{
    "disease_id": "DOID:0070120",
    "recommended_name": {
        "id": "DOID:0070120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070120",
        "name": "Meckel syndrome 6",
        "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32."
    },
    "synonyms": [
        {
            "id": "DOID:0070120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070120",
            "name": "MKS6",
            "description": ""
        },
        {
            "id": "DOID:0070120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070120",
            "name": "Meckel-Gruber syndrome, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012848",
            "name": "Meckel syndrome, type 6",
            "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene."
        },
        {
            "id": "MONDO:0012848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012848",
            "name": "CC2D2A Meckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012848",
            "name": "MKS6",
            "description": ""
        },
        {
            "id": "MONDO:0012848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012848",
            "name": "Meckel syndrome caused by mutation in CC2D2A",
            "description": ""
        },
        {
            "id": "MONDO:0012848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012848",
            "name": "Meckel syndrome, type 6",
            "description": ""
        },
        {
            "id": "MIM:612284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612284",
            "name": "Meckel syndrome 6",
            "description": "Meckel syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070120"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070120",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070120",
            "categories": []
        },
        {
            "id": "MONDO:0012848",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012848",
            "categories": []
        },
        {
            "id": "MIM:612284",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612284",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58INI6-1",
            "uniprot_ac": "A0AC58INI6",
            "uniprot_id": "A0AC58INI6_DANRE",
            "refseq_ac": "XP_073795759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cc2d2a",
                    "type": "recommended"
                },
                {
                    "name": "cc2d2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58INI6-1",
            "evidence": [
                {
                    "id": "0070120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CFW7-1",
            "uniprot_ac": "Q8CFW7",
            "uniprot_id": "C2D2A_MOUSE",
            "refseq_ac": "NP_758478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d2a",
                    "type": "recommended"
                },
                {
                    "name": "5730509K17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cc2d2a",
                    "type": "synonym"
                },
                {
                    "name": "b2b1035Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFW7-1",
            "evidence": [
                {
                    "id": "0070120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2K1-4",
            "uniprot_ac": "Q9P2K1",
            "uniprot_id": "C2D2A_HUMAN",
            "refseq_ac": "NP_001073991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil and C2 domain-containing protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CC2D2A",
                    "type": "recommended"
                },
                {
                    "name": "CC2D2A",
                    "type": "synonym"
                },
                {
                    "name": "COACH2",
                    "type": "synonym"
                },
                {
                    "name": "JBTS9",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1345",
                    "type": "synonym"
                },
                {
                    "name": "MKS6",
                    "type": "synonym"
                },
                {
                    "name": "RP93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2K1-4",
            "evidence": [
                {
                    "id": "612284",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612284"
                },
                {
                    "id": "0070120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K9D9-1",
            "uniprot_ac": "A0A0G2K9D9",
            "uniprot_id": "A0A0G2K9D9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain containing 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d2a",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K9D9-1",
            "evidence": [
                {
                    "id": "0070120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAV1-1",
            "uniprot_ac": "A1ZAV1",
            "uniprot_id": "C2D2A_DROME",
            "refseq_ac": "NP_611229",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil and C2 domain-containing protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "CG43370-PD",
                    "type": "synonym"
                },
                {
                    "name": "Cc2d2a-PD",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil and C2 domain containing 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cc2d2a",
                    "type": "recommended"
                },
                {
                    "name": "CC2D2A",
                    "type": "synonym"
                },
                {
                    "name": "CG18432",
                    "type": "synonym"
                },
                {
                    "name": "CG18631",
                    "type": "synonym"
                },
                {
                    "name": "CG43370",
                    "type": "synonym"
                },
                {
                    "name": "Cc2d2a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43370",
                    "type": "synonym"
                },
                {
                    "name": "MKS6",
                    "type": "synonym"
                },
                {
                    "name": "Mks6",
                    "type": "synonym"
                },
                {
                    "name": "cc2d2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAV1-1",
            "evidence": [
                {
                    "id": "0070120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070120"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070120"
}