{
    "disease_id": "DOID:0070121",
    "recommended_name": {
        "id": "DOID:0070121",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070121",
        "name": "Meckel syndrome 7",
        "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070121",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070121",
            "name": "MKS7",
            "description": ""
        },
        {
            "id": "DOID:0070121",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070121",
            "name": "Meckel-Gruber syndrome, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "NPHP3-related Meckel-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "Goldston syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "MKS7",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "Meckel syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "Meckel-like syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "NPHP3-related Meckel-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "Meckel syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0009966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "name": "Meckel syndrome, type 7",
            "description": ""
        },
        {
            "id": "MIM:267010",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/267010",
            "name": "Meckel syndrome 7",
            "description": "Meckel syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070121"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070121",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070121",
            "categories": []
        },
        {
            "id": "MONDO:0009966",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009966",
            "categories": []
        },
        {
            "id": "MIM:267010",
            "database": "MIM",
            "url": "https://www.omim.org/entry/267010",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0CI65-1",
            "uniprot_ac": "P0CI65",
            "uniprot_id": "NPHP3_DANRE",
            "refseq_ac": "NP_001189370",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-3",
                    "type": "recommended"
                },
                {
                    "name": "nephrocystin-3",
                    "type": "synonym"
                },
                {
                    "name": "nephronophthisis 3 (adolescent)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nphp3",
                    "type": "recommended"
                },
                {
                    "name": "nphp3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-56l10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CI65-1",
            "evidence": [
                {
                    "id": "0070121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TNH6-1",
            "uniprot_ac": "Q7TNH6",
            "uniprot_id": "NPHP3_MOUSE",
            "refseq_ac": "NP_082997",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-3",
                    "type": "recommended"
                },
                {
                    "name": "nephrocystin-3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp3",
                    "type": "recommended"
                },
                {
                    "name": "3632410F03Rik",
                    "type": "synonym"
                },
                {
                    "name": "C230078J01",
                    "type": "synonym"
                },
                {
                    "name": "D330020E01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa2000",
                    "type": "synonym"
                },
                {
                    "name": "Nphp3",
                    "type": "synonym"
                },
                {
                    "name": "pcy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNH6-1",
            "evidence": [
                {
                    "id": "0070121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z494-1",
            "uniprot_ac": "Q7Z494",
            "uniprot_id": "NPHP3_HUMAN",
            "refseq_ac": "NP_694972",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-3",
                    "type": "recommended"
                },
                {
                    "name": "Meckel syndrome, type 7",
                    "type": "synonym"
                },
                {
                    "name": "cilia and flagella associated protein 31",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-3",
                    "type": "synonym"
                },
                {
                    "name": "nephronophthisis 3 (adolescent)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPHP3",
                    "type": "recommended"
                },
                {
                    "name": "CFAP31",
                    "type": "synonym"
                },
                {
                    "name": "KIAA2000",
                    "type": "synonym"
                },
                {
                    "name": "MKS7",
                    "type": "synonym"
                },
                {
                    "name": "NPH3",
                    "type": "synonym"
                },
                {
                    "name": "NPHP3",
                    "type": "synonym"
                },
                {
                    "name": "RHPD1",
                    "type": "synonym"
                },
                {
                    "name": "RHPD",
                    "type": "synonym"
                },
                {
                    "name": "SLSN3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z494-1",
            "evidence": [
                {
                    "id": "267010",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/267010"
                },
                {
                    "id": "0070121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070121"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1W7-1",
            "uniprot_ac": "D4A1W7",
            "uniprot_id": "D4A1W7_RAT",
            "refseq_ac": "NP_001178811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-3",
                    "type": "recommended"
                },
                {
                    "name": "nephrocystin-3",
                    "type": "synonym"
                },
                {
                    "name": "nephronophthisis 3 (adolescent)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp3",
                    "type": "recommended"
                },
                {
                    "name": "Nphp3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563856",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A1W7-1",
            "evidence": [
                {
                    "id": "0070121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070121"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070121"
}