{
    "disease_id": "DOID:0061116",
    "recommended_name": {
        "id": "DOID:0061116",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061116",
        "name": "Carey-Fineman-Ziter syndrome 2",
        "description": "A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0061116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061116",
            "name": "CFZS2",
            "description": ""
        },
        {
            "id": "MONDO:0100292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100292",
            "name": "Carey-Fineman-Ziter syndrome 2",
            "description": "Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene."
        },
        {
            "id": "MONDO:0100292",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100292",
            "name": "CFZS2",
            "description": ""
        },
        {
            "id": "MIM:619941",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619941",
            "name": "Carey-Fineman-Ziter syndrome 2",
            "description": "Carey-Fineman-Ziter syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061116"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061116",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061116",
            "categories": []
        },
        {
            "id": "MONDO:0100292",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100292",
            "categories": []
        },
        {
            "id": "MIM:619941",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619941",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2Q5T5-1",
            "uniprot_ac": "Q2Q5T5",
            "uniprot_id": "MYMX_MOUSE",
            "refseq_ac": "NP_001170939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein myomixer",
                    "type": "recommended"
                },
                {
                    "name": "ESGP",
                    "type": "synonym"
                },
                {
                    "name": "Embryonic stem cell- and germ cell-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "Microprotein inducer of fusion",
                    "type": "synonym"
                },
                {
                    "name": "Protein minion",
                    "type": "synonym"
                },
                {
                    "name": "Protein myomerger",
                    "type": "synonym"
                },
                {
                    "name": "embryonic stem cell- and germ cell-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "microprotein inducer of fusion",
                    "type": "synonym"
                },
                {
                    "name": "protein minion",
                    "type": "synonym"
                },
                {
                    "name": "protein myomerger",
                    "type": "synonym"
                },
                {
                    "name": "protein myomixer isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein myomixer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mymx",
                    "type": "recommended"
                },
                {
                    "name": "EG653016",
                    "type": "synonym"
                },
                {
                    "name": "Esgp",
                    "type": "synonym"
                },
                {
                    "name": "Gm7325",
                    "type": "synonym"
                },
                {
                    "name": "Mymx",
                    "type": "synonym"
                },
                {
                    "name": "minion",
                    "type": "synonym"
                },
                {
                    "name": "myomerger",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2Q5T5-1",
            "evidence": [
                {
                    "id": "0061116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1B0GTQ4-1",
            "uniprot_ac": "A0A1B0GTQ4",
            "uniprot_id": "MYMX_HUMAN",
            "refseq_ac": "NP_001302423",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein myomixer",
                    "type": "recommended"
                },
                {
                    "name": "Microprotein inducer of fusion",
                    "type": "synonym"
                },
                {
                    "name": "Protein minion",
                    "type": "synonym"
                },
                {
                    "name": "hMINION",
                    "type": "synonym"
                },
                {
                    "name": "microprotein inducer of fusion",
                    "type": "synonym"
                },
                {
                    "name": "myomerger",
                    "type": "synonym"
                },
                {
                    "name": "protein minion",
                    "type": "synonym"
                },
                {
                    "name": "protein myomixer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYMX",
                    "type": "recommended"
                },
                {
                    "name": "CFZS2",
                    "type": "synonym"
                },
                {
                    "name": "MINION",
                    "type": "synonym"
                },
                {
                    "name": "MYMX",
                    "type": "synonym"
                },
                {
                    "name": "hMINION",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1B0GTQ4-1",
            "evidence": [
                {
                    "id": "619941",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619941"
                },
                {
                    "id": "0061116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A557-1",
            "uniprot_ac": "D4A557",
            "uniprot_id": "D4A557_RAT",
            "refseq_ac": "NP_001386394",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myomixer, myoblast fusion factor",
                    "type": "synonym"
                },
                {
                    "name": "protein myomixer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mymx",
                    "type": "recommended"
                },
                {
                    "name": "LOC108352018",
                    "type": "synonym"
                },
                {
                    "name": "Mymx",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A557-1",
            "evidence": [
                {
                    "id": "0061116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061116"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061116"
}