{
    "disease_id": "DOID:0060577",
    "recommended_name": {
        "id": "DOID:0060577",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060577",
        "name": "3MC syndrome 3",
        "description": "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "3MC syndrome 3",
            "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene."
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "3MC syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "3MC syndrome caused by mutation in COLEC10",
            "description": ""
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "3MC syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "3Mc syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "COLEC10 3MC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "3MC3",
            "description": ""
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "Malpuech Facial clefting syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009554",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "name": "facial clefting syndrome, Gypsy type",
            "description": ""
        },
        {
            "id": "MIM:248340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248340",
            "name": "3MC syndrome 3",
            "description": "3MC syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060577"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060577",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060577",
            "categories": []
        },
        {
            "id": "MONDO:0009554",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009554",
            "categories": []
        },
        {
            "id": "MIM:248340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248340",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IRN4-1",
            "uniprot_ac": "A0A0R4IRN4",
            "uniprot_id": "A0A0R4IRN4_DANRE",
            "refseq_ac": "NP_001276917",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collectin-10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collectin-10 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "colec10",
                    "type": "recommended"
                },
                {
                    "name": "colec10",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-93i7.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IRN4-1",
            "evidence": [
                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CF98-1",
            "uniprot_ac": "Q8CF98",
            "uniprot_id": "COL10_MOUSE",
            "refseq_ac": "NP_775598",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collectin-10",
                    "type": "recommended"
                },
                {
                    "name": "CL-L1",
                    "type": "synonym"
                },
                {
                    "name": "Collectin liver protein 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin liver 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin liver protein 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin-10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collectin-10",
                    "type": "synonym"
                },
                {
                    "name": "collectin-L1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Colec10",
                    "type": "recommended"
                },
                {
                    "name": "CL-L1",
                    "type": "synonym"
                },
                {
                    "name": "Cll1",
                    "type": "synonym"
                },
                {
                    "name": "Colec10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CF98-1",
            "evidence": [
                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6Z7-1",
            "uniprot_ac": "Q9Y6Z7",
            "uniprot_id": "COL10_HUMAN",
            "refseq_ac": "NP_001311024",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collectin-10",
                    "type": "recommended"
                },
                {
                    "name": "CL-34",
                    "type": "synonym"
                },
                {
                    "name": "CL-L1",
                    "type": "synonym"
                },
                {
                    "name": "Collectin liver protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Collectin-34",
                    "type": "synonym"
                },
                {
                    "name": "collectin liver 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin liver protein 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin sub-family member 10 (C-type lectin)",
                    "type": "synonym"
                },
                {
                    "name": "collectin-10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "collectin-10",
                    "type": "synonym"
                },
                {
                    "name": "collectin-34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COLEC10",
                    "type": "recommended"
                },
                {
                    "name": "3MC3",
                    "type": "synonym"
                },
                {
                    "name": "CL-10",
                    "type": "synonym"
                },
                {
                    "name": "CL-34",
                    "type": "synonym"
                },
                {
                    "name": "CLL1",
                    "type": "synonym"
                },
                {
                    "name": "COLEC10",
                    "type": "synonym"
                },
                {
                    "name": "PRO702",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6Z7-1",
            "evidence": [
                {
                    "id": "248340",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248340"
                },
                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7F6-1",
            "uniprot_ac": "D4A7F6",
            "uniprot_id": "D4A7F6_RAT",
            "refseq_ac": "NP_001124013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collectin subfamily member 10",
                    "type": "synonym"
                },
                {
                    "name": "collectin sub-family member 10 (C-type lectin)",
                    "type": "synonym"
                },
                {
                    "name": "collectin-10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collectin-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Colec10",
                    "type": "recommended"
                },
                {
                    "name": "Colec10",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7F6-1",
            "evidence": [
                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26453-1",
            "uniprot_ac": "P26453",
            "uniprot_id": "BASI_RAT",
