{
    "disease_id": "DOID:0080592",
    "recommended_name": {
        "id": "DOID:0080592",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080592",
        "name": "Klippel-Feil syndrome 4",
        "description": "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "KFS4",
            "description": ""
        },
        {
            "id": "MONDO:0014689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "name": "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism",
            "description": ""
        },
        {
            "id": "MIM:616549",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616549",
            "name": "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism",
            "description": "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080592"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080592",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080592",
            "categories": []
        },
        {
            "id": "MONDO:0014689",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014689",
            "categories": []
        },
        {
            "id": "MIM:616549",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616549",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9PV66-1",
            "uniprot_ac": "E9PV66",
            "uniprot_id": "E9PV66_MOUSE",
            "refseq_ac": "NP_083177",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin XVIIIb",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XVIIIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo18b",
                    "type": "recommended"
                },
                {
                    "name": "4932408L24Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933411E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm448",
                    "type": "synonym"
                },
                {
                    "name": "Myo18b",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PV66-1",
            "evidence": [
                {
                    "id": "0080592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IUG5-1",
            "uniprot_ac": "Q8IUG5",
            "uniprot_id": "MY18B_HUMAN",
            "refseq_ac": "NP_001305174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-XVIIIb",
                    "type": "recommended"
                },
                {
                    "name": "myosin 18B",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XVIIIb isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XVIIIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO18B",
                    "type": "recommended"
                },
                {
                    "name": "KFS4",
                    "type": "synonym"
                },
                {
                    "name": "MYO18B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IUG5-1",
            "evidence": [
                {
                    "id": "616549",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616549"
                },
                {
                    "id": "0080592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R6Z9-1",
            "uniprot_ac": "M0R6Z9",
            "uniprot_id": "M0R6Z9_RAT",
            "refseq_ac": "NP_001419354",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin XVIIIb",
                    "type": "synonym"
                },
                {
                    "name": "myosin XVIIIb",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XVIIIb-like",
                    "type": "synonym"
                },
                {
                    "name": "unconventional myosin-XVIIIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo18b",
                    "type": "recommended"
                },
                {
                    "name": "Myo18b",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R6Z9-1",
            "evidence": [
                {
                    "id": "0080592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INC3-1",
            "uniprot_ac": "Q8INC3",
            "uniprot_id": "Q8INC3_DROME",
            "refseq_ac": "NP_732109",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31045-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mhcl-PB",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Myosin-heavy-chain-like",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-myosin",
                    "type": "synonym"
                },
                {
                    "name": "myosin 18",
                    "type": "synonym"
                },
                {
                    "name": "myosin XVIII (PDZ)",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mhcl",
                    "type": "recommended"
                },
                {
                    "name": "CG10218",
                    "type": "synonym"
                },
                {
                    "name": "CG10224",
                    "type": "synonym"
                },
                {
                    "name": "CG31045",
                    "type": "synonym"
                },
                {
                    "name": "DmPDZ",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31045",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31045",
                    "type": "synonym"
                },
                {
                    "name": "MHCL(PDZ)",
                    "type": "synonym"
                },
                {
                    "name": "Mhcl",
                    "type": "synonym"
                },
                {
                    "name": "Myo7A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INC3-1",
            "evidence": [
                {
                    "id": "0080592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080592"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080592"
}