "refseq_ac": "NP_001243397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone acetyltransferase KAT6B",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "Histone acetyltransferase MOZ2",
                    "type": "synonym"
                },
                {
                    "name": "K(lysine) acetyltransferase 6B",
                    "type": "synonym"
                },
                {
                    "name": "MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4",
                    "type": "synonym"
                },
                {
                    "name": "MOZ-related factor",
                    "type": "synonym"
                },
                {
                    "name": "MYST histone acetyltransferase (monocytic leukemia) 4",
                    "type": "synonym"
                },
                {
                    "name": "MYST-4",
                    "type": "synonym"
                },
                {
                    "name": "Monocytic leukemia zinc finger protein-related factor",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6B",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase MORF",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase MOZ2",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase MYST4",
                    "type": "synonym"
                },
                {
                    "name": "monocytic leukemia zinc finger protein-related factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KAT6B",
                    "type": "recommended"
                },
                {
                    "name": "GTPTS",
                    "type": "synonym"
                },
                {
                    "name": "KAT6B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0383",
                    "type": "synonym"
                },
                {
                    "name": "MORF",
                    "type": "synonym"
                },
                {
                    "name": "MOZ2",
                    "type": "synonym"
                },
                {
                    "name": "MYST4",
                    "type": "synonym"
                },
                {
                    "name": "ZC2HC6B",
                    "type": "synonym"
                },
                {
                    "name": "qkf",
                    "type": "synonym"
                },
                {
                    "name": "querkopf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WYB5-1",
            "evidence": [
                {
                    "id": "603736",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603736"
                },
                {
                    "id": "0060290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34218-1",
            "uniprot_ac": "P34218",
            "uniprot_id": "SAS3_YEAST",
            "refseq_ac": "NP_009501",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone acetyltransferase SAS3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "Something about silencing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAS3",
                    "type": "recommended"
                },
                {
                    "name": "KAT6",
                    "type": "synonym"
                },
                {
                    "name": "SAS3",
                    "type": "synonym"
                },
                {
                    "name": "YBL0507",
                    "type": "synonym"
                },
                {
                    "name": "YBL0515",
                    "type": "synonym"
                }
            ],
            "record_id": "P34218-1",
            "evidence": [
                {
                    "id": "0060290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060290"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GLZ3-1",
            "uniprot_ac": "A0A8I6GLZ3",
            "uniprot_id": "A0A8I6GLZ3_RAT",
            "refseq_ac": "NP_001420016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "histone acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "K(lysine) acetyltransferase 6B",
                    "type": "synonym"
                },
                {
                    "name": "histone acetyltransferase KAT6B",
                    "type": "synonym"
                },
                {
                    "name": "lysine acetyltransferase 6B isoform 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kat6b",
                    "type": "recommended"
                },
                {
                    "name": "Kat6b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566399",
                    "type": "synonym"
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            ],
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                    "id": "0060290",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060290"
                }
            ]
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            "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]"
                }
            ],
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                {
                    "name": "histone acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
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                    "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"
                }
            ],
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                {
                    "id": "0060290",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060290"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060290"
}