{
    "disease_id": "DOID:0060393",
    "recommended_name": {
        "id": "DOID:0060393",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060393",
        "name": "chromosome 15q11.2 deletion syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."
    },
    "synonyms": [
        {
            "id": "DOID:0060393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060393",
            "name": "15q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 deletion syndrome",
            "description": "15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)."
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "15q11.2 BP1-BP2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "15q11.2 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "Del(15)(q11.2)",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "monosomy 15q11.2",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "15q11.2 microdeletion",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0014294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "name": "chromosome 15q11.2 microdeletion",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060393"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060393",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060393",
            "categories": []
        },
        {
            "id": "MONDO:0014294",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014294",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90YM8-1",
            "uniprot_ac": "Q90YM8",
            "uniprot_id": "CYFP1_DANRE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "cytoplasmic FMR1-interacting protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyfip1",
                    "type": "recommended"
                },
                {
                    "name": "CYFIP",
                    "type": "synonym"
                },
                {
                    "name": "CY",
                    "type": "synonym"
                },
                {
                    "name": "cyfip1",
                    "type": "synonym"
                },
                {
                    "name": "fb15a06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb15a06",
                    "type": "synonym"
                }
            ],
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                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        },
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            "uniprot_ac": "Q7TMB8",
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            "refseq_ac": "NP_001158133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Cytoplasmic FMR1-interacting protein 1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
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                {
                    "name": "Sra-1",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "specifically Rac1-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyfip1",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "E030028J09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0068",
                    "type": "synonym"
                },
                {
                    "name": "P140SRA-1",
                    "type": "synonym"
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                    "name": "P140sra1",
                    "type": "synonym"
                },
                {
                    "name": "Shyc",
                    "type": "synonym"
                },
                {
                    "name": "Sra-1",
                    "type": "synonym"
                },
                {
                    "name": "Sra1",
                    "type": "synonym"
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                {
                    "name": "l(7)1Rl",
                    "type": "synonym"
                },
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                    "name": "l71Rl",
                    "type": "synonym"
                },
                {
                    "name": "l7Rl1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0068",
                    "type": "synonym"
                },
                {
                    "name": "pl-1",
                    "type": "synonym"
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            ],
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                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08759-1",
            "uniprot_ac": "O08759",
            "uniprot_id": "UBE3A_MOUSE",
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            "glycoprotein": "yes",
            "species": [
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                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Ubiquitin-protein ligase E3A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E6-AP ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type ubiquitin transferase E3A",
                    "type": "synonym"
                },
                {
                    "name": "Oncogenic protein-associated protein E6-AP",
                    "type": "synonym"
                },
                {
                    "name": "oncogenic protein-associated protein E6-AP",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin conjugating enzyme E3A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase E3A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ube3a",
                    "type": "recommended"
                },
                {
                    "name": "4732496B02",
                    "type": "synonym"
                },
                {
                    "name": "5830462N02Rik",
                    "type": "synonym"
                },
                {
                    "name": "A130086L21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hpve6a",
                    "type": "synonym"
                },
                {
                    "name": "Ube3a",
                    "type": "synonym"
                }
            ],
            "record_id": "O08759-1",
            "evidence": [
                {
                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SQX6-1",
            "uniprot_ac": "Q5SQX6",
            "uniprot_id": "CYFP2_MOUSE",
            "refseq_ac": "NP_001239388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
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                    "type": "recommended"
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                {
                    "name": "cytoplasmic FMR1-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible protein 121",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyfip2",
                    "type": "recommended"
                },
                {
                    "name": "1500004I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "6430511D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cyfip2",
                    "type": "synonym"
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                    "name": "Kiaa1168",
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                },
                {
                    "name": "Pir121",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                }
            ],
            "record_id": "Q5SQX6-1",
            "evidence": [
                {
                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L068-1",
            "uniprot_ac": "A0ABK0L068",
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            "refseq_ac": "NP_001178766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-protein ligase E3A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase E3A",
                    "type": "synonym"
                }
            ],
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                    "name": "Ube3a",
