{
    "disease_id": "DOID:0111715",
    "recommended_name": {
        "id": "DOID:0111715",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111715",
        "name": "Schaaf-Yang syndrome",
        "description": "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "MAGEL2-related PWLS",
            "description": ""
        },
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "MAGEL2-related Prader-Willi-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "PWLS",
            "description": ""
        },
        {
            "id": "DOID:0111715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "name": "SHFYNG",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "SHFYNG",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Chitayat-Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "PWS due to a point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Prader-Willi syndrome due to point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "SHFYNG",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Schaaf-Yang syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Chitayat-Hall syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "PWS due to a point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "Prader-Willi syndrome due to point mutation",
            "description": ""
        },
        {
            "id": "MONDO:0014243",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "name": "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies",
            "description": ""
        },
        {
            "id": "MIM:615547",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615547",
            "name": "Schaaf-Yang syndrome",
            "description": "Schaaf-Yang syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111715"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111715",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111715",
            "categories": []
        },
        {
            "id": "MONDO:0014243",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014243",
            "categories": []
        },
        {
            "id": "MIM:615547",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615547",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90YM8-1",
            "uniprot_ac": "Q90YM8",
            "uniprot_id": "CYFP1_DANRE",
            "refseq_ac": "NP_997924",
            "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"
                }
            ],
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                {
                    "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"
                }
            ],
            "record_id": "Q90YM8-1",
            "evidence": [
                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZ04-1",
            "uniprot_ac": "Q9QZ04",
            "uniprot_id": "MAGL2_MOUSE",
            "refseq_ac": "NP_038807",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAGE-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "MAGE-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein nS7",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen, family L, 2",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen-like gene 2",
                    "type": "synonym"
                },
                {
                    "name": "necdin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "protein nS7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magel2",
                    "type": "recommended"
                },
                {
                    "name": "Mage-l2",
                    "type": "synonym"
                },
                {
                    "name": "Magel2",
                    "type": "synonym"
                },
                {
                    "name": "NDNL1",
                    "type": "synonym"
                },
                {
                    "name": "nM15",
                    "type": "synonym"
                },
                {
                    "name": "ns7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ04-1",
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                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TMB8-1",
            "uniprot_ac": "Q7TMB8",
            "uniprot_id": "CYFP1_MOUSE",
            "refseq_ac": "NP_001158133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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 a",
                    "type": "synonym"
                },
                {
                    "name": "specifically Rac1-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyfip1",
                    "type": "recommended"
                },
                {
                    "name": "Cyfip1",
                    "type": "synonym"
                },
                {
                    "name": "E030028J09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0068",
                    "type": "synonym"
                },
                {
                    "name": "P140SRA-1",
                    "type": "synonym"
                },
                {
                    "name": "P140sra1",
                    "type": "synonym"
                },
                {
                    "name": "Shyc",
                    "type": "synonym"
                },
                {
                    "name": "Sra-1",
                    "type": "synonym"
                },
                {
                    "name": "Sra1",
                    "type": "synonym"
                },
                {
                    "name": "l(7)1Rl",
                    "type": "synonym"
                },
                {
                    "name": "l71Rl",
                    "type": "synonym"
                },
                {
                    "name": "l7Rl1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0068",
                    "type": "synonym"
                },
                {
                    "name": "pl-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMB8-1",
            "evidence": [
                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJ55-1",
            "uniprot_ac": "Q9UJ55",
            "uniprot_id": "MAGL2_HUMAN",
            "refseq_ac": "NP_061939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAGE-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "MAGE-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Necdin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein nM15",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen family L2",
                    "type": "synonym"
                },
                {
                    "name": "necdin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein nM15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAGEL2",
                    "type": "recommended"
                },
                {
                    "name": "MAGEL2",
                    "type": "synonym"
                },
                {
                    "name": "NDNL1",
                    "type": "synonym"
                },
                {
                    "name": "PWLS",
                    "type": "synonym"
                },
                {
                    "name": "SHFYNG",
