{
    "disease_id": "DOID:0081301",
    "recommended_name": {
        "id": "DOID:0081301",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081301",
        "name": "intellectual developmental disorder with ocular anomalies and distinctive facial features",
        "description": "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081301",
            "name": "MTSS2-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "DOID:0081301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081301",
            "name": "IDDOF",
            "description": ""
        },
        {
            "id": "MONDO:0859303",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859303",
            "name": "intellectual developmental disorder with ocular anomalies and distinctive facial features",
            "description": ""
        },
        {
            "id": "MIM:620086",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620086",
            "name": "Intellectual developmental disorder with ocular anomalies and distinctive facial features",
            "description": "Intellectual developmental disorder with ocular anomalies and distinctive facial features"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081301"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081301",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081301",
            "categories": []
        },
        {
            "id": "MONDO:0859303",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859303",
            "categories": []
        },
        {
            "id": "MIM:620086",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620086",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AJH9-1",
            "uniprot_ac": "A0A8M3AJH9",
            "uniprot_id": "A0A8M3AJH9_DANRE",
            "refseq_ac": "XP_009291775",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "MTSS I-BAR domain containing 2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtss1la",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd5126",
                    "type": "synonym"
                },
                {
                    "name": "mtss1la",
                    "type": "synonym"
                },
                {
                    "name": "mtss1l",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-15i6.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AJH9-1",
            "evidence": [
                {
                    "id": "0081301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081301"
                }
            ]
        },
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            "uniprot_canonical_ac": "A0A8M6Z084-1",
            "uniprot_ac": "A0A8M6Z084",
            "uniprot_id": "A0A8M6Z084_DANRE",
            "refseq_ac": "XP_017212571",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MTSS 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein MTSS 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtss1lb",
                    "type": "recommended"
                },
                {
                    "name": "mtss1lb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z084-1",
            "evidence": [
                {
                    "id": "0081301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TQT7-1",
            "uniprot_ac": "A0AB32TQT7",
            "uniprot_id": "A0AB32TQT7_DANRE",
            "refseq_ac": "XP_068077840",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Protein MTSS 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein MTSS 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtss1",
                    "type": "recommended"
                },
                {
                    "name": "mtss1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-46l15.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TQT7-1",
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                {
                    "id": "0081301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P9S0-1",
            "uniprot_ac": "Q6P9S0",
            "uniprot_id": "MTSS2_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MTSS 2",
                    "type": "recommended"
                },
                {
                    "name": "MTSS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "metastasis suppressor 1-like",
                    "type": "synonym"
                },
                {
                    "name": "protein MTSS 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein MTSS 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtss2",
                    "type": "recommended"
                },
                {
                    "name": "ABBA",
                    "type": "synonym"
                },
                {
                    "name": "Mtss1l",
                    "type": "synonym"
                },
                {
                    "name": "Mtss2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P9S0-1",
            "evidence": [
                {
                    "id": "0081301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1S4-1",
            "uniprot_ac": "Q8R1S4",
            "uniprot_id": "MTSS1_MOUSE",
            "refseq_ac": "NP_659049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MTSS 1",
                    "type": "recommended"
                },
                {
                    "name": "Metastasis suppressor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Missing in metastasis protein",
                    "type": "synonym"
                },
                {
                    "name": "actin monomer-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "metastasis suppressor 1",
                    "type": "synonym"
                },
                {
                    "name": "metastasis suppressor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "missing in metastasis protein",
                    "type": "synonym"
                },
                {
                    "name": "protein MTSS 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein MTSS 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mtss1",
                    "type": "recommended"
                },
                {
                    "name": "2310003N14Rik",
                    "type": "synonym"
                },
                {
                    "name": "D130001D01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mim",
                    "type": "synonym"
                },
                {
                    "name": "Mtss1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0429",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1S4-1",
            "evidence": [
                {
                    "id": "0081301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q765P7-1",
            "uniprot_ac": "Q765P7",
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            "refseq_ac": "NP_612392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Protein MTSS 2",
                    "type": "recommended"
                },
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                    "name": "ABBA-1",
                    "type": "synonym"
                },
                {
                    "name": "Actin-bundling with BAIAP2 homology protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MTSS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "MTSS1L, I-BAR domain containing",
                    "type": "synonym"
                },
