{
    "disease_id": "DOID:0061115",
    "recommended_name": {
        "id": "DOID:0061115",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061115",
        "name": "Carey-Fineman-Ziter syndrome 1",
        "description": "A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that  has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0061115",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061115",
            "name": "CFZS1",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "Carey-Fineman-Ziter syndrome 1",
            "description": "A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay."
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "CFZS1",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "Carey-Fineman-Ziter syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "myopathy-Moebius-Robin syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "CFZS",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "Carey Fineman Ziter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "Moebius sequence, Robin complex, and hypotonia",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "congenital nonprogressive myopathy with Moebius and Robin sequences",
            "description": ""
        },
        {
            "id": "MONDO:0800437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "name": "myopathy, congenital nonprogressive with Moebius and Robin sequences",
            "description": ""
        },
        {
            "id": "MIM:254940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254940",
            "name": "Carey-Fineman-Ziter syndrome 1",
            "description": "Carey-Fineman-Ziter syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061115"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061115",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061115",
            "categories": []
        },
        {
            "id": "MONDO:0800437",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800437",
            "categories": []
        },
        {
            "id": "MIM:254940",
            "database": "MIM",
            "url": "https://www.omim.org/entry/254940",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A6NI61-1",
            "uniprot_ac": "A6NI61",
            "uniprot_id": "MYMK_HUMAN",
            "refseq_ac": "NP_001073952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein myomaker",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Myoblast fusion maker",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 226",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 8C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "protein myomaker",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 226; transmembrane protein 8C; myoblast fusion maker",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYMK",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "MYMK",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MYOMAKER; TMEM226; TMEM8C",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TMEM226",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TMEM8C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "254940",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/254940"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061115"
}