{
    "disease_id": "DOID:0110731",
    "recommended_name": {
        "id": "DOID:0110731",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110731",
        "name": "neuronal ceroid lipofuscinosis 3",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110731",
            "name": "Batten disease",
            "description": ""
        },
        {
            "id": "DOID:0110731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110731",
            "name": "CLN3",
            "description": ""
        },
        {
            "id": "DOID:0110731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110731",
            "name": "juvenile neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "neuronal ceroid lipofuscinosis 3",
            "description": "A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "CLN3",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "CLN3 neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "Juvenile CLN3 Disease",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "ceroid lipofuscinosis, neuronal, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "neuronal ceroid lipofuscinosis 3",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in CLN3",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "neuronal ceroid lipofuscinosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "CLN3 disease, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "Spielmeyer Sjogren disease",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "Vogt Spielmeyer disease",
            "description": ""
        },
        {
            "id": "MONDO:0008767",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "name": "ceroid lipofuscinosis, neuronal, 3",
            "description": ""
        },
        {
            "id": "MIM:204200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204200",
            "name": "Ceroid lipofuscinosis, neuronal, 3",
            "description": "Ceroid lipofuscinosis, neuronal, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110731"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110731",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110731",
            "categories": []
        },
        {
            "id": "MONDO:0008767",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008767",
            "categories": []
        },
        {
            "id": "MIM:204200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/204200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PE31-1",
            "uniprot_ac": "A0A8M1PE31",
            "uniprot_id": "A0A8M1PE31_DANRE",
            "refseq_ac": "NP_957415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosome maturation protein SBDS",
                    "type": "recommended"
                },
                {
                    "name": "SBDS, ribosome assembly guanine nucleotide exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "ribosome maturation protein SBDS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sbds",
                    "type": "recommended"
                },
                {
                    "name": "sbds",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56700",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PE31-1",
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                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9Q887-1",
            "uniprot_ac": "A0A8M9Q887",
            "uniprot_id": "A0A8M9Q887_DANRE",
            "refseq_ac": "XP_001923503",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein",
                    "type": "recommended"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clcn3",
                    "type": "recommended"
                },
                {
                    "name": "clcn3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q887-1",
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                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1R8J6-1",
            "uniprot_ac": "F1R8J6",
            "uniprot_id": "F1R8J6_DANRE",
            "refseq_ac": "XP_005159823",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Palmitoyl-protein thioesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.22",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-protein hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-protein thioesterase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppt1",
                    "type": "recommended"
                },
                {
                    "name": "ppt1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj17f04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63969",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R8J6-1",
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                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61124-1",
            "uniprot_ac": "Q61124",
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            "refseq_ac": "NP_001139783",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Battenin",
                    "type": "recommended"
                },
                {
                    "name": "Protein CLN3",
                    "type": "synonym"
                },
                {
                    "name": "battenin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "battenin",
                    "type": "synonym"
                },
                {
                    "name": "ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cln3",
                    "type": "recommended"
                },
                {
                    "name": "Cln3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88531-1",
            "uniprot_ac": "O88531",
            "uniprot_id": "PPT1_MOUSE",
            "refseq_ac": "NP_032943",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Palmitoyl-protein thioesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.22",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "PPT-1",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-protein hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-protein hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-protein thioesterase 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppt1",
                    "type": "recommended"
                },
                {
                    "name": "9530043G02Rik",
                    "type": "synonym"
                },
                {
                    "name": "CLN1",
                    "type": "synonym"
                },
                {
                    "name": "Cln1",
                    "type": "synonym"
                },
                {
                    "name": "D4Ertd184e",
                    "type": "synonym"
                },
                {
                    "name": "INCL",
                    "type": "synonym"
                },
                {
                    "name": "PPT",
                    "type": "synonym"
                },
                {
                    "name": "Ppt1",
                    "type": "synonym"
                },
                {
                    "name": "Ppt",
                    "type": "synonym"
                }
            ],
            "record_id": "O88531-1",
            "evidence": [
                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51791-1",
            "uniprot_ac": "P51791",
            "uniprot_id": "CLCN3_MOUSE",
            "refseq_ac": "NP_776299",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 3 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "clC-3",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn3",
                    "type": "recommended"
                },
                {
                    "name": "Clc3",
                    "type": "synonym"
                },
                {
                    "name": "Clcn3",
                    "type": "synonym"
                }
            ],
            "record_id": "P51791-1",
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                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35454-1",
            "uniprot_ac": "O35454",
            "uniprot_id": "CLCN6_MOUSE",
            "refseq_ac": "NP_036059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ClC-6",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "clC-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn6",
                    "type": "recommended"
                },
                {
                    "name": "Clc6",
                    "type": "synonym"
                },
                {
                    "name": "Clcn6",
                    "type": "synonym"
                }
            ],
            "record_id": "O35454-1",
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                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70122-1",
            "uniprot_ac": "P70122",
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            "refseq_ac": "NP_075737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosome maturation protein SBDS",
