{
    "disease_id": "DOID:0080272",
    "recommended_name": {
        "id": "DOID:0080272",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080272",
        "name": "nephrotic syndrome type 16",
        "description": "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033280",
            "name": "nephrotic syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0033280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033280",
            "name": "nephrotic syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0033280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033280",
            "name": "nephrotic syndrome, type 16",
            "description": ""
        },
        {
            "id": "MONDO:0033280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033280",
            "name": "NPHS16",
            "description": ""
        },
        {
            "id": "MIM:617783",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617783",
            "name": "Nephrotic syndrome 16",
            "description": "Nephrotic syndrome 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080272"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080272",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080272",
            "categories": []
        },
        {
            "id": "MONDO:0033280",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033280",
            "categories": []
        },
        {
            "id": "MIM:617783",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617783",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WE18-1",
            "uniprot_ac": "X1WE18",
            "uniprot_id": "KANK2_DANRE",
            "refseq_ac": "NP_001292549",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kank2",
                    "type": "recommended"
                },
                {
                    "name": "dZ118J2.12",
                    "type": "synonym"
                },
                {
                    "name": "kank2",
                    "type": "synonym"
                },
                {
                    "name": "si:busm1-118j2.12",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-108m21.1",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WE18-1",
            "evidence": [
                {
                    "id": "0080272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BX02-1",
            "uniprot_ac": "Q8BX02",
            "uniprot_id": "KANK2_MOUSE",
            "refseq_ac": "NP_663586",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain 25",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank2",
                    "type": "recommended"
                },
                {
                    "name": "Ankrd25",
                    "type": "synonym"
                },
                {
                    "name": "Kank2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BX02-1",
            "evidence": [
                {
                    "id": "0080272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63ZY3-1",
            "uniprot_ac": "Q63ZY3",
            "uniprot_id": "KANK2_HUMAN",
            "refseq_ac": "NP_001129663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Matrix-remodeling-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SIP",
                    "type": "synonym"
                },
                {
                    "name": "SRC-1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "SRC-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "SRC1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat domain-containing protein 25",
                    "type": "synonym"
                },
                {
                    "name": "kidney ankyrin repeat-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "matrix-remodeling-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "steroid receptor coactivator interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KANK2",
                    "type": "recommended"
                },
                {
                    "name": "ANKRD25",
                    "type": "synonym"
                },
                {
                    "name": "KANK2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1518",
                    "type": "synonym"
                },
                {
                    "name": "MXRA3",
                    "type": "synonym"
                },
                {
                    "name": "NPHS16",
                    "type": "synonym"
                },
                {
                    "name": "PPKWH",
                    "type": "synonym"
                },
                {
                    "name": "SIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63ZY3-1",
            "evidence": [
                {
                    "id": "617783",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617783"
                },
                {
                    "id": "0080272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZD05-1",
            "uniprot_ac": "D3ZD05",
            "uniprot_id": "KANK2_RAT",
            "refseq_ac": "XP_006242651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "KN motif and ankyrin repeat domain-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank2",
                    "type": "recommended"
                },
                {
                    "name": "Kank2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563532",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZD05-1",
            "evidence": [
                {
                    "id": "0080272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYE0-1",
            "uniprot_ac": "A8DYE0",
            "uniprot_id": "A8DYE0_DROME",
            "refseq_ac": "NP_001097318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10249-PD",
                    "type": "synonym"
                },
                {
                    "name": "Kank, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Kank-PD",
                    "type": "synonym"
                },
                {
                    "name": "kank, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kank",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH19041",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH03482",
                    "type": "synonym"
                },
                {
                    "name": "CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10249",
                    "type": "synonym"
                },
                {
                    "name": "Kank",
                    "type": "synonym"
                },
                {
                    "name": "dKank",
                    "type": "synonym"
                },
                {
                    "name": "kank",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYE0-1",
            "evidence": [
                {
                    "id": "0080272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080272"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080272"
}