                {
                    "name": "actin-bundling with BAIAP2 homology protein 1",
                    "type": "synonym"
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                {
                    "name": "metastasis suppressor 1-like",
                    "type": "synonym"
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                {
                    "name": "protein MTSS 2",
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                }
            ],
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                {
                    "name": "MTSS2",
                    "type": "recommended"
                },
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                    "name": "ABBA-1",
                    "type": "synonym"
                },
                {
                    "name": "ABBA1",
                    "type": "synonym"
                },
                {
                    "name": "ABBA",
                    "type": "synonym"
                },
                {
                    "name": "IDDOF",
                    "type": "synonym"
                },
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                    "name": "MTSS1L",
                    "type": "synonym"
                },
                {
                    "name": "MTSS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q765P7-1",
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                {
                    "id": "620086",
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                    "url": "https://www.omim.org/entry/620086"
                },
                {
                    "id": "0081301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081301"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A3S6-1",
            "uniprot_ac": "D4A3S6",
            "uniprot_id": "D4A3S6_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "MTSS I-BAR domain containing 2",
                    "type": "synonym"
                }
            ],
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                    "name": "Mtss2",
                    "type": "recommended"
                },
                {
                    "name": "Mtss1l",
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            ],
            "record_id": "D4A3S6-1",
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                {
                    "id": "0081301",
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            ]
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            "uniprot_canonical_ac": "A0ABK0LKU5-1",
            "uniprot_ac": "A0ABK0LKU5",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "MTSS I-BAR domain containing 1",
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                }
            ],
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                {
                    "name": "Mtss1",
                    "type": "recommended"
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                    "id": "0081301",
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        {
            "uniprot_canonical_ac": "A0A0B4JCZ8-1",
            "uniprot_ac": "A0A0B4JCZ8",
            "uniprot_id": "A0A0B4JCZ8_DROME",
            "refseq_ac": "NP_001188869",
            "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": "CG33558-PF",
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                },
                {
                    "name": "Missing-in-metastasis, isoform F",
                    "type": "synonym"
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                    "name": "anon-fast-evolving-1E4",
                    "type": "synonym"
                },
                {
                    "name": "mim-PF",
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                {
                    "name": "missing-in-metastasis, isoform F",
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            ],
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                    "name": "mim",
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                    "name": "CG33352",
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                },
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                    "name": "CG33558",
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                },
                {
                    "name": "CG9469",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:10851",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33558",
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                    "name": "Dmel_CG33558",
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                },
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                    "name": "MIM",
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                    "name": "Mim",
                    "type": "synonym"
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                    "name": "anon-EST:fe1E4",
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                    "id": "0081301",
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                }
            ]
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        {
            "uniprot_canonical_ac": "O43312-1",
            "uniprot_ac": "O43312",
            "uniprot_id": "MTSS1_HUMAN",
            "refseq_ac": "NP_001269900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MTSS 1",
                    "type": "recommended"
                },
                {
                    "name": "MTSS1, I-BAR domain containing",
                    "type": "synonym"
                },
                {
                    "name": "Metastasis suppressor YGL-1",
                    "type": "synonym"
                },
                {
                    "name": "Metastasis suppressor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Missing in metastasis protein",
                    "type": "synonym"
                },
                {
                    "name": "metastasis suppressor 1",
                    "type": "synonym"
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                    "name": "metastasis suppressor YGL-1",
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                    "name": "metastasis suppressor protein 1",
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                {
                    "name": "missing in metastasis protein",
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                {
                    "name": "protein MTSS 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein MTSS 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTSS1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0429",
                    "type": "synonym"
                },
                {
                    "name": "MIMA",
                    "type": "synonym"
                },
                {
                    "name": "MIMB",
                    "type": "synonym"
                },
                {
                    "name": "MIM",
                    "type": "synonym"
                },
                {
                    "name": "MTSS1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0081301",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081301"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081301"
}