                    "type": "recommended"
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                    "id": "0060393",
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                }
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        {
            "uniprot_canonical_ac": "A0A0G2JT63-1",
            "uniprot_ac": "A0A0G2JT63",
            "uniprot_id": "A0A0G2JT63_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "name": "Rattus norvegicus",
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                    "name": "Cyfip2",
                    "type": "recommended"
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "HECT-type E3 ubiquitin transferase",
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                    "name": "angelman syndrome",
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                {
                    "name": "drosophila angelman syndrome",
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                {
                    "name": "ubiquitin protein ligase 3a",
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                    "name": "Ube3a",
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                {
                    "name": "NM_140195.2",
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                },
                {
                    "name": "UBE3A",
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                    "name": "das",
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                }
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Specifically Rac1-associated protein 1",
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                    "name": "specifically Rac1-associated protein 1",
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                {
                    "name": "specifically, Rac-1 associated protein 1",
                    "type": "synonym"
                }
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                {
                    "name": "CYFIP1",
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                    "name": "Cyfip",
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                {
                    "name": "DSra-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4931",
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                {
                    "name": "PIR121/Sra-1",
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                {
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                    "name": "Sra",
                    "type": "synonym"
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                {
                    "name": "cyfip",
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                {
                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        },
        {
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            "refseq_ac": "NP_001028200",
            "glycoprotein": "yes",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Specifically Rac1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Sra-1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic FMR1-interacting protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic FMRP interacting protein 1",
                    "type": "synonym"
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                {
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                {
                    "name": "selective hybridizing clone",
                    "type": "synonym"
                },
                {
                    "name": "specifically Rac1-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYFIP1",
                    "type": "recommended"
                },
                {
                    "name": "CYFIP1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0068",
                    "type": "synonym"
                },
                {
                    "name": "P140SRA-1",
                    "type": "synonym"
                },
                {
                    "name": "SHYC",
                    "type": "synonym"
                },
                {
                    "name": "SRA-1",
                    "type": "synonym"
                },
                {
                    "name": "SRA1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96F07-1",
            "uniprot_ac": "Q96F07",
            "uniprot_id": "CYFP2_HUMAN",
            "refseq_ac": "NP_001032410",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "cytoplasmic FMR1-interacting protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible protein 121",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYFIP2",
                    "type": "recommended"
                },
                {
                    "name": "CYFIP2",
                    "type": "synonym"
                },
                {
                    "name": "DEE65",
                    "type": "synonym"
                },
                {
                    "name": "EIEE65",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1168",
                    "type": "synonym"
                },
                {
                    "name": "PIR121",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96F07-1",
            "evidence": [
                {
                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05086-1",
            "uniprot_ac": "Q05086",
            "uniprot_id": "UBE3A_HUMAN",
            "refseq_ac": "NP_000453",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-protein ligase E3A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "CTCL tumor antigen se37-2",
                    "type": "synonym"
                },
                {
                    "name": "E6AP ubiquitin-protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type ubiquitin transferase E3A",
                    "type": "synonym"
                },
                {
                    "name": "Human papillomavirus E6-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Oncogenic protein-associated protein E6-AP",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-54",
                    "type": "synonym"
                },
                {
                    "name": "human papilloma virus E6-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "human papillomavirus E6-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "oncogenic protein-associated protein E6-AP",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-54",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase E3A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBE3A",
                    "type": "recommended"
                },
                {
                    "name": "ANCR",
                    "type": "synonym"
                },
                {
                    "name": "AS",
                    "type": "synonym"
                },
                {
                    "name": "E6-AP",
                    "type": "synonym"
                },
                {
                    "name": "E6AP",
                    "type": "synonym"
                },
                {
                    "name": "EPVE6AP",
                    "type": "synonym"
                },
                {
                    "name": "HPVE6A",
                    "type": "synonym"
                },
                {
                    "name": "PIX1",
                    "type": "synonym"
                },
                {
                    "name": "UBE3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05086-1",
            "evidence": [
                {
                    "id": "0060393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060393"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060393"
}