{
    "disease_id": "DOID:0051017",
    "recommended_name": {
        "id": "DOID:0051017",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051017",
        "name": "visceral heterotaxy 2",
        "description": "A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0011546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011546",
            "name": "heterotaxy, visceral, 2, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0011546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011546",
            "name": "DTGA2",
            "description": ""
        },
        {
            "id": "MONDO:0011546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011546",
            "name": "heterotaxy, visceral, 2, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0011546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011546",
            "name": "transposition of the great arteries, dextro-looped 2",
            "description": ""
        },
        {
            "id": "MONDO:0011546",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011546",
            "name": "HTX2",
            "description": ""
        },
        {
            "id": "MIM:605376",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605376",
            "name": "Heterotaxy, visceral, 2, autosomal",
            "description": "Heterotaxy, visceral, 2, autosomal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051017"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051017",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051017",
            "categories": []
        },
        {
            "id": "MONDO:0011546",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011546",
            "categories": []
        },
        {
            "id": "MIM:605376",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605376",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97766-1",
            "uniprot_ac": "P97766",
            "uniprot_id": "CFC1_MOUSE",
            "refseq_ac": "NP_031711",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cryptic protein",
                    "type": "recommended"
                },
                {
                    "name": "cripto, FRL-1, cryptic family 1",
                    "type": "synonym"
                },
                {
                    "name": "cryptic protein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfc1",
                    "type": "recommended"
                },
                {
                    "name": "Cfc1",
                    "type": "synonym"
                },
                {
                    "name": "b2b970Clo",
                    "type": "synonym"
                },
                {
                    "name": "cryptic",
                    "type": "synonym"
                }
            ],
            "record_id": "P97766-1",
            "evidence": [
                {
                    "id": "0051017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CG37-1",
            "uniprot_ac": "P0CG37",
            "uniprot_id": "CFC1_HUMAN",
            "refseq_ac": "NP_001257349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cryptic protein",
                    "type": "recommended"
                },
                {
                    "name": "Cryptic family protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cripto, FRL-1, cryptic family 1",
                    "type": "synonym"
                },
                {
                    "name": "cryptic family protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cryptic protein isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "heterotaxy 2 (autosomal dominant)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFC1",
                    "type": "recommended"
                },
                {
                    "name": "CFC1",
                    "type": "synonym"
                },
                {
                    "name": "CRYPTIC",
                    "type": "synonym"
                },
                {
                    "name": "DTGA2",
                    "type": "synonym"
                },
                {
                    "name": "HTX2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CG37-1",
            "evidence": [
                {
                    "id": "605376",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605376"
                },
                {
                    "id": "0051017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051017"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GC89-1",
            "uniprot_ac": "A0A8I6GC89",
            "uniprot_id": "A0A8I6GC89_RAT",
            "refseq_ac": "NP_001102774",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cripto, FRL-1, cryptic family 1",
                    "type": "synonym"
                },
                {
                    "name": "cripto, FRL-1, cryptic family 1",
                    "type": "synonym"
                },
                {
                    "name": "cryptic protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfc1",
                    "type": "recommended"
                },
                {
                    "name": "Cfc1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562188",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GC89-1",
            "evidence": [
                {
                    "id": "0051017",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051017"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051017"
}