{
    "disease_id": "DOID:0060225",
    "recommended_name": {
        "id": "DOID:0060225",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060225",
        "name": "3MC syndrome",
        "description": "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes."
    },
    "synonyms": [
        {
            "id": "DOID:0060225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060225",
            "name": "craniofacial-ulnar-renal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060225",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060225",
            "name": "oculopalatoskeletal syndrome",
            "description": ""
        },
        {
            "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": "DOID:0060575",
            "label": "3MC syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060576",
            "label": "3MC syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060577",
            "label": "3MC syndrome 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060577",
        "DOID:0060575",
        "DOID:0060225",
        "DOID:0060576"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060225",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060225",
            "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": "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060225"
}