{
    "disease_id": "DOID:0111124",
    "recommended_name": {
        "id": "DOID:0111124",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111124",
        "name": "nephronophthisis 16",
        "description": "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111124",
            "name": "NPHP16",
            "description": ""
        },
        {
            "id": "MONDO:0014158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014158",
            "name": "nephronophthisis 16",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene."
        },
        {
            "id": "MONDO:0014158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014158",
            "name": "ANKS6 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014158",
            "name": "NPHP16",
            "description": ""
        },
        {
            "id": "MONDO:0014158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014158",
            "name": "nephronophthisis (disease) caused by mutation in ANKS6",
            "description": ""
        },
        {
            "id": "MONDO:0014158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014158",
            "name": "nephronophthisis 16",
            "description": ""
        },
        {
            "id": "MONDO:0014158",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014158",
            "name": "nephronophthisis type 16",
            "description": ""
        },
        {
            "id": "MIM:615382",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615382",
            "name": "Nephronophthisis 16",
            "description": "Nephronophthisis 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111124"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111124",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111124",
            "categories": []
        },
        {
            "id": "MONDO:0014158",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014158",
            "categories": []
        },
        {
            "id": "MIM:615382",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615382",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5XJ13-1",
            "uniprot_ac": "Q5XJ13",
            "uniprot_id": "ANKS6_DANRE",
            "refseq_ac": "NP_001005928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and SAM domain-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 14",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "SamCystin",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 14",
                    "type": "synonym"
                },
                {
                    "name": "samCystin",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anks6",
                    "type": "recommended"
                },
                {
                    "name": "anks6",
                    "type": "synonym"
                },
                {
                    "name": "samd6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85964",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XJ13-1",
            "evidence": [
                {
                    "id": "0111124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6GQX6-1",
            "uniprot_ac": "Q6GQX6",
            "uniprot_id": "ANKS6_MOUSE",
            "refseq_ac": "NP_001343355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and SAM domain-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "SamCystin",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and SAM domain-containing protein 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain 14",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain containing 6",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Anks6",
                    "type": "recommended"
                },
                {
                    "name": "2210417J20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ankrd14",
                    "type": "synonym"
                },
                {
                    "name": "Anks6",
                    "type": "synonym"
                },
                {
                    "name": "Gm635",
                    "type": "synonym"
                },
                {
                    "name": "SamCystin",
                    "type": "synonym"
                },
                {
                    "name": "Samd6",
                    "type": "synonym"
                },
                {
                    "name": "b2b1801.1Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6GQX6-1",
            "evidence": [
                {
                    "id": "0111124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68DC2-1",
            "uniprot_ac": "Q68DC2",
            "uniprot_id": "ANKS6_HUMAN",
            "refseq_ac": "NP_775822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and SAM domain-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 14",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "SamCystin",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain 14",
                    "type": "synonym"
                },
                {
                    "name": "samCystin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANKS6",
                    "type": "recommended"
                },
                {
                    "name": "ANKRD14",
                    "type": "synonym"
                },
                {
                    "name": "ANKS6",
                    "type": "synonym"
                },
                {
                    "name": "NPHP16",
                    "type": "synonym"
                },
                {
                    "name": "PKDR1",
                    "type": "synonym"
                },
                {
                    "name": "SAMD6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68DC2-1",
            "evidence": [
                {
                    "id": "615382",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615382"
                },
                {
                    "id": "0111124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C0T2-1",
            "uniprot_ac": "P0C0T2",
            "uniprot_id": "ANKS6_RAT",
            "refseq_ac": "NP_001015028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and SAM domain-containing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Polycystic kidney disease protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "SamCystin",
                    "type": "synonym"
                },
                {
                    "name": "Sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and SAM domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney disease protein 1",
                    "type": "synonym"
                },
                {
                    "name": "samcystin",
                    "type": "synonym"
                },
                {
                    "name": "sterile alpha motif domain-containing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Anks6",
                    "type": "recommended"
                },
                {
                    "name": "Anks6",
                    "type": "synonym"
                },
                {
                    "name": "Pkdr1",
                    "type": "synonym"
                },
                {
                    "name": "Samd6",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C0T2-1",
            "evidence": [
                {
                    "id": "0111124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54851-1",
            "uniprot_ac": "P54851",
            "uniprot_id": "EMP2_HUMAN",
            "refseq_ac": "NP_001415",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein XMP",
                    "type": "synonym"
                },
                {
                    "name": "epithelial membrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMP2",
                    "type": "recommended"
                },
                {
                    "name": "EMP2",
                    "type": "synonym"
                },
                {
                    "name": "XMP",
                    "type": "synonym"
                }
            ],
            "record_id": "P54851-1",
            "evidence": [
                {
                    "id": "0111124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111124"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111124"
}