{
    "disease_id": "DOID:0110980",
    "recommended_name": {
        "id": "DOID:0110980",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110980",
        "name": "Joubert syndrome 1",
        "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110980",
            "name": "CORS1",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110980",
            "name": "CPD4",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110980",
            "name": "JBTS1",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110980",
            "name": "cerebellooculorenal syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0110980",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110980",
            "name": "cerebelloparenchymal disorder IV",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome 1",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene."
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "CORS1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "CPD4",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "INPP5E Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "JBTS1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome caused by mutation in INPP5E",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "Joubert syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "name": "cerebellooculorenal syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:213300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213300",
            "name": "Joubert syndrome 1",
            "description": "Joubert syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110980"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110980",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110980",
            "categories": []
        },
        {
            "id": "MONDO:0008944",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008944",
            "categories": []
        },
        {
            "id": "MIM:213300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/213300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NEC2-1",
            "uniprot_ac": "A0A8M1NEC2",
            "uniprot_id": "A0A8M1NEC2_DANRE",
            "refseq_ac": "NP_001096089",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "72 kDa inositol polyphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate-5-phosphatase E",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "inpp5e",
                    "type": "recommended"
                },
                {
                    "name": "Innpp5e",
                    "type": "synonym"
                },
                {
                    "name": "im:7152772",
                    "type": "synonym"
                },
                {
                    "name": "inpp5e",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165612",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NEC2-1",
            "evidence": [
                {
                    "id": "0110980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JII1-1",
            "uniprot_ac": "Q9JII1",
            "uniprot_id": "INP5E_MOUSE",
            "refseq_ac": "NP_001277366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "72 kDa inositol polyphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate-5-phosphatase E",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate-5-phosphatase, 72 kDa",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV isoform b",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Inpp5e",
                    "type": "recommended"
                },
                {
                    "name": "1200002L24Rik",
                    "type": "synonym"
                },
                {
                    "name": "72kDa",
                    "type": "synonym"
                },
                {
                    "name": "Inpp5e",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0123",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JII1-1",
            "evidence": [
                {
                    "id": "0110980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NRR6-1",
            "uniprot_ac": "Q9NRR6",
            "uniprot_id": "INP5E_HUMAN",
            "refseq_ac": "NP_001305431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "72 kDa inositol polyphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate-5-phosphatase E",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INPP5E",
                    "type": "recommended"
                },
                {
                    "name": "CORS1",
                    "type": "synonym"
                },
                {
                    "name": "CPD4",
                    "type": "synonym"
                },
                {
                    "name": "INPP5E",
                    "type": "synonym"
                },
                {
                    "name": "JBTS1",
                    "type": "synonym"
                },
                {
                    "name": "MORMS",
                    "type": "synonym"
                },
                {
                    "name": "PPI5PIV",
                    "type": "synonym"
                },
                {
                    "name": "pharbin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NRR6-1",
            "evidence": [
                {
                    "id": "213300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/213300"
                },
                {
                    "id": "0110980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVR1-1",
            "uniprot_ac": "Q9WVR1",
            "uniprot_id": "INP5E_RAT",
            "refseq_ac": "NP_446084",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "5-phosphatase that induces arborization",
                    "type": "synonym"
                },
                {
                    "name": "72 kDa inositol polyphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate-5-phosphatase E",
                    "type": "synonym"
                },
                {
                    "name": "Pharbin",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "pharbin",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Inpp5e",
                    "type": "recommended"
                },
                {
                    "name": "Inpp5e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVR1-1",
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                {
                    "id": "0110980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTW2-1",
            "uniprot_ac": "Q9VTW2",
            "uniprot_id": "INP5E_DROME",
            "refseq_ac": "NP_001261753",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase E",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "CG10426-PB",
                    "type": "synonym"
                },
                {
                    "name": "INPP5E-PB",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol polyphosphate 5-phosphatase type IV",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase E, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "pharbin-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INPP5E",
                    "type": "recommended"
                },
                {
                    "name": "CG10426",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10426",
                    "type": "synonym"
                },
                {
                    "name": "INPP5E",
                    "type": "synonym"
                },
                {
                    "name": "INPPE5",
                    "type": "synonym"
                },
                {
                    "name": "IPP",
                    "type": "synonym"
                },
                {
                    "name": "Inpp5e",
                    "type": "synonym"
                },
                {
                    "name": "dInpp5e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTW2-1",
            "evidence": [
                {
                    "id": "0110980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110980"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110980"
}