                    "type": "synonym"
                },
                {
                    "name": "nM15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJ55-1",
            "evidence": [
                {
                    "id": "615547",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615547"
                },
                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTL5-1",
            "uniprot_ac": "D3ZTL5",
            "uniprot_id": "D3ZTL5_RAT",
            "refseq_ac": "NP_001388167",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAGE family member L2",
                    "type": "synonym"
                },
                {
                    "name": "MAGE-like 2",
                    "type": "synonym"
                },
                {
                    "name": "MAGE-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen family L2",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen, family L, 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Magel2",
                    "type": "recommended"
                },
                {
                    "name": "Magel2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTL5-1",
            "evidence": [
                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JT63-1",
            "uniprot_ac": "A0A0G2JT63",
            "uniprot_id": "A0A0G2JT63_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyfip1",
                    "type": "recommended"
                },
                {
                    "name": "Cyfip2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JT63-1",
            "evidence": [
                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9I7L4-1",
            "uniprot_ac": "Q9I7L4",
            "uniprot_id": "Q9I7L4_DROME",
            "refseq_ac": "NP_649702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10059-PA",
                    "type": "synonym"
                },
                {
                    "name": "MAGE-PA",
                    "type": "synonym"
                },
                {
                    "name": "MAGE",
                    "type": "synonym"
                },
                {
                    "name": "necdin",
                    "type": "synonym"
                },
                {
                    "name": "sleepless in seattle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAGE",
                    "type": "recommended"
                },
                {
                    "name": "CG10059",
                    "type": "synonym"
                },
                {
                    "name": "DMAGE",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10059",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10059",
                    "type": "synonym"
                },
                {
                    "name": "MAGE",
                    "type": "synonym"
                },
                {
                    "name": "Mage",
                    "type": "synonym"
                },
                {
                    "name": "Nse3",
                    "type": "synonym"
                },
                {
                    "name": "sst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I7L4-1",
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                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF87-1",
            "uniprot_ac": "Q9VF87",
            "uniprot_id": "CYFIP_DROME",
            "refseq_ac": "NP_650447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4931-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cyfip-PA",
                    "type": "synonym"
                },
                {
                    "name": "Specifically Rac1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic FMR1 interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "specifically Rac1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "specifically, Rac-1 associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "Cyfip",
                    "type": "recommended"
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                {
                    "name": "CG4931",
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                {
                    "name": "CYFIP1/2",
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                {
                    "name": "CYFIP1",
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                {
                    "name": "CYFIP",
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                },
                {
                    "name": "Cyfip",
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                {
                    "name": "DSra-1",
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                {
                    "name": "Dmel\\CG4931",
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                {
                    "name": "PIR121/Sra-1",
                    "type": "synonym"
                },
                {
                    "name": "PIR121",
                    "type": "synonym"
                },
                {
                    "name": "Sra-1/CYFIP",
                    "type": "synonym"
                },
                {
                    "name": "Sra-1",
                    "type": "synonym"
                },
                {
                    "name": "Sra1/PIR121",
                    "type": "synonym"
                },
                {
                    "name": "Sra1",
                    "type": "synonym"
                },
                {
                    "name": "Sra",
                    "type": "synonym"
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                {
                    "name": "cyfip",
                    "type": "synonym"
                },
                {
                    "name": "dCYFIP1",
                    "type": "synonym"
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                {
                    "name": "dCYFIP",
                    "type": "synonym"
                },
                {
                    "name": "dCyfip",
                    "type": "synonym"
                },
                {
                    "name": "dSra",
                    "type": "synonym"
                },
                {
                    "name": "sra-1",
                    "type": "synonym"
                },
                {
                    "name": "sra1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF87-1",
            "evidence": [
                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L576-1",
            "uniprot_ac": "Q7L576",
            "uniprot_id": "CYFP1_HUMAN",
            "refseq_ac": "NP_001028200",
            "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 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"
                },
                {
                    "name": "p140sra-1",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "record_id": "Q7L576-1",
            "evidence": [
                {
                    "id": "0111715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111715"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111715"
}