{
    "disease_id": "DOID:0111127",
    "recommended_name": {
        "id": "DOID:0111127",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111127",
        "name": "nephronophthisis 20",
        "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15."
    },
    "synonyms": [
        {
            "id": "DOID:0111127",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111127",
            "name": "NPHP20",
            "description": ""
        },
        {
            "id": "MONDO:0014997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014997",
            "name": "nephronophthisis 20",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene."
        },
        {
            "id": "MONDO:0014997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014997",
            "name": "MAPKBP1 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014997",
            "name": "NPHP20",
            "description": ""
        },
        {
            "id": "MONDO:0014997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014997",
            "name": "nephronophthisis (disease) caused by mutation in MAPKBP1",
            "description": ""
        },
        {
            "id": "MONDO:0014997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014997",
            "name": "nephronophthisis 20",
            "description": ""
        },
        {
            "id": "MONDO:0014997",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014997",
            "name": "nephronophthisis type 20",
            "description": ""
        },
        {
            "id": "MIM:617271",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617271",
            "name": "Nephronophthisis 20",
            "description": "Nephronophthisis 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111127"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111127",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111127",
            "categories": []
        },
        {
            "id": "MONDO:0014997",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014997",
            "categories": []
        },
        {
            "id": "MIM:617271",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617271",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HQS2-1",
            "uniprot_ac": "A0AC58HQS2",
            "uniprot_id": "A0AC58HQS2_DANRE",
            "refseq_ac": "XP_073784297",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase-binding protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase-binding protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mapkbp1",
                    "type": "recommended"
                },
                {
                    "name": "mapkbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HQS2-1",
            "evidence": [
                {
                    "id": "0111127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NS57-1",
            "uniprot_ac": "Q6NS57",
            "uniprot_id": "MABP1_MOUSE",
            "refseq_ac": "NP_036071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "JNK-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "JNKBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Jun N-terminal kinase binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase-binding protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mapkbp1",
                    "type": "recommended"
                },
                {
                    "name": "2810483F24Rik",
                    "type": "synonym"
                },
                {
                    "name": "JNKBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Jnkbp1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0596",
                    "type": "synonym"
                },
                {
                    "name": "Mapkbp1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0596",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NS57-1",
            "evidence": [
                {
                    "id": "0111127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60336-1",
            "uniprot_ac": "O60336",
            "uniprot_id": "MABP1_HUMAN",
            "refseq_ac": "NP_001122080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "JNK-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "JNKBP-1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase-binding protein 1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAPKBP1",
                    "type": "recommended"
                },
                {
                    "name": "JNKBP-1",
                    "type": "synonym"
                },
                {
                    "name": "JNKBP1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0596",
                    "type": "synonym"
                },
                {
                    "name": "MAPKBP1",
                    "type": "synonym"
                },
                {
                    "name": "NPHP20",
                    "type": "synonym"
                }
            ],
            "record_id": "O60336-1",
            "evidence": [
                {
                    "id": "617271",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617271"
                },
                {
                    "id": "0111127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZSY0-1",
            "uniprot_ac": "D3ZSY0",
            "uniprot_id": "D3ZSY0_RAT",
            "refseq_ac": "NP_001102059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "JNK-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase-binding protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mapkbp1",
                    "type": "recommended"
                },
                {
                    "name": "Mapkbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZSY0-1",
            "evidence": [
                {
                    "id": "0111127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111127"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PB01-1",
            "uniprot_ac": "M9PB01",
            "uniprot_id": "M9PB01_DROME",
            "refseq_ac": "NP_001259886",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7337-PG",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain 62, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Wdr62-PG",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr62",
                    "type": "recommended"
                },
                {
                    "name": "CG7337",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7337",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7337",
                    "type": "synonym"
                },
                {
                    "name": "Q0E8U7_DROME",
                    "type": "synonym"
                },
                {
                    "name": "WDR62",
                    "type": "synonym"
                },
                {
                    "name": "Wdr62",
                    "type": "synonym"
                },
                {
                    "name": "wdr62",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PB01-1",
            "evidence": [
                {
                    "id": "0111127",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111127"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111127"
}