{
    "disease_id": "DOID:0110991",
    "recommended_name": {
        "id": "DOID:0110991",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110991",
        "name": "Joubert syndrome 22",
        "description": "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "DOID:0110991",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110991",
            "name": "JBTS22",
            "description": ""
        },
        {
            "id": "MONDO:0014297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014297",
            "name": "Joubert syndrome 22",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene."
        },
        {
            "id": "MONDO:0014297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014297",
            "name": "JBTS22",
            "description": ""
        },
        {
            "id": "MONDO:0014297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014297",
            "name": "Joubert syndrome 22",
            "description": ""
        },
        {
            "id": "MONDO:0014297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014297",
            "name": "Joubert syndrome caused by mutation in PDE6D",
            "description": ""
        },
        {
            "id": "MONDO:0014297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014297",
            "name": "Joubert syndrome type 22",
            "description": ""
        },
        {
            "id": "MONDO:0014297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014297",
            "name": "PDE6D Joubert syndrome",
            "description": ""
        },
        {
            "id": "MIM:615665",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615665",
            "name": "Joubert syndrome 22",
            "description": "Joubert syndrome 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110991"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110991",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110991",
            "categories": []
        },
        {
            "id": "MONDO:0014297",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014297",
            "categories": []
        },
        {
            "id": "MIM:615665",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615665",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O55057-1",
            "uniprot_ac": "O55057",
            "uniprot_id": "PDE6D_MOUSE",
            "refseq_ac": "NP_032827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "GMP-PDE delta",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6d",
                    "type": "recommended"
                },
                {
                    "name": "Pde6d",
                    "type": "synonym"
                },
                {
                    "name": "PrBP/delta",
                    "type": "synonym"
                }
            ],
            "record_id": "O55057-1",
            "evidence": [
                {
                    "id": "0110991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43924-1",
            "uniprot_ac": "O43924",
            "uniprot_id": "PDE6D_HUMAN",
            "refseq_ac": "NP_001277947",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "GMP-PDE delta",
                    "type": "synonym"
                },
                {
                    "name": "Protein p17",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6D, cGMP-specific, rod, delta",
                    "type": "synonym"
                },
                {
                    "name": "protein p17",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE6D",
                    "type": "recommended"
                },
                {
                    "name": "JBTS22",
                    "type": "synonym"
                },
                {
                    "name": "PDE6D",
                    "type": "synonym"
                },
                {
                    "name": "PDED",
                    "type": "synonym"
                }
            ],
            "record_id": "O43924-1",
            "evidence": [
                {
                    "id": "615665",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615665"
                },
                {
                    "id": "0110991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZRD3-1",
            "uniprot_ac": "D3ZRD3",
            "uniprot_id": "D3ZRD3_RAT",
            "refseq_ac": "NP_001102276",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "phosphodiesterase 6D, cGMP-specific, rod, delta",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6d",
                    "type": "recommended"
                },
                {
                    "name": "Pde6d",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZRD3-1",
            "evidence": [
                {
                    "id": "0110991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110991"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLJ0-1",
            "uniprot_ac": "Q9VLJ0",
            "uniprot_id": "PDE6D_DROME",
            "refseq_ac": "NP_609246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cGMP 3',5'-cyclic phosphodiesterase subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "CG9296-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmPrBP",
                    "type": "synonym"
                },
                {
                    "name": "PrBP-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prenyl-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PrBP",
                    "type": "recommended"
                },
                {
                    "name": "CG9296",
                    "type": "synonym"
                },
                {
                    "name": "DmPrBP/delta",
                    "type": "synonym"
                },
                {
                    "name": "DmPrBP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9296",
                    "type": "synonym"
                },
                {
                    "name": "PrBP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLJ0-1",
            "evidence": [
                {
                    "id": "0110991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110991"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110991"
}