{
    "disease_id": "DOID:0110732",
    "recommended_name": {
        "id": "DOID:0110732",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110732",
        "name": "neuronal ceroid lipofuscinosis 11",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q."
    },
    "synonyms": [
        {
            "id": "DOID:0110732",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110732",
            "name": "CLN11",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "neuronal ceroid lipofuscinosis 11",
            "description": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene."
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "CLN11",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "GRN neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "Grn neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "ceroid lipofuscinosis, neuronal, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in GRN",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in Grn",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "neuronal ceroid lipofuscinosis type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013866",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "name": "ceroid lipofuscinosis, neuronal, 11",
            "description": ""
        },
        {
            "id": "MIM:614706",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614706",
            "name": "Ceroid lipofuscinosis, neuronal, 11",
            "description": "Ceroid lipofuscinosis, neuronal, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110732"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110732",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110732",
            "categories": []
        },
        {
            "id": "MONDO:0013866",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013866",
            "categories": []
        },
        {
            "id": "MIM:614706",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614706",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B8B0-1",
            "uniprot_ac": "A0A8M3B8B0",
            "uniprot_id": "A0A8M3B8B0_DANRE",
            "refseq_ac": "XP_009297752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Granulin a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "granulin a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grna",
                    "type": "recommended"
                },
                {
                    "name": "grna",
                    "type": "synonym"
                },
                {
                    "name": "grn",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu337",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb11g12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj18f05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B8B0-1",
            "evidence": [
                {
                    "id": "0110732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IPJ6-1",
            "uniprot_ac": "A0AC58IPJ6",
            "uniprot_id": "A0AC58IPJ6_DANRE",
            "refseq_ac": "XP_073796162",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Granulin b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "granulin b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grnb",
                    "type": "recommended"
                },
                {
                    "name": "fj14b08",
                    "type": "synonym"
                },
                {
                    "name": "grnb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj14b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111858",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IPJ6-1",
            "evidence": [
                {
                    "id": "0110732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28798-1",
            "uniprot_ac": "P28798",
            "uniprot_id": "GRN_MOUSE",
            "refseq_ac": "NP_032201",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progranulin",
                    "type": "recommended"
                },
                {
                    "name": "Acrogranin",
                    "type": "synonym"
                },
                {
                    "name": "Epithelin/granulin precursor",
                    "type": "synonym"
                },
                {
                    "name": "GP88",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein 88",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein of 88 Kda",
                    "type": "synonym"
                },
                {
                    "name": "PC cell-derived growth factor",
                    "type": "synonym"
                },
                {
                    "name": "PCDGF",
                    "type": "synonym"
                },
                {
                    "name": "PEPI",
                    "type": "synonym"
                },
                {
                    "name": "PGRN",
                    "type": "synonym"
                },
                {
                    "name": "Proepithelin",
                    "type": "synonym"
                },
                {
                    "name": "acrogranin",
                    "type": "synonym"
                },
                {
                    "name": "acrogranulin",
                    "type": "synonym"
                },
                {
                    "name": "epithelin/granulin",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 88",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein of 88 Kda",
                    "type": "synonym"
                },
                {
                    "name": "granulins",
                    "type": "synonym"
                },
                {
                    "name": "proepithelin",
                    "type": "synonym"
                },
                {
                    "name": "progranulin precursor",
                    "type": "synonym"
                },
                {
                    "name": "progranulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grn",
                    "type": "recommended"
                },
                {
                    "name": "GP88",
                    "type": "synonym"
                },
                {
                    "name": "Grn",
                    "type": "synonym"
                },
                {
                    "name": "PCDGF",
                    "type": "synonym"
                },
                {
                    "name": "PEPI",
                    "type": "synonym"
                },
                {
                    "name": "Pgrn",
                    "type": "synonym"
                },
                {
                    "name": "epithelin",
                    "type": "synonym"
                }
            ],
            "record_id": "P28798-1",
            "evidence": [
                {
                    "id": "0110732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28799-1",
            "uniprot_ac": "P28799",
            "uniprot_id": "GRN_HUMAN",
            "refseq_ac": "NP_002078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progranulin",
                    "type": "recommended"
                },
                {
                    "name": "Acrogranin",
                    "type": "synonym"
                },
                {
                    "name": "Epithelin precursor",
                    "type": "synonym"
                },
                {
                    "name": "Epithelin-1",
