{
    "disease_id": "DOID:0110999",
    "recommended_name": {
        "id": "DOID:0110999",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110999",
        "name": "Joubert syndrome 4",
        "description": "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110999",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110999",
            "name": "JBTS4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome with renal defect",
            "description": "A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "JBTS4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "JS-R",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "name": "Joubert syndrome with renal anomalies",
            "description": ""
        },
        {
            "id": "MIM:609583",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609583",
            "name": "Joubert syndrome 4",
            "description": "Joubert syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110999"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110999",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110999",
            "categories": []
        },
        {
            "id": "MONDO:0012308",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012308",
            "categories": []
        },
        {
            "id": "MIM:609583",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609583",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QA20-1",
            "uniprot_ac": "A0A8M9QA20",
            "uniprot_id": "A0A8M9QA20_DANRE",
            "refseq_ac": "XP_021334094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nphp4",
                    "type": "recommended"
                },
                {
                    "name": "nphp4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QA20-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QX08-1",
            "uniprot_ac": "F1QX08",
            "uniprot_id": "F1QX08_DANRE",
            "refseq_ac": "NP_001306918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "ZAhi-1",
                    "type": "synonym"
                },
                {
                    "name": "jouberin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ahi1",
                    "type": "recommended"
                },
                {
                    "name": "ahi1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QX08-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59240-1",
            "uniprot_ac": "P59240",
            "uniprot_id": "NPHP4_MOUSE",
            "refseq_ac": "NP_700473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-4",
                    "type": "recommended"
                },
                {
                    "name": "Nephroretinin",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-4",
                    "type": "synonym"
                },
                {
                    "name": "nephroretinin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp4",
                    "type": "recommended"
                },
                {
                    "name": "4930564O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nphp4",
                    "type": "synonym"
                },
                {
                    "name": "nmf192",
                    "type": "synonym"
                }
            ],
            "record_id": "P59240-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QY53-1",
            "uniprot_ac": "Q9QY53",
            "uniprot_id": "NPHP1_MOUSE",
            "refseq_ac": "NP_058598",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-1",
                    "type": "recommended"
                },
                {
                    "name": "nephrocystin-1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp1",
                    "type": "recommended"
                },
                {
                    "name": "Nph1",
                    "type": "synonym"
                },
                {
                    "name": "Nphp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY53-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3E5-1",
            "uniprot_ac": "Q8K3E5",
            "uniprot_id": "AHI1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "Abelson helper integration site 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahi1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8K3E5-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15259-1",
            "uniprot_ac": "O15259",
            "uniprot_id": "NPHP1_HUMAN",
            "refseq_ac": "NP_001121650",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-1",
                    "type": "recommended"
                },
                {
                    "name": "Juvenile nephronophthisis 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "juvenile nephronophthisis 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "nephronophthisis 1 (juvenile)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPHP1",
                    "type": "recommended"
                },
                {
                    "name": "JBTS4",
                    "type": "synonym"
                },
                {
                    "name": "NPH1",
                    "type": "synonym"
                },
                {
                    "name": "NPHP1",
                    "type": "synonym"
                },
                {
                    "name": "SLSN1",
                    "type": "synonym"
                }
            ],
            "record_id": "O15259-1",
            "evidence": [
                {
                    "id": "609583",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609583"
                },
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9Y6-1",
            "uniprot_ac": "G3V9Y6",
            "uniprot_id": "G3V9Y6_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": "Nephrocystin 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp4",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V9Y6-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LIM9-1",
            "uniprot_ac": "A0ABK0LIM9",
            "uniprot_id": "A0ABK0LIM9_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LIM9-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DTM3-1",
            "uniprot_ac": "Q6DTM3",
            "uniprot_id": "AHI1_RAT",
            "refseq_ac": "NP_001002277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "Abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "jouberin-like",
                    "type": "synonym"
                },
                {
                    "name": "jouberin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahi1",
                    "type": "recommended"
                },
                {
                    "name": "Ahi-1",
                    "type": "synonym"
                },
                {
                    "name": "Ahi1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DTM3-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N157-1",
            "uniprot_ac": "Q8N157",
            "uniprot_id": "AHI1_HUMAN",
            "refseq_ac": "NP_001128302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Jouberin",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "Abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "abelson helper integration site 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "contatins SH3 and WD40 domains",
                    "type": "synonym"
                },
                {
                    "name": "jouberin isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AHI1",
                    "type": "recommended"
                },
                {
                    "name": "AHI-1",
                    "type": "synonym"
                },
                {
                    "name": "AHI1",
                    "type": "synonym"
                },
                {
                    "name": "JBTS3",
                    "type": "synonym"
                },
                {
                    "name": "ORF1",
                    "type": "synonym"
                },
                {
                    "name": "dJ71N10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N157-1",
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                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75161-1",
            "uniprot_ac": "O75161",
            "uniprot_id": "NPHP4_HUMAN",
            "refseq_ac": "NP_001278522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-4",
                    "type": "recommended"
                },
                {
                    "name": "Nephroretinin",
                    "type": "synonym"
                },
                {
                    "name": "POC10 centriolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "nephroretinin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPHP4",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0673",
                    "type": "synonym"
                },
                {
                    "name": "NPHP4",
                    "type": "synonym"
                },
                {
                    "name": "POC10",
                    "type": "synonym"
                },
                {
                    "name": "SLSN4",
                    "type": "synonym"
                }
            ],
            "record_id": "O75161-1",
            "evidence": [
                {
                    "id": "0110999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110999"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110999"
}