{
    "disease_id": "DOID:0051021",
    "recommended_name": {
        "id": "DOID:0051021",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051021",
        "name": "visceral heterotaxy 7",
        "description": "A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0014762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014762",
            "name": "heterotaxy, visceral, 7, autosomal",
            "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene."
        },
        {
            "id": "MONDO:0014762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014762",
            "name": "HTX7",
            "description": ""
        },
        {
            "id": "MONDO:0014762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014762",
            "name": "MMP21 visceral heterotaxy",
            "description": ""
        },
        {
            "id": "MONDO:0014762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014762",
            "name": "heterotaxy, visceral, 7, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0014762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014762",
            "name": "heterotaxy, visceral, 7, autosomal; HTX7",
            "description": ""
        },
        {
            "id": "MONDO:0014762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014762",
            "name": "visceral heterotaxy caused by mutation in MMP21",
            "description": ""
        },
        {
            "id": "MIM:616749",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616749",
            "name": "Heterotaxy, visceral, 7, autosomal",
            "description": "Heterotaxy, visceral, 7, autosomal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051021"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051021",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051021",
            "categories": []
        },
        {
            "id": "MONDO:0014762",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014762",
            "categories": []
        },
        {
            "id": "MIM:616749",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616749",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0N9E2K8-1",
            "uniprot_ac": "A0A0N9E2K8",
            "uniprot_id": "MMP21_DANRE",
            "refseq_ac": "NP_001304682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metallopeptidase-21",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "MMP-21",
                    "type": "synonym"
                },
                {
                    "name": "matrix metallopeptidase-21 precursor",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmp21",
                    "type": "recommended"
                },
                {
                    "name": "MMP-21",
                    "type": "synonym"
                },
                {
                    "name": "mmp21",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0N9E2K8-1",
            "evidence": [
                {
                    "id": "0051021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3F2-1",
            "uniprot_ac": "Q8K3F2",
            "uniprot_id": "MMP21_MOUSE",
            "refseq_ac": "NP_694423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-21",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "MMP-21",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-21 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp21",
                    "type": "recommended"
                },
                {
                    "name": "Mmp21",
                    "type": "synonym"
                },
                {
                    "name": "b2b2458Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b873Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3F2-1",
            "evidence": [
                {
                    "id": "0051021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N119-1",
            "uniprot_ac": "Q8N119",
            "uniprot_id": "MMP21_HUMAN",
            "refseq_ac": "NP_671724",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-21",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "MMP-21",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase 21",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-21 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMP21",
                    "type": "recommended"
                },
                {
                    "name": "HTX7",
                    "type": "synonym"
                },
                {
                    "name": "MMP-21",
                    "type": "synonym"
                },
                {
                    "name": "MMP21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N119-1",
            "evidence": [
                {
                    "id": "616749",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616749"
                },
                {
                    "id": "0051021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZ42-1",
            "uniprot_ac": "D3ZZ42",
            "uniprot_id": "D3ZZ42_RAT",
            "refseq_ac": "NP_001099778",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrix metalloproteinase-21",
                    "type": "recommended"
                },
                {
                    "name": "matrix metalloproteinase 21",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloproteinase-21 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmp21",
                    "type": "recommended"
                },
                {
                    "name": "Mmp21",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZZ42-1",
            "evidence": [
                {
                    "id": "0051021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051021"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051021"
}