                    "type": "synonym"
                },
                {
                    "name": "Epithelin-2",
                    "type": "synonym"
                },
                {
                    "name": "GP88",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein 88",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein of 88 Kda",
                    "type": "synonym"
                },
                {
                    "name": "Granulin A",
                    "type": "synonym"
                },
                {
                    "name": "Granulin B",
                    "type": "synonym"
                },
                {
                    "name": "Granulin C",
                    "type": "synonym"
                },
                {
                    "name": "Granulin D",
                    "type": "synonym"
                },
                {
                    "name": "Granulin E",
                    "type": "synonym"
                },
                {
                    "name": "Granulin F",
                    "type": "synonym"
                },
                {
                    "name": "Granulin G",
                    "type": "synonym"
                },
                {
                    "name": "Granulin precursor",
                    "type": "synonym"
                },
                {
                    "name": "PC cell-derived growth factor",
                    "type": "synonym"
                },
                {
                    "name": "PCDGF",
                    "type": "synonym"
                },
                {
                    "name": "PEPI",
                    "type": "synonym"
                },
                {
                    "name": "PGRN",
                    "type": "synonym"
                },
                {
                    "name": "Proepithelin",
                    "type": "synonym"
                },
                {
                    "name": "acrogranin",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein 88",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein of 88 Kda",
                    "type": "synonym"
                },
                {
                    "name": "granulin-epithelin",
                    "type": "synonym"
                },
                {
                    "name": "granulins",
                    "type": "synonym"
                },
                {
                    "name": "proepithelin",
                    "type": "synonym"
                },
                {
                    "name": "progranulin precursor",
                    "type": "synonym"
                },
                {
                    "name": "progranulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRN",
                    "type": "recommended"
                },
                {
                    "name": "CLN11",
                    "type": "synonym"
                },
                {
                    "name": "FTD2",
                    "type": "synonym"
                },
                {
                    "name": "GEP",
                    "type": "synonym"
                },
                {
                    "name": "GP88",
                    "type": "synonym"
                },
                {
                    "name": "GRN",
                    "type": "synonym"
                },
                {
                    "name": "PCDGF",
                    "type": "synonym"
                },
                {
                    "name": "PEPI",
                    "type": "synonym"
                },
                {
                    "name": "PGRN",
                    "type": "synonym"
                }
            ],
            "record_id": "P28799-1",
            "evidence": [
                {
                    "id": "614706",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614706"
                },
                {
                    "id": "0110732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110732"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23785-1",
            "uniprot_ac": "P23785",
            "uniprot_id": "GRN_RAT",
            "refseq_ac": "NP_058809",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Progranulin",
                    "type": "recommended"
                },
                {
                    "name": "Acrogranin",
                    "type": "synonym"
                },
                {
                    "name": "Epithelin precursor",
                    "type": "synonym"
                },
                {
                    "name": "Epithelin-1",
                    "type": "synonym"
                },
                {
                    "name": "Epithelin-2",
                    "type": "synonym"
                },
                {
                    "name": "Granulin A",
                    "type": "synonym"
                },
                {
                    "name": "Granulin B",
                    "type": "synonym"
                },
                {
                    "name": "Granulin C",
                    "type": "synonym"
                },
                {
                    "name": "Granulin D",
                    "type": "synonym"
                },
                {
                    "name": "Granulin E",
                    "type": "synonym"
                },
                {
                    "name": "Granulin F",
                    "type": "synonym"
                },
                {
                    "name": "Granulin G",
                    "type": "synonym"
                },
                {
                    "name": "Granulin precursor",
                    "type": "synonym"
                },
                {
                    "name": "PEPI",
                    "type": "synonym"
                },
                {
                    "name": "PGRN",
                    "type": "synonym"
                },
                {
                    "name": "Proepithelin",
                    "type": "synonym"
                },
                {
                    "name": "acrogranin",
                    "type": "synonym"
                },
                {
                    "name": "epithelin",
                    "type": "synonym"
                },
                {
                    "name": "granulins",
                    "type": "synonym"
                },
                {
                    "name": "proepithelin",
                    "type": "synonym"
                },
                {
                    "name": "progranulin isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "progranulin",
                    "type": "synonym"
                },
                {
                    "name": "prostate cancer cell-derived growth factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grn",
                    "type": "recommended"
                },
                {
                    "name": "Grn",
                    "type": "synonym"
                },
                {
                    "name": "PEPI",
                    "type": "synonym"
                },
                {
                    "name": "PGRN",
                    "type": "synonym"
                }
            ],
            "record_id": "P23785-1",
            "evidence": [
                {
                    "id": "0110732",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110732"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110732"
}