{
    "disease_id": "DOID:0111117",
    "recommended_name": {
        "id": "DOID:0111117",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111117",
        "name": "nephronophthisis-like nephropathy 1",
        "description": "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111117",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111117",
            "name": "NPHPL1",
            "description": ""
        },
        {
            "id": "MONDO:0013163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "name": "nephronophthisis-like nephropathy 1",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene."
        },
        {
            "id": "MONDO:0013163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "name": "NPHP-XPNPEP3",
            "description": ""
        },
        {
            "id": "MONDO:0013163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "name": "NPHPL1",
            "description": ""
        },
        {
            "id": "MONDO:0013163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "name": "XPNPEP3 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "name": "nephronophthisis (disease) caused by mutation in XPNPEP3",
            "description": ""
        },
        {
            "id": "MONDO:0013163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "name": "nephronophthisis-like nephropathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0013163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "name": "nephronophthisis-like nephropathy type 1",
            "description": ""
        },
        {
            "id": "MIM:613159",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613159",
            "name": "Nephronophthisis-like nephropathy 1",
            "description": "Nephronophthisis-like nephropathy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111117"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111117",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111117",
            "categories": []
        },
        {
            "id": "MONDO:0013163",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013163",
            "categories": []
        },
        {
            "id": "MIM:613159",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613159",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B7ZMP1-1",
            "uniprot_ac": "B7ZMP1",
            "uniprot_id": "XPP3_MOUSE",
            "refseq_ac": "NP_001334004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xaa-Pro aminopeptidase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.11.9",
                    "type": "synonym"
                },
                {
                    "name": "APP3",
                    "type": "synonym"
                },
                {
                    "name": "Aminopeptidase P3",
                    "type": "synonym"
                },
                {
                    "name": "X-Pro aminopeptidase 3",
                    "type": "synonym"
                },
                {
                    "name": "aminopeptidase P3",
                    "type": "synonym"
                },
                {
                    "name": "probable Xaa-Pro aminopeptidase 3",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro aminopeptidase 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro aminopeptidase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xpnpep3",
                    "type": "recommended"
                },
                {
                    "name": "APP3",
                    "type": "synonym"
                },
                {
                    "name": "E430012M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Xpnpep3",
                    "type": "synonym"
                }
            ],
            "record_id": "B7ZMP1-1",
            "evidence": [
                {
                    "id": "0111117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQH7-1",
            "uniprot_ac": "Q9NQH7",
            "uniprot_id": "XPP3_HUMAN",
            "refseq_ac": "NP_071381",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xaa-Pro aminopeptidase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.11.9",
                    "type": "synonym"
                },
                {
                    "name": "APP3",
                    "type": "synonym"
                },
                {
                    "name": "Aminopeptidase P3",
                    "type": "synonym"
                },
                {
                    "name": "Intermediate Cleaving Peptidase 55",
                    "type": "synonym"
                },
                {
                    "name": "X-Pro aminopeptidase 3",
                    "type": "synonym"
                },
                {
                    "name": "X-prolyl aminopeptidase 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable Xaa-Pro aminopeptidase 3",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro aminopeptidase 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro aminopeptidase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "XPNPEP3",
                    "type": "recommended"
                },
                {
                    "name": "APP3",
                    "type": "synonym"
                },
                {
                    "name": "ICP55",
                    "type": "synonym"
                },
                {
                    "name": "NPHPL1",
                    "type": "synonym"
                },
                {
                    "name": "XPNPEP3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQH7-1",
            "evidence": [
                {
                    "id": "613159",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613159"
                },
                {
                    "id": "0111117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40051-1",
            "uniprot_ac": "P40051",
            "uniprot_id": "ICP55_YEAST",
            "refseq_ac": "NP_011001",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermediate cleaving peptidase 55",
                    "type": "recommended"
                },
                {
                    "name": "3.4.11.26",
                    "type": "synonym"
                },
                {
                    "name": "Intermediate cleaving peptidase of 55 kDa",
                    "type": "synonym"
                },
                {
                    "name": "aminopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ICP55",
                    "type": "recommended"
                },
                {
                    "name": "ICP55",
                    "type": "synonym"
                }
            ],
            "record_id": "P40051-1",
            "evidence": [
                {
                    "id": "0111117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5DEQ3-1",
            "uniprot_ac": "B5DEQ3",
            "uniprot_id": "XPP3_RAT",
            "refseq_ac": "NP_001124054",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Xaa-Pro aminopeptidase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.11.9",
                    "type": "synonym"
                },
                {
                    "name": "APP3",
                    "type": "synonym"
                },
                {
                    "name": "Aminopeptidase P3",
                    "type": "synonym"
                },
                {
                    "name": "X-Pro aminopeptidase 3",
                    "type": "synonym"
                },
                {
                    "name": "X-prolyl aminopeptidase 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "aminopeptidase P3",
                    "type": "synonym"
                },
                {
                    "name": "probable Xaa-Pro aminopeptidase 3",
                    "type": "synonym"
                },
                {
                    "name": "xaa-Pro aminopeptidase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Xpnpep3",
                    "type": "recommended"
                },
                {
                    "name": "APP3",
                    "type": "synonym"
                },
                {
                    "name": "Xpnpep3",
                    "type": "synonym"
                }
            ],
            "record_id": "B5DEQ3-1",
            "evidence": [
                {
                    "id": "0111117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPS7-1",
            "uniprot_ac": "Q8IPS7",
            "uniprot_id": "Q8IPS7_DROME",
            "refseq_ac": "NP_730740",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminopeptidase P N-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG32454-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG32454",
                    "type": "recommended"
                },
                {
                    "name": "CG11367",
                    "type": "synonym"
                },
                {
                    "name": "CG32454",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32454",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32454",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPS7-1",
            "evidence": [
                {
                    "id": "0111117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W5W7-1",
            "uniprot_ac": "Q9W5W7",
            "uniprot_id": "Q9W5W7_DROME",
            "refseq_ac": "NP_608376",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminopeptidase P N-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG9581-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9581",
                    "type": "recommended"
                },
                {
                    "name": "CG9581",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9581",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9581",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W5W7-1",
            "evidence": [
                {
                    "id": "0111117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111117"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111117"
}