            "refseq_ac": "NP_001103352",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basigin",
                    "type": "recommended"
                },
                {
                    "name": "Basigin (Ox47 antigen or CE-9) (EMMPRIN in human) (neurothelin HT7 or 5A11 in avian)",
                    "type": "synonym"
                },
                {
                    "name": "Basignin (Ox47 antigen or CE-9) (EMMPRIN in human) (neurothelin HT7 or 5A11 in avian)",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein CE9",
                    "type": "synonym"
                },
                {
                    "name": "OX-47 antigen",
                    "type": "synonym"
                },
                {
                    "name": "basigin (Ok blood group)",
                    "type": "synonym"
                },
                {
                    "name": "basigin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein CE9",
                    "type": "synonym"
                },
                {
                    "name": "neurothelin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bsg",
                    "type": "recommended"
                },
                {
                    "name": "5A11",
                    "type": "synonym"
                },
                {
                    "name": "Bsg",
                    "type": "synonym"
                },
                {
                    "name": "CE9",
                    "type": "synonym"
                },
                {
                    "name": "EMMPRIN",
                    "type": "synonym"
                },
                {
                    "name": "HT7",
                    "type": "synonym"
                },
                {
                    "name": "Ox47R",
                    "type": "synonym"
                },
                {
                    "name": "basignin",
                    "type": "synonym"
                }
            ],
            "record_id": "P26453-1",
            "evidence": [
                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PB26-1",
            "uniprot_ac": "M9PB26",
            "uniprot_id": "M9PB26_DROME",
            "refseq_ac": "NP_001260012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-type lectin domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG43797-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG43797",
                    "type": "recommended"
                },
                {
                    "name": "CG43797",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43797",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43797",
                    "type": "synonym"
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            ],
            "record_id": "M9PB26-1",
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                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZU7-1",
            "uniprot_ac": "B7YZU7",
            "uniprot_id": "B7YZU7_DROME",
            "refseq_ac": "NP_001137766",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42295-PB",
                    "type": "synonym"
                },
                {
                    "name": "Lectin-22C",
                    "type": "synonym"
                },
                {
                    "name": "Lectin22C",
                    "type": "synonym"
                },
                {
                    "name": "lectin 22C",
                    "type": "synonym"
                },
                {
                    "name": "lectin-22C-PB",
                    "type": "synonym"
                },
                {
                    "name": "lectin-22C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lectin-22C",
                    "type": "recommended"
                },
                {
                    "name": "AC 004716A",
                    "type": "synonym"
                },
                {
                    "name": "AC004716a",
                    "type": "synonym"
                },
                {
                    "name": "CG15378",
                    "type": "synonym"
                },
                {
                    "name": "CG42295",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42295",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42295",
                    "type": "synonym"
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                {
                    "name": "lectin-22C",
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            ],
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                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM16-1",
            "uniprot_ac": "Q9VM16",
            "uniprot_id": "Q9VM16_DROME",
            "refseq_ac": "NP_609116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-type lectin domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG15818-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15818",
                    "type": "recommended"
                },
                {
                    "name": "CG15818",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15818",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15818",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM16-1",
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                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPS1-1",
            "uniprot_ac": "Q9VPS1",
            "uniprot_id": "Q9VPS1_DROME",
            "refseq_ac": "NP_608539",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13686-PB",
                    "type": "synonym"
                },
                {
                    "name": "Lectin-21Cb",
                    "type": "synonym"
                },
                {
                    "name": "Lectin21Cb",
                    "type": "synonym"
                },
                {
                    "name": "lectin-21Cb-PB",
                    "type": "synonym"
                },
                {
                    "name": "lectin-21Cb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lectin-21Cb",
                    "type": "recommended"
                },
                {
                    "name": "AC 004573B",
                    "type": "synonym"
                },
                {
                    "name": "AC004573b",
                    "type": "synonym"
                },
                {
                    "name": "CG13686",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13686",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13686",
                    "type": "synonym"
                },
                {
                    "name": "lectin-21Cb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPS1-1",
            "evidence": [
                {
                    "id": "0060577",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060577"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060577"
}