                    "type": "recommended"
                },
                {
                    "name": "Protein 22A3",
                    "type": "synonym"
                },
                {
                    "name": "SBDS ribosome assembly guanine nucleotide exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "Shwachman-Bodian-Diamond syndrome homolog",
                    "type": "synonym"
                },
                {
                    "name": "Shwachman-Bodian-Diamond syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein 22A3",
                    "type": "synonym"
                },
                {
                    "name": "ribosome maturation protein SBDS",
                    "type": "synonym"
                },
                {
                    "name": "shwachman-Bodian-Diamond syndrome protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sbds",
                    "type": "recommended"
                },
                {
                    "name": "4733401P19Rik",
                    "type": "synonym"
                },
                {
                    "name": "CGI-97",
                    "type": "synonym"
                },
                {
                    "name": "SDS",
                    "type": "synonym"
                },
                {
                    "name": "Sbds",
                    "type": "synonym"
                }
            ],
            "record_id": "P70122-1",
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                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13286-1",
            "uniprot_ac": "Q13286",
            "uniprot_id": "CLN3_HUMAN",
            "refseq_ac": "NP_000077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Battenin",
                    "type": "recommended"
                },
                {
                    "name": "Batten disease protein",
                    "type": "synonym"
                },
                {
                    "name": "CLN3, battenin",
                    "type": "synonym"
                },
                {
                    "name": "Protein CLN3",
                    "type": "synonym"
                },
                {
                    "name": "batten disease protein",
                    "type": "synonym"
                },
                {
                    "name": "battenin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "battenin",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLN3",
                    "type": "recommended"
                },
                {
                    "name": "BTN1",
                    "type": "synonym"
                },
                {
                    "name": "BTS",
                    "type": "synonym"
                },
                {
                    "name": "CLN3",
                    "type": "synonym"
                },
                {
                    "name": "JNCL",
                    "type": "synonym"
                },
                {
                    "name": "RP101",
                    "type": "synonym"
                },
                {
                    "name": "SLC29B1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "204200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/204200"
                },
                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47040-1",
            "uniprot_ac": "P47040",
            "uniprot_id": "BTN1_YEAST",
            "refseq_ac": "NP_012476",
            "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": "Protein BTN1",
                    "type": "recommended"
                },
                {
                    "name": "amino acid transporter YHC3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YHC3",
                    "type": "recommended"
                },
                {
                    "name": "BTN1",
                    "type": "synonym"
                },
                {
                    "name": "J1139",
                    "type": "synonym"
                },
                {
                    "name": "YHC3",
                    "type": "synonym"
                }
            ],
            "record_id": "P47040-1",
            "evidence": [
                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07953-1",
            "uniprot_ac": "Q07953",
            "uniprot_id": "SDO1_YEAST",
            "refseq_ac": "NP_013122",
            "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": "Ribosome maturation protein SDO1",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide exchange factor SDO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SDO1",
                    "type": "recommended"
                },
                {
                    "name": "SDO1",
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                {
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                },
                {
                    "name": "SDO1",
                    "type": "synonym"
                },
                {
                    "name": "SDS",
                    "type": "synonym"
                },
                {
                    "name": "SWDS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3A5-1",
            "evidence": [
                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51797-1",
            "uniprot_ac": "P51797",
            "uniprot_id": "CLCN6_HUMAN",
            "refseq_ac": "NP_001243888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "ClC-6",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride transport protein 6",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN6",
                    "type": "recommended"
                },
                {
                    "name": "CLC-6",
                    "type": "synonym"
                },
                {
                    "name": "CLCN6",
                    "type": "synonym"
                },
                {
                    "name": "CONRIBA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0046",
                    "type": "synonym"
                }
            ],
            "record_id": "P51797-1",
            "evidence": [
                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51790-1",
            "uniprot_ac": "P51790",
            "uniprot_id": "CLCN3_HUMAN",
            "refseq_ac": "NP_001230301",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 3",
                    "type": "synonym"
                },
                {
                    "name": "chloride transporter ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 3",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN3",
                    "type": "recommended"
                },
                {
                    "name": "CLC3",
                    "type": "synonym"
                },
                {
                    "name": "CLCN3",
                    "type": "synonym"
                },
                {
                    "name": "ClC-3",
                    "type": "synonym"
                },
                {
                    "name": "NEDHYBA",
                    "type": "synonym"
                },
                {
                    "name": "NEDSBA",
                    "type": "synonym"
                }
            ],
            "record_id": "P51790-1",
            "evidence": [
                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50897-1",
            "uniprot_ac": "P50897",
            "uniprot_id": "PPT1_HUMAN",
            "refseq_ac": "NP_000301",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Palmitoyl-protein thioesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.2.22",
                    "type": "synonym"
                },
                {
                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "PPT-1",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-protein hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-palmitoyl-palmitoyl-protein thioesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-protein hydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-protein thioesterase 1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPT1",
                    "type": "recommended"
                },
                {
                    "name": "CLN1",
                    "type": "synonym"
                },
                {
                    "name": "INCL",
                    "type": "synonym"
                },
                {
                    "name": "PPT1",
                    "type": "synonym"
                },
                {
                    "name": "PPT",
                    "type": "synonym"
                }
            ],
            "record_id": "P50897-1",
            "evidence": [
                {
                    "id": "0110731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110731"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110731"
}