{
    "disease_id": "DOID:0080399",
    "recommended_name": {
        "id": "DOID:0080399",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080399",
        "name": "orofacial cleft 5",
        "description": "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16."
    },
    "synonyms": [
        {
            "id": "DOID:0080399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080399",
            "name": "nonsyndromic cleft lip with or without cleft palate 5",
            "description": ""
        },
        {
            "id": "MONDO:0012142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012142",
            "name": "orofacial cleft 5",
            "description": "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene."
        },
        {
            "id": "MONDO:0012142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012142",
            "name": "MSX1 orofacial cleft",
            "description": ""
        },
        {
            "id": "MONDO:0012142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012142",
            "name": "orofacial cleft 5",
            "description": ""
        },
        {
            "id": "MONDO:0012142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012142",
            "name": "orofacial cleft caused by mutation in MSX1",
            "description": ""
        },
        {
            "id": "MONDO:0012142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012142",
            "name": "orofacial cleft type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012142",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012142",
            "name": "OFC5",
            "description": ""
        },
        {
            "id": "MIM:608874",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608874",
            "name": "Non-syndromic orofacial cleft 5",
            "description": "Non-syndromic orofacial cleft 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080399"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080399",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080399",
            "categories": []
        },
        {
            "id": "MONDO:0012142",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012142",
            "categories": []
        },
        {
            "id": "MIM:608874",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608874",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P13297-1",
            "uniprot_ac": "P13297",
            "uniprot_id": "MSX1_MOUSE",
            "refseq_ac": "NP_034965",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSX-1",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-7",
                    "type": "synonym"
                },
                {
                    "name": "Hox-7.1",
                    "type": "synonym"
                },
                {
                    "name": "Msh homeobox 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "homeo box, msh-like 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-7",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MSX-1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox, msh-like 1",
                    "type": "synonym"
                },
                {
                    "name": "hox-7.1",
                    "type": "synonym"
                },
                {
                    "name": "msh homeobox 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "muscle-segment homeobox",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msx1",
                    "type": "recommended"
                },
                {
                    "name": "Hox-7",
                    "type": "synonym"
                },
                {
                    "name": "Hox7.1",
                    "type": "synonym"
                },
                {
                    "name": "Hox7",
                    "type": "synonym"
                },
                {
                    "name": "Msx1",
                    "type": "synonym"
                },
                {
                    "name": "msh",
                    "type": "synonym"
                }
            ],
            "record_id": "P13297-1",
            "evidence": [
                {
                    "id": "0080399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28360-1",
            "uniprot_ac": "P28360",
            "uniprot_id": "MSX1_HUMAN",
            "refseq_ac": "NP_002439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSX-1",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Hox-7",
                    "type": "synonym"
                },
                {
                    "name": "Msh homeobox 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "homeobox 7",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Hox-7",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MSX-1",
                    "type": "synonym"
                },
                {
                    "name": "msh homeo box 1",
                    "type": "synonym"
                },
                {
                    "name": "msh homeobox 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "msh homeobox homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSX1",
                    "type": "recommended"
                },
                {
                    "name": "ECTD3",
                    "type": "synonym"
                },
                {
                    "name": "HOX7",
                    "type": "synonym"
                },
                {
                    "name": "HYD1",
                    "type": "synonym"
                },
                {
                    "name": "MSX1",
                    "type": "synonym"
                },
                {
                    "name": "STHAG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28360-1",
            "evidence": [
                {
                    "id": "608874",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608874"
                },
                {
                    "id": "0080399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LJN7-1",
            "uniprot_ac": "A0ABK0LJN7",
            "uniprot_id": "A0ABK0LJN7_RAT",
            "refseq_ac": "NP_112321",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein MSX-1",
                    "type": "recommended"
                },
                {
                    "name": "Msh homeobox 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "homeo box, msh-like 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein MSX-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msx1",
                    "type": "recommended"
                },
                {
                    "name": "Msx1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LJN7-1",
            "evidence": [
                {
                    "id": "0080399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03372-1",
            "uniprot_ac": "Q03372",
            "uniprot_id": "HMSH_DROME",
            "refseq_ac": "NP_477324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle segmentation homeobox",
                    "type": "recommended"
                },
                {
                    "name": "CG1897-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dr-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dr-distal",
                    "type": "synonym"
                },
                {
                    "name": "Protein drop",
                    "type": "synonym"
                },
                {
                    "name": "Protein msh",
                    "type": "synonym"
                },
                {
                    "name": "drop",
                    "type": "synonym"
                },
                {
                    "name": "lottchen",
                    "type": "synonym"
                },
                {
                    "name": "muscle segment homeobox",
                    "type": "synonym"
                },
                {
                    "name": "muscle specific homeobox",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific homeodomain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dr",
                    "type": "recommended"
                },
                {
                    "name": "153515_at",
                    "type": "synonym"
                },
                {
                    "name": "99B",
                    "type": "synonym"
                },
                {
                    "name": "CG1897",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1897",
                    "type": "synonym"
                },
                {
                    "name": "Dr/Msh",
                    "type": "synonym"
                },
                {
                    "name": "Dr/msh",
                    "type": "synonym"
                },
                {
                    "name": "Dr",
                    "type": "synonym"
                },
                {
                    "name": "Msh",
                    "type": "synonym"
                },
                {
                    "name": "Msx",
                    "type": "synonym"
                },
                {
                    "name": "l(3)FA30",
                    "type": "synonym"
                },
                {
                    "name": "ltt",
                    "type": "synonym"
                },
                {
                    "name": "msh-1",
                    "type": "synonym"
                },
                {
                    "name": "msh1",
                    "type": "synonym"
                },
                {
                    "name": "msh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03372-1",
            "evidence": [
                {
                    "id": "0080399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080399"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080399"
}