{
    "disease_id": "DOID:0060575",
    "recommended_name": {
        "id": "DOID:0060575",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060575",
        "name": "3MC syndrome 1",
        "description": "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "3MC syndrome 1",
            "description": "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene."
        },
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "3MC syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "3MC syndrome caused by mutation in MASP1",
            "description": ""
        },
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "3MC syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "3Mc syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "MASP1 3MC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "3MC1",
            "description": ""
        },
        {
            "id": "MONDO:0009770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "name": "Michels syndrome",
            "description": ""
        },
        {
            "id": "MIM:257920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/257920",
            "name": "3MC syndrome 1",
            "description": "3MC syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060575"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060575",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060575",
            "categories": []
        },
        {
            "id": "MONDO:0009770",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009770",
            "categories": []
        },
        {
            "id": "MIM:257920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/257920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58H9N0-1",
            "uniprot_ac": "A0AC58H9N0",
            "uniprot_id": "A0AC58H9N0_DANRE",
            "refseq_ac": "XP_073778695",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannan-binding lectin serine protease 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "masp1",
                    "type": "recommended"
                },
                {
                    "name": "MASP3",
                    "type": "synonym"
                },
                {
                    "name": "MAp44",
                    "type": "synonym"
                },
                {
                    "name": "masp1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-75c7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H9N0-1",
            "evidence": [
                {
                    "id": "0060575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98064-1",
            "uniprot_ac": "P98064",
            "uniprot_id": "MASP1_MOUSE",
            "refseq_ac": "NP_032581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannan-binding lectin serine protease 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Complement-activating component of Ra-reactive factor",
                    "type": "synonym"
                },
                {
                    "name": "MASP-1",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-binding lectin-associated serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-binding protein-associated serine protease",
                    "type": "synonym"
                },
                {
                    "name": "Ra-reactive factor serine protease p100",
                    "type": "synonym"
                },
                {
                    "name": "RaRF",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 5",
                    "type": "synonym"
                },
                {
                    "name": "complement factor MASP-3",
                    "type": "synonym"
                },
                {
                    "name": "complement-activating component of Ra-reactive factor",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-binding lectin-associated serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-binding protein-associated serine protease",
                    "type": "synonym"
                },
                {
                    "name": "ra-reactive factor serine protease p100",
                    "type": "synonym"
                },
                {
                    "name": "raRF",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Masp1",
                    "type": "recommended"
                },
                {
                    "name": "CCPII",
                    "type": "synonym"
                },
                {
                    "name": "Crarf",
                    "type": "synonym"
                },
                {
                    "name": "Masp1/3",
                    "type": "synonym"
                },
                {
                    "name": "Masp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P98064-1",
            "evidence": [
                {
                    "id": "0060575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48740-1",
            "uniprot_ac": "P48740",
            "uniprot_id": "MASP1_HUMAN",
            "refseq_ac": "NP_001027019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannan-binding lectin serine protease 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "C4/C2 activating component of Ra-reactive factor",
                    "type": "synonym"
                },
                {
                    "name": "Complement-activating component of Ra-reactive factor",
                    "type": "synonym"
                },
                {
                    "name": "MASP-1",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-binding lectin-associated serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-binding protein-associated serine protease",
                    "type": "synonym"
                },
                {
                    "name": "Ra-reactive factor serine protease p100",
                    "type": "synonym"
                },
                {
                    "name": "RaRF",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 5",
                    "type": "synonym"
                },
                {
                    "name": "complement factor MASP-3",
                    "type": "synonym"
                },
                {
                    "name": "complement-activating component of Ra-reactive factor",
                    "type": "synonym"
                },
                {
                    "name": "mannan binding lectin serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 1 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-associated serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-binding lectin-associated serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-binding protein-associated serine protease",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MASP1",
                    "type": "recommended"
                },
                {
                    "name": "3MC1",
                    "type": "synonym"
                },
                {
                    "name": "CRARF1",
                    "type": "synonym"
                },
                {
                    "name": "CRARF",
                    "type": "synonym"
                },
                {
                    "name": "MAP-1",
                    "type": "synonym"
                },
                {
                    "name": "MAP1",
                    "type": "synonym"
                },
                {
                    "name": "MASP-3",
                    "type": "synonym"
                },
                {
                    "name": "MASP1",
                    "type": "synonym"
                },
                {
                    "name": "MASP3",
                    "type": "synonym"
                },
                {
                    "name": "MASP",
                    "type": "synonym"
                },
                {
                    "name": "MAp44",
                    "type": "synonym"
                },
                {
                    "name": "PRSS5",
                    "type": "synonym"
                },
                {
                    "name": "RaRF",
                    "type": "synonym"
                }
            ],
            "record_id": "P48740-1",
            "evidence": [
                {
                    "id": "257920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/257920"
                },
                {
                    "id": "0060575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CHN8-1",
            "uniprot_ac": "Q8CHN8",
            "uniprot_id": "MASP1_RAT",
            "refseq_ac": "NP_071593",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannan-binding lectin serine protease 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Complement-activating component of Ra-reactive factor",
                    "type": "synonym"
                },
                {
                    "name": "MASP-1",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-binding lectin-associated serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "Mannose-binding protein-associated serine protease",
                    "type": "synonym"
                },
                {
                    "name": "Ra-reactive factor serine protease p100",
                    "type": "synonym"
                },
                {
                    "name": "RaRF",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 5",
                    "type": "synonym"
                },
                {
                    "name": "complement factor MASP-3",
                    "type": "synonym"
                },
                {
                    "name": "complement-activating component of Ra-reactive factor",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine peptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "mannan-binding lectin serine protease 2-like",
                    "type": "synonym"
                },
                {
                    "name": "mannose-binding lectin-associated serine protease 1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-binding protein associated serine protease-1",
                    "type": "synonym"
                },
                {
                    "name": "mannose-binding protein-associated serine protease",
                    "type": "synonym"
                },
                {
                    "name": "ra-reactive factor serine protease p100",
                    "type": "synonym"
                },
                {
                    "name": "raRF",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 5",
                    "type": "synonym"
                },
                {
                    "name": "serine protease MASP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Masp1",
                    "type": "recommended"
                },
                {
                    "name": "Crarf",
                    "type": "synonym"
                },
                {
                    "name": "Masp1/3",
                    "type": "synonym"
                },
                {
                    "name": "Masp1",
                    "type": "synonym"
                },
                {
                    "name": "Masp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHN8-1",
            "evidence": [
                {
                    "id": "0060575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060575"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060575"
}