{
    "disease_id": "DOID:0070117",
    "recommended_name": {
        "id": "DOID:0070117",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070117",
        "name": "Meckel syndrome 3",
        "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070117",
            "name": "MKS3",
            "description": ""
        },
        {
            "id": "DOID:0070117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070117",
            "name": "Meckel-Gruber syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "name": "Meckel syndrome, type 3",
            "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene."
        },
        {
            "id": "MONDO:0011821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "name": "MKS3",
            "description": ""
        },
        {
            "id": "MONDO:0011821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "name": "Meckel syndrome caused by mutation in TMEM67",
            "description": ""
        },
        {
            "id": "MONDO:0011821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "name": "Meckel syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "name": "Meckel-Gruber syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "name": "TMEM67 Meckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "name": "Meckel syndrome type 3",
            "description": ""
        },
        {
            "id": "MIM:607361",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607361",
            "name": "Meckel syndrome 3",
            "description": "Meckel syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070117"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070117",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070117",
            "categories": []
        },
        {
            "id": "MONDO:0011821",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011821",
            "categories": []
        },
        {
            "id": "MIM:607361",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607361",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QB24-1",
            "uniprot_ac": "E9QB24",
            "uniprot_id": "E9QB24_DANRE",
            "refseq_ac": "XP_700974",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meckelin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "meckelin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem67",
                    "type": "recommended"
                },
                {
                    "name": "tmem67",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QB24-1",
            "evidence": [
                {
                    "id": "0070117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BR76-1",
            "uniprot_ac": "Q8BR76",
            "uniprot_id": "MKS3_MOUSE",
            "refseq_ac": "NP_808529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meckelin",
                    "type": "recommended"
                },
                {
                    "name": "Meckel syndrome type 3 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 67",
                    "type": "synonym"
                },
                {
                    "name": "meckel syndrome type 3 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "meckelin precursor",
                    "type": "synonym"
                },
                {
                    "name": "meckelin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem67",
                    "type": "recommended"
                },
                {
                    "name": "5330408M12Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230117O07",
                    "type": "synonym"
                },
                {
                    "name": "Mks3",
                    "type": "synonym"
                },
                {
                    "name": "Tmem67",
                    "type": "synonym"
                },
                {
                    "name": "b2b1163.1Clo",
                    "type": "synonym"
                },
                {
                    "name": "b2b1291.1Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BR76-1",
            "evidence": [
                {
                    "id": "0070117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HYA8-1",
            "uniprot_ac": "Q5HYA8",
            "uniprot_id": "MKS3_HUMAN",
            "refseq_ac": "NP_001135773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meckelin",
                    "type": "recommended"
                },
                {
                    "name": "Meckel syndrome type 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 67",
                    "type": "synonym"
                },
                {
                    "name": "meckel syndrome type 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "meckelin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM67",
                    "type": "recommended"
                },
                {
                    "name": "JBTS6",
                    "type": "synonym"
                },
                {
                    "name": "MECKELIN",
                    "type": "synonym"
                },
                {
                    "name": "MKS3",
                    "type": "synonym"
                },
                {
                    "name": "NPHP11",
                    "type": "synonym"
                },
                {
                    "name": "TMEM67",
                    "type": "synonym"
                },
                {
                    "name": "TNEM67",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HYA8-1",
            "evidence": [
                {
                    "id": "607361",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607361"
                },
                {
                    "id": "0070117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C152-1",
            "uniprot_ac": "P0C152",
            "uniprot_id": "MKS3_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": "Meckelin",
                    "type": "recommended"
                },
                {
                    "name": "Meckel syndrome type 3 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 67",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem67",
                    "type": "recommended"
                },
                {
                    "name": "Mks3",
                    "type": "synonym"
                },
                {
                    "name": "Wpk",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C152-1",
            "evidence": [
                {
                    "id": "0070117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KGJ7-1",
            "uniprot_ac": "A0A0B4KGJ7",
            "uniprot_id": "A0A0B4KGJ7_DROME",
            "refseq_ac": "NP_001262769",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meckelin",
                    "type": "recommended"
                },
                {
                    "name": "CG15923-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15923",
                    "type": "recommended"
                },
                {
                    "name": "CG15923",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15923",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15923",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KGJ7-1",
            "evidence": [
                {
                    "id": "0070117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070117"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070117"
}