{
    "disease_id": "DOID:0111638",
    "recommended_name": {
        "id": "DOID:0111638",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111638",
        "name": "autosomal recessive nonsyndromic deafness 100",
        "description": "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111638",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111638",
            "name": "DFNB100",
            "description": ""
        },
        {
            "id": "DOID:0111638",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111638",
            "name": "autosomal recessive deafness 100",
            "description": ""
        },
        {
            "id": "MONDO:0032740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032740",
            "name": "hearing loss, autosomal recessive 100",
            "description": ""
        },
        {
            "id": "MONDO:0032740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032740",
            "name": "DFNB100",
            "description": ""
        },
        {
            "id": "MONDO:0032740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032740",
            "name": "deafness, autosomal recessive 100",
            "description": ""
        },
        {
            "id": "MIM:618422",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618422",
            "name": "Deafness, autosomal recessive, 100",
            "description": "Deafness, autosomal recessive, 100"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111638"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111638",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111638",
            "categories": []
        },
        {
            "id": "MONDO:0032740",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032740",
            "categories": []
        },
        {
            "id": "MIM:618422",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618422",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3BCT9-1",
            "uniprot_ac": "A0A8M3BCT9",
            "uniprot_id": "A0A8M3BCT9_DANRE",
            "refseq_ac": "XP_009303388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.24",
                    "type": "synonym"
                },
                {
                    "name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppip5k2",
                    "type": "recommended"
                },
                {
                    "name": "ppip5k2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3BCT9-1",
            "evidence": [
                {
                    "id": "0111638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZQB6-1",
            "uniprot_ac": "Q6ZQB6",
            "uniprot_id": "VIP2_MOUSE",
            "refseq_ac": "NP_776121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.24",
                    "type": "synonym"
                },
                {
                    "name": "Diphosphoinositol pentakisphosphate kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Histidine acid phosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "InsP6 and PP-IP5 kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "VIP1 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "histidine acid phosphatase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "histidine acid phosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 11",
                    "type": "synonym"
                },
                {
                    "name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "insP6 and PP-IP5 kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "mmVIP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppip5k2",
                    "type": "recommended"
                },
                {
                    "name": "Cfap160",
                    "type": "synonym"
                },
                {
                    "name": "D330021B20",
                    "type": "synonym"
                },
                {
                    "name": "Hisppd1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0433",
                    "type": "synonym"
                },
                {
                    "name": "Ppip5k2",
                    "type": "synonym"
                },
                {
                    "name": "Vip2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0433",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZQB6-1",
            "evidence": [
                {
                    "id": "0111638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43314-1",
            "uniprot_ac": "O43314",
            "uniprot_id": "VIP2_HUMAN",
            "refseq_ac": "NP_001263206",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.24",
                    "type": "synonym"
                },
                {
                    "name": "Diphosphoinositol pentakisphosphate kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Histidine acid phosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "InsP6 and PP-IP5 kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "VIP1 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 100",
                    "type": "synonym"
                },
                {
                    "name": "histidine acid phosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hsVIP2",
                    "type": "synonym"
                },
                {
                    "name": "inositol heptaphosphate kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "insP6 and PP-IP5 kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPIP5K2",
                    "type": "recommended"
                },
                {
                    "name": "CFAP160",
                    "type": "synonym"
                },
                {
                    "name": "DFNB100",
                    "type": "synonym"
                },
                {
                    "name": "HISPPD1",
                    "type": "synonym"
                },
                {
                    "name": "IP7K2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0433",
                    "type": "synonym"
                },
                {
                    "name": "PPIP5K2",
                    "type": "synonym"
                },
                {
                    "name": "VIP2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43314-1",
            "evidence": [
                {
                    "id": "618422",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618422"
                },
                {
                    "id": "0111638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06685-1",
            "uniprot_ac": "Q06685",
            "uniprot_id": "VIP1_YEAST",
            "refseq_ac": "NP_013514",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.24",
                    "type": "synonym"
                },
                {
                    "name": "InsP6 and PP-IP5 kinase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate kinase VIP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VIP1",
                    "type": "recommended"
                },
                {
                    "name": "VIP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06685-1",
            "evidence": [
                {
                    "id": "0111638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LQY2-1",
            "uniprot_ac": "A0ABK0LQY2",
            "uniprot_id": "A0ABK0LQY2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppip5k2",
                    "type": "recommended"
                },
                {
                    "name": "LOC501194",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LQY2-1",
            "evidence": [
                {
                    "id": "0111638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR59-1",
            "uniprot_ac": "Q9VR59",
            "uniprot_id": "VIP1_DROME",
            "refseq_ac": "NP_001097041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.24",
                    "type": "synonym"
                },
                {
                    "name": "CG14616-PK",
                    "type": "synonym"
                },
                {
                    "name": "InsP6 and PP-IP5 kinase",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0196-PK",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0196, isoform K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(1)G0196",
                    "type": "recommended"
                },
                {
                    "name": "CG14616",
                    "type": "synonym"
                },
                {
                    "name": "CG32502",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14616",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14616",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0196",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR59-1",
            "evidence": [
                {
                    "id": "0111638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111638"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111638"
}