{
    "disease_id": "DOID:0080181",
    "recommended_name": {
        "id": "DOID:0080181",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080181",
        "name": "PHARC syndrome",
        "description": "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract."
    },
    "synonyms": [
        {
            "id": "DOID:0080181",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080181",
            "name": "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012984",
            "name": "PHARC syndrome",
            "description": "Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life."
        },
        {
            "id": "MONDO:0012984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012984",
            "name": "PHARC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012984",
            "name": "peripheral neuropathy, Fiskerstrand type",
            "description": ""
        },
        {
            "id": "MONDO:0012984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012984",
            "name": "PHARC",
            "description": ""
        },
        {
            "id": "MONDO:0012984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012984",
            "name": "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract",
            "description": ""
        },
        {
            "id": "MIM:612674",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612674",
            "name": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract",
            "description": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080181"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080181",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080181",
            "categories": []
        },
        {
            "id": "MONDO:0012984",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012984",
            "categories": []
        },
        {
            "id": "MIM:612674",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612674",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q08C93-1",
            "uniprot_ac": "Q08C93",
            "uniprot_id": "ABD12_DANRE",
            "refseq_ac": "NP_001070065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Lysophosphatidylserine lipase ABHD12",
                    "type": "recommended"
                },
                {
                    "name": "2-arachidonoylglycerol hydrolase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "Abhydrolase domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "Oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abhd12",
                    "type": "recommended"
                },
                {
                    "name": "abhd12",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-79l10.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153367",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080181",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080181"
                }
            ]
        },
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            "uniprot_ac": "Q99LR1",
            "uniprot_id": "ABD12_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                {
                    "name": "Lysophosphatidylserine lipase ABHD12",
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                },
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                    "name": "2-arachidonoylglycerol hydrolase ABHD12",
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                    "name": "3.1.-.-",
                    "type": "synonym"
                },
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                    "name": "3.1.1.23",
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                },
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                    "name": "Abhydrolase domain-containing protein 12",
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                },
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                    "name": "Monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "Oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 12",
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                },
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                    "name": "lysophosphatidylserine lipase ABHD12 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abhd12",
                    "type": "recommended"
                },
                {
                    "name": "1500011G07Rik",
                    "type": "synonym"
                },
                {
                    "name": "6330583M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abhd12",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N2K0-1",
            "uniprot_ac": "Q8N2K0",
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            "refseq_ac": "NP_001035937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysophosphatidylserine lipase ABHD12",
                    "type": "recommended"
                },
                {
                    "name": "2-arachidonoylglycerol hydrolase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "Abhydrolase domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "Oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "hABHD12",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylserine lipase ABHD12 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABHD12",
                    "type": "recommended"
                },
                {
                    "name": "ABHD12A",
                    "type": "synonym"
                },
                {
                    "name": "ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "BEM46L2",
                    "type": "synonym"
                },
                {
                    "name": "C20orf22",
                    "type": "synonym"
                },
                {
                    "name": "PHARC",
                    "type": "synonym"
                },
                {
                    "name": "dJ965G21.2",
                    "type": "synonym"
                },
                {
                    "name": "hABHD12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N2K0-1",
            "evidence": [
                {
                    "id": "612674",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612674"
                },
                {
                    "id": "0080181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYT7-1",
            "uniprot_ac": "Q6AYT7",
            "uniprot_id": "ABD12_RAT",
            "refseq_ac": "NP_001019485",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysophosphatidylserine lipase ABHD12",
                    "type": "recommended"
                },
                {
                    "name": "2-arachidonoylglycerol hydrolase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "Abhydrolase domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "Oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "abhydrolase domain-containing protein 12",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidylserine lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase ABHD12",
                    "type": "synonym"
                },
                {
                    "name": "oxidized phosphatidylserine lipase ABHD12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abhd12",
                    "type": "recommended"
                },
                {
                    "name": "Abhd12",
                    "type": "synonym"
                }
            ],
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                    "id": "0080181",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080181"
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        },
        {
            "uniprot_canonical_ac": "A1ZBH3-1",
            "uniprot_ac": "A1ZBH3",
            "uniprot_id": "A1ZBH3_DROME",
            "refseq_ac": "NP_725856",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine aminopeptidase S33 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG15111-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15111",
                    "type": "recommended"
                },
                {
                    "name": "CG15111",
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                },
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                    "name": "Dmel\\CG15111",
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                },
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                    "name": "Dmel_CG15111",
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            ],
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                {
                    "id": "0080181",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080181"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080181"
}