{
    "disease_id": "DOID:0060576",
    "recommended_name": {
        "id": "DOID:0060576",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060576",
        "name": "3MC syndrome 2",
        "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "3MC syndrome 2",
            "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene."
        },
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "3MC syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "3MC syndrome caused by mutation in COLEC11",
            "description": ""
        },
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "3MC syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "3Mc syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "COLEC11 3MC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "3MC2",
            "description": ""
        },
        {
            "id": "MONDO:0009927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "name": "Carnevale syndrome",
            "description": ""
        },
        {
            "id": "MIM:265050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/265050",
            "name": "3MC syndrome 2",
            "description": "3MC syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060576"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060576",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060576",
            "categories": []
        },
        {
            "id": "MONDO:0009927",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009927",
            "categories": []
        },
        {
            "id": "MIM:265050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/265050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U3G1-1",
            "uniprot_ac": "Q5U3G1",
            "uniprot_id": "COL11_DANRE",
            "refseq_ac": "NP_001007332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collectin-11",
                    "type": "recommended"
                },
                {
                    "name": "collectin-11 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collectin-11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "colec11",
                    "type": "recommended"
                },
                {
                    "name": "colec11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb82e09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103572",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3G1-1",
            "evidence": [
                {
                    "id": "0060576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3SXB8-1",
            "uniprot_ac": "Q3SXB8",
            "uniprot_id": "COL11_MOUSE",
            "refseq_ac": "NP_082142",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collectin-11",
                    "type": "recommended"
                },
                {
                    "name": "CL-K1",
                    "type": "synonym"
                },
                {
                    "name": "Collectin kidney protein 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin kidney protein 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin-11 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collectin-11",
                    "type": "synonym"
                },
                {
                    "name": "collectin-L2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Colec11",
                    "type": "recommended"
                },
                {
                    "name": "CL-K1",
                    "type": "synonym"
                },
                {
                    "name": "Colec11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3SXB8-1",
            "evidence": [
                {
                    "id": "0060576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BWP8-1",
            "uniprot_ac": "Q9BWP8",
            "uniprot_id": "COL11_HUMAN",
            "refseq_ac": "NP_001242911",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collectin-11",
                    "type": "recommended"
                },
                {
                    "name": "CL-K1",
                    "type": "synonym"
                },
                {
                    "name": "Collectin K1",
                    "type": "synonym"
                },
                {
                    "name": "Collectin kidney protein 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin kidney protein 1",
                    "type": "synonym"
                },
                {
                    "name": "collectin sub-family member 11",
                    "type": "synonym"
                },
                {
                    "name": "collectin-11 isoform c precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COLEC11",
                    "type": "recommended"
                },
                {
                    "name": "3MC2",
                    "type": "synonym"
                },
                {
                    "name": "CL-11",
                    "type": "synonym"
                },
                {
                    "name": "CL-K1-IIa",
                    "type": "synonym"
                },
                {
                    "name": "CL-K1-IIb",
                    "type": "synonym"
                },
                {
                    "name": "CL-K1-II",
                    "type": "synonym"
                },
                {
                    "name": "CL-K1-I",
                    "type": "synonym"
                },
                {
                    "name": "CLK1",
                    "type": "synonym"
                },
                {
                    "name": "COLEC11",
                    "type": "synonym"
                },
                {
                    "name": "PRO1182",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BWP8-1",
            "evidence": [
                {
                    "id": "265050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/265050"
                },
                {
                    "id": "0060576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62083-1",
            "uniprot_ac": "P62083",
            "uniprot_id": "RS7_RAT",
            "refseq_ac": "NP_113758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS7",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S7",
                    "type": "synonym"
                },
                {
                    "name": "S8",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Colec11",
                    "type": "recommended"
                },
                {
                    "name": "Rps7",
                    "type": "recommended"
                },
                {
                    "name": "Colec11",
                    "type": "synonym"
                },
                {
                    "name": "Rps7-ps23",
                    "type": "synonym"
                },
                {
                    "name": "Rps7",
                    "type": "synonym"
                }
            ],
            "record_id": "P62083-1",
            "evidence": [
                {
                    "id": "0060576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060576"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZU7-1",
            "uniprot_ac": "B7YZU7",
            "uniprot_id": "B7YZU7_DROME",
            "refseq_ac": "NP_001137766",
            "glycoprotein": "no",
            "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"
                },
                {
                    "name": "lectin-22C",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZU7-1",
            "evidence": [
                {
                    "id": "0060576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060576"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0060576",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060576"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060576"
}