{
    "disease_id": "DOID:0110997",
    "recommended_name": {
        "id": "DOID:0110997",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110997",
        "name": "Joubert syndrome 28",
        "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110997",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110997",
            "name": "JBTS28",
            "description": ""
        },
        {
            "id": "MONDO:0014928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014928",
            "name": "Joubert syndrome 28",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene."
        },
        {
            "id": "MONDO:0014928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014928",
            "name": "JBTS28",
            "description": ""
        },
        {
            "id": "MONDO:0014928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014928",
            "name": "Joubert syndrome 28",
            "description": ""
        },
        {
            "id": "MONDO:0014928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014928",
            "name": "Joubert syndrome caused by mutation in MKS1",
            "description": ""
        },
        {
            "id": "MONDO:0014928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014928",
            "name": "Joubert syndrome type 28",
            "description": ""
        },
        {
            "id": "MONDO:0014928",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014928",
            "name": "MKS1 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:617121",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617121",
            "name": "Joubert syndrome 28",
            "description": "Joubert syndrome 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110997"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110997",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110997",
            "categories": []
        },
        {
            "id": "MONDO:0014928",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014928",
            "categories": []
        },
        {
            "id": "MIM:617121",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617121",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A3QK09-1",
            "uniprot_ac": "A3QK09",
            "uniprot_id": "A3QK09_DANRE",
            "refseq_ac": "NP_001070841",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meckel syndrome, type 1",
                    "type": "synonym"
                },
                {
                    "name": "Tectonic-like complex member MKS1",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-like complex member MKS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mks1",
                    "type": "recommended"
                },
                {
                    "name": "fc54h05",
                    "type": "synonym"
                },
                {
                    "name": "mks1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-189h5.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc54h05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153149",
                    "type": "synonym"
                }
            ],
            "record_id": "A3QK09-1",
            "evidence": [
                {
                    "id": "0110997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SW45-1",
            "uniprot_ac": "Q5SW45",
            "uniprot_id": "MKS1_MOUSE",
            "refseq_ac": "NP_001034773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-like complex member MKS1",
                    "type": "recommended"
                },
                {
                    "name": "Meckel syndrome type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Meckel syndrome, type 1",
                    "type": "synonym"
                },
                {
                    "name": "meckel syndrome type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-like complex member MKS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mks1",
                    "type": "recommended"
                },
                {
                    "name": "B8d3",
                    "type": "synonym"
                },
                {
                    "name": "Mks1",
                    "type": "synonym"
                },
                {
                    "name": "avc6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SW45-1",
            "evidence": [
                {
                    "id": "0110997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NXB0-1",
            "uniprot_ac": "Q9NXB0",
            "uniprot_id": "MKS1_HUMAN",
            "refseq_ac": "NP_001308197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-like complex member MKS1",
                    "type": "recommended"
                },
                {
                    "name": "Meckel syndrome type 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "POC12 centriolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "meckel syndrome type 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-like complex member MKS1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-like complex member MKS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MKS1",
                    "type": "recommended"
                },
                {
                    "name": "BBS13",
                    "type": "synonym"
                },
                {
                    "name": "JBTS28",
                    "type": "synonym"
                },
                {
                    "name": "MES",
                    "type": "synonym"
                },
                {
                    "name": "MKS1",
                    "type": "synonym"
                },
                {
                    "name": "MKS",
                    "type": "synonym"
                },
                {
                    "name": "POC12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NXB0-1",
            "evidence": [
                {
                    "id": "617121",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617121"
                },
                {
                    "id": "0110997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499Q5-1",
            "uniprot_ac": "Q499Q5",
            "uniprot_id": "MKS1_RAT",
            "refseq_ac": "NP_001030089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-like complex member MKS1",
                    "type": "recommended"
                },
                {
                    "name": "Meckel syndrome type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Meckel syndrome, type 1",
                    "type": "synonym"
                },
                {
                    "name": "meckel syndrome type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "tectonic-like complex member MKS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mks1",
                    "type": "recommended"
                },
                {
                    "name": "Mks1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499Q5-1",
            "evidence": [
                {
                    "id": "0110997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYM3-1",
            "uniprot_ac": "Q9VYM3",
            "uniprot_id": "MKS1_DROME",
            "refseq_ac": "NP_572804",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tectonic-like complex member Mks1",
                    "type": "recommended"
                },
                {
                    "name": "CG15730-PA",
                    "type": "synonym"
                },
                {
                    "name": "Meckel syndrome type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mks1-PA",
                    "type": "synonym"
                },
                {
                    "name": "meckel syndrome, type 1 homologue",
                    "type": "synonym"
                },
                {
                    "name": "meckel syndrome, type 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mks1",
                    "type": "recommended"
                },
                {
                    "name": "B9d3",
                    "type": "synonym"
                },
                {
                    "name": "CG15730",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15730",
                    "type": "synonym"
                },
                {
                    "name": "MKS1",
                    "type": "synonym"
                },
                {
                    "name": "Mks1",
                    "type": "synonym"
                },
                {
                    "name": "dMks1",
                    "type": "synonym"
                },
                {
                    "name": "mks1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYM3-1",
            "evidence": [
                {
                    "id": "0110997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110997"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110997"
}