{
    "disease_id": "DOID:0080403",
    "recommended_name": {
        "id": "DOID:0080403",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080403",
        "name": "orofacial cleft 10",
        "description": "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0080403",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080403",
            "name": "nonsyndromic cleft lip with or without cleft palate 10",
            "description": ""
        },
        {
            "id": "MONDO:0013378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "name": "orofacial cleft 10",
            "description": "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene."
        },
        {
            "id": "MONDO:0013378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "name": "SUMO1 orofacial cleft",
            "description": ""
        },
        {
            "id": "MONDO:0013378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "name": "orofacial cleft 10",
            "description": ""
        },
        {
            "id": "MONDO:0013378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "name": "orofacial cleft 10, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0013378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "name": "orofacial cleft caused by mutation in SUMO1",
            "description": ""
        },
        {
            "id": "MONDO:0013378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "name": "orofacial cleft type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "name": "OFC10",
            "description": ""
        },
        {
            "id": "MIM:613705",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613705",
            "name": "Non-syndromic orofacial cleft 10",
            "description": "Non-syndromic orofacial cleft 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080403"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080403",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080403",
            "categories": []
        },
        {
            "id": "MONDO:0013378",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013378",
            "categories": []
        },
        {
            "id": "MIM:613705",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613705",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZR5-1",
            "uniprot_ac": "Q7SZR5",
            "uniprot_id": "SUMO1_DANRE",
            "refseq_ac": "NP_998324",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ubiquitin-related modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "SUMO-1",
                    "type": "synonym"
                },
                {
                    "name": "small ubiquitin-related modifier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sumo1",
                    "type": "recommended"
                },
                {
                    "name": "fd12c02",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh0670",
                    "type": "synonym"
                },
                {
                    "name": "sumo1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb74c02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd12c02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65934",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85634",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZR5-1",
            "evidence": [
                {
                    "id": "0080403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63166-1",
            "uniprot_ac": "P63166",
            "uniprot_id": "SUMO1_MOUSE",
            "refseq_ac": "NP_033486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ubiquitin-related modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "SMT3 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "SMT3 suppressor of mif two 3 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SUMO-1 related peptidase",
                    "type": "synonym"
                },
                {
                    "name": "SUMO-1",
                    "type": "synonym"
                },
                {
                    "name": "Smt3C",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-homology domain protein PIC1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-like protein SMT3C",
                    "type": "synonym"
                },
                {
                    "name": "small ubiquitin-related modifier 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-homology domain protein PIC1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like protein SMT3C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sumo1",
                    "type": "recommended"
                },
                {
                    "name": "GMP1",
                    "type": "synonym"
                },
                {
                    "name": "PIC1",
                    "type": "synonym"
                },
                {
                    "name": "SENTRIN",
                    "type": "synonym"
                },
                {
                    "name": "SMT3H3",
                    "type": "synonym"
                },
                {
                    "name": "SMT3",
                    "type": "synonym"
                },
                {
                    "name": "SMTP3",
                    "type": "synonym"
                },
                {
                    "name": "SUMO-1",
                    "type": "synonym"
                },
                {
                    "name": "Smt3C",
                    "type": "synonym"
                },
                {
                    "name": "Smt3c",
                    "type": "synonym"
                },
                {
                    "name": "Smt3h3",
                    "type": "synonym"
                },
                {
                    "name": "Sumo1",
                    "type": "synonym"
                },
                {
                    "name": "Ubl1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63166-1",
            "evidence": [
                {
                    "id": "0080403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63165-1",
            "uniprot_ac": "P63165",
            "uniprot_id": "SUMO1_HUMAN",
            "refseq_ac": "NP_001005781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ubiquitin-related modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "GAP modifying protein 1",
                    "type": "synonym"
                },
                {
                    "name": "GAP-modifying protein 1",
                    "type": "synonym"
                },
                {
                    "name": "GMP1",
                    "type": "synonym"
                },
                {
                    "name": "SMT3 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "SMT3 suppressor of mif two 3 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SUMO-1",
                    "type": "synonym"
                },
                {
                    "name": "Sentrin",
                    "type": "synonym"
                },
                {
                    "name": "Smt3C",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-homology domain protein PIC1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-like protein SMT3C",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-like protein UBL1",
                    "type": "synonym"
                },
                {
                    "name": "sentrin",
                    "type": "synonym"
                },
                {
                    "name": "small ubiquitin-related modifier 1 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-homology domain protein PIC1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like protein SMT3C",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like protein UBL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SUMO1",
                    "type": "recommended"
                },
                {
                    "name": "DAP1",
                    "type": "synonym"
                },
                {
                    "name": "GMP1",
                    "type": "synonym"
                },
                {
                    "name": "OFC10",
                    "type": "synonym"
                },
                {
                    "name": "PIC1",
                    "type": "synonym"
                },
                {
                    "name": "SMT3C",
                    "type": "synonym"
                },
                {
                    "name": "SMT3H3",
                    "type": "synonym"
                },
                {
                    "name": "SMT3",
                    "type": "synonym"
                },
                {
                    "name": "SUMO1",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.43",
                    "type": "synonym"
                },
                {
                    "name": "UBL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63165-1",
            "evidence": [
                {
                    "id": "613705",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613705"
                },
                {
                    "id": "0080403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12306-1",
            "uniprot_ac": "Q12306",
            "uniprot_id": "SUMO_YEAST",
            "refseq_ac": "NP_010798",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ubiquitin-related modifier",
                    "type": "recommended"
                },
                {
                    "name": "SUMO family protein SMT3",
                    "type": "synonym"
                },
                {
                    "name": "SUMO",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of mif two",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-like protein SMT3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMT3",
                    "type": "recommended"
                },
                {
                    "name": "D9719.15",
                    "type": "synonym"
                },
                {
                    "name": "SMT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12306-1",
            "evidence": [
                {
                    "id": "0080403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0H3-1",
            "uniprot_ac": "Q5I0H3",
            "uniprot_id": "SUMO1_RAT",
            "refseq_ac": "NP_001009672",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ubiquitin-related modifier 1",
                    "type": "recommended"
                },
                {
                    "name": "SMT3 suppressor of mif two 3 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "SUMO-1",
                    "type": "synonym"
                },
                {
                    "name": "small ubiquitin-related modifier 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like 1 (sentrin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sumo1",
                    "type": "recommended"
                },
                {
                    "name": "LOC120102380",
                    "type": "synonym"
                },
                {
                    "name": "Sumo1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0H3-1",
            "evidence": [
                {
                    "id": "0080403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080403"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080403"
}