{
    "disease_id": "DOID:0080197",
    "recommended_name": {
        "id": "DOID:0080197",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080197",
        "name": "congenital muscular dystrophy with cataracts and intellectual disability",
        "description": "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080197",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080197",
            "name": "congenital muscular dystrophy with cataracts and impaired intellectual development",
            "description": ""
        },
        {
            "id": "MONDO:0024607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024607",
            "name": "congenital muscular dystrophy with cataracts and intellectual disability",
            "description": "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13."
        },
        {
            "id": "MONDO:0024607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024607",
            "name": "MDCCAID",
            "description": ""
        },
        {
            "id": "MIM:617404",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617404",
            "name": "Muscular dystrophy, congenital, with cataracts and impaired intellectual development",
            "description": "Muscular dystrophy, congenital, with cataracts and impaired intellectual development"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080197"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080197",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080197",
            "categories": []
        },
        {
            "id": "MONDO:0024607",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024607",
            "categories": []
        },
        {
            "id": "MIM:617404",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617404",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AHJ9-1",
            "uniprot_ac": "A0A8M3AHJ9",
            "uniprot_id": "A0A8M3AHJ9_DANRE",
            "refseq_ac": "XP_009290059",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase Ka isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase Ka isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "inpp5ka",
                    "type": "recommended"
                },
                {
                    "name": "inpp5ka",
                    "type": "synonym"
                },
                {
                    "name": "inpp5k",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162883",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AHJ9-1",
            "evidence": [
                {
                    "id": "0080197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C5L6-1",
            "uniprot_ac": "Q8C5L6",
            "uniprot_id": "INP5K_MOUSE",
            "refseq_ac": "NP_032942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase K",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "PI-5-phosphatase related",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle and kidney-enriched inositol phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase K",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "putative PI-5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle and kidney enriched inositol polyphosphate phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle and kidney-enriched inositol phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Inpp5k",
                    "type": "recommended"
                },
                {
                    "name": "C62",
                    "type": "synonym"
                },
                {
                    "name": "Inpp5k",
                    "type": "synonym"
                },
                {
                    "name": "Pps",
                    "type": "synonym"
                },
                {
                    "name": "SKIP",
                    "type": "synonym"
                },
                {
                    "name": "Skip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C5L6-1",
            "evidence": [
                {
                    "id": "0080197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BT40-1",
            "uniprot_ac": "Q9BT40",
            "uniprot_id": "INP5K_HUMAN",
            "refseq_ac": "NP_001129114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase K",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle and kidney-enriched inositol phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase K isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle and kidney-enriched inositol phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INPP5K",
                    "type": "recommended"
                },
                {
                    "name": "INPP5K",
                    "type": "synonym"
                },
                {
                    "name": "MDCCAID",
                    "type": "synonym"
                },
                {
                    "name": "PPS",
                    "type": "synonym"
                },
                {
                    "name": "SKIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BT40-1",
            "evidence": [
                {
                    "id": "617404",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617404"
                },
                {
                    "id": "0080197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08227-1",
            "uniprot_ac": "Q08227",
            "uniprot_id": "INP54_YEAST",
            "refseq_ac": "NP_014576",
            "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": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase INP54",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide 5-phosphatase INP54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INP54",
                    "type": "recommended"
                },
                {
                    "name": "INP54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08227-1",
            "evidence": [
                {
                    "id": "0080197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K2Z2-1",
            "uniprot_ac": "A0A0G2K2Z2",
            "uniprot_id": "A0A0G2K2Z2_RAT",
            "refseq_ac": "NP_001013881",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol polyphosphate 5-phosphatase K",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.56",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "C62",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-4,5-bisphosphate 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle and kidney-enriched inositol phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 5-phosphatase K",
                    "type": "synonym"
                },
                {
                    "name": "putative phosphoinositide 5-phosphatase type II",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle and kidney enriched inositol phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Inpp5k",
                    "type": "recommended"
                },
                {
                    "name": "Inpp5k",
                    "type": "synonym"
                },
                {
                    "name": "Skip",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K2Z2-1",
            "evidence": [
                {
                    "id": "0080197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080197"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PHS8-1",
            "uniprot_ac": "M9PHS8",
            "uniprot_id": "M9PHS8_DROME",
            "refseq_ac": "NP_001259623",
            "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 polyphosphate-related phosphatase domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG9784-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9784",
                    "type": "recommended"
                },
                {
                    "name": "CG9784",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9784",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9784",
                    "type": "synonym"
                },
                {
                    "name": "IPP",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9473",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PHS8-1",
            "evidence": [
                {
                    "id": "0080197",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080197"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080197"
}