{
    "disease_id": "DOID:0070122",
    "recommended_name": {
        "id": "DOID:0070122",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070122",
        "name": "Meckel syndrome 8",
        "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0070122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070122",
            "name": "MKS8",
            "description": ""
        },
        {
            "id": "DOID:0070122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070122",
            "name": "Meckel-Gruber syndrome, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013482",
            "name": "Meckel syndrome, type 8",
            "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene."
        },
        {
            "id": "MONDO:0013482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013482",
            "name": "MKS8",
            "description": ""
        },
        {
            "id": "MONDO:0013482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013482",
            "name": "Meckel syndrome caused by mutation in TCTN2",
            "description": ""
        },
        {
            "id": "MONDO:0013482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013482",
            "name": "Meckel syndrome, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013482",
            "name": "TCTN2 Meckel syndrome",
            "description": ""
        },
        {
            "id": "MIM:613885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613885",
            "name": "Meckel syndrome 8",
            "description": "Meckel syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070122"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070122",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070122",
            "categories": []
        },
        {
            "id": "MONDO:0013482",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013482",
            "categories": []
        },
        {
            "id": "MIM:613885",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613885",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JNN9-1",
            "uniprot_ac": "A0AC58JNN9",
            "uniprot_id": "A0AC58JNN9_DANRE",
            "refseq_ac": "XP_073808087",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tctn2",
                    "type": "recommended"
                },
                {
                    "name": "tctn2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JNN9-1",
            "evidence": [
                {
                    "id": "0070122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2MV57-1",
            "uniprot_ac": "Q2MV57",
            "uniprot_id": "TECT2_MOUSE",
            "refseq_ac": "NP_080762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-2",
                    "type": "recommended"
                },
                {
                    "name": "tectonic-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tctn2",
                    "type": "recommended"
                },
                {
                    "name": "4432405B04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tctn2",
                    "type": "synonym"
                },
                {
                    "name": "Tect2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2MV57-1",
            "evidence": [
                {
                    "id": "0070122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96GX1-1",
            "uniprot_ac": "Q96GX1",
            "uniprot_id": "TECT2_HUMAN",
            "refseq_ac": "NP_001137322",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-2",
                    "type": "recommended"
                },
                {
                    "name": "tectonic-2 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCTN2",
                    "type": "recommended"
                },
                {
                    "name": "C12orf38",
                    "type": "synonym"
                },
                {
                    "name": "JBTS24",
                    "type": "synonym"
                },
                {
                    "name": "MKS8",
                    "type": "synonym"
                },
                {
                    "name": "TCTN2",
                    "type": "synonym"
                },
                {
                    "name": "TECT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96GX1-1",
            "evidence": [
                {
                    "id": "613885",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613885"
                },
                {
                    "id": "0070122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3B7D3-1",
            "uniprot_ac": "Q3B7D3",
            "uniprot_id": "TECT2_RAT",
            "refseq_ac": "NP_001074251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-2",
                    "type": "recommended"
                },
                {
                    "name": "tectonic-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnah10",
                    "type": "recommended"
                },
                {
                    "name": "Tctn2",
                    "type": "recommended"
                },
                {
                    "name": "Tctn2",
                    "type": "synonym"
                },
                {
                    "name": "Tect2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3B7D3-1",
            "evidence": [
                {
                    "id": "0070122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070122"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070122"
}