{
    "disease_id": "DOID:0110726",
    "recommended_name": {
        "id": "DOID:0110726",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110726",
        "name": "neuronal ceroid lipofuscinosis 2",
        "description": "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110726",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110726",
            "name": "CLN2",
            "description": ""
        },
        {
            "id": "DOID:0110726",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110726",
            "name": "neuronal ceroid lipofuscinosis 2 variable age at onset",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "neuronal ceroid lipofuscinosis 2",
            "description": "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "late infantile neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "CLN2",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "TPP1 neuronal ceroid lipofuscinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "ceroid lipofuscinosis, neuronal, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "neuronal ceroid lipofuscinosis caused by mutation in TPP1",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "neuronal ceroid lipofuscinosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "CLN2 disease, juvenile (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "CLN2 disease, late infantile (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0008769",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "name": "ceroid lipofuscinosis, neuronal, 2",
            "description": ""
        },
        {
            "id": "MIM:204500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204500",
            "name": "Ceroid lipofuscinosis, neuronal, 2",
            "description": "Ceroid lipofuscinosis, neuronal, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110726"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110726",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110726",
            "categories": []
        },
        {
            "id": "MONDO:0008769",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008769",
            "categories": []
        },
        {
            "id": "MIM:204500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/204500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W2M8-1",
            "uniprot_ac": "F8W2M8",
            "uniprot_id": "TPP1_DANRE",
            "refseq_ac": "NP_001122270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 2",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tpp1",
                    "type": "recommended"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "cln2",
                    "type": "synonym"
                },
                {
                    "name": "fa01b09",
                    "type": "synonym"
                },
                {
                    "name": "im:7149243",
                    "type": "synonym"
                },
                {
                    "name": "tpp1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa01b09",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W2M8-1",
            "evidence": [
                {
                    "id": "0110726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89023-1",
            "uniprot_ac": "O89023",
            "uniprot_id": "TPP1_MOUSE",
            "refseq_ac": "NP_034036",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal pepstatin-insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin-insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpp1",
                    "type": "recommended"
                },
                {
                    "name": "Cln2",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tpp1",
                    "type": "synonym"
                }
            ],
            "record_id": "O89023-1",
            "evidence": [
                {
                    "id": "0110726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14773-1",
            "uniprot_ac": "O14773",
            "uniprot_id": "TPP1_HUMAN",
            "refseq_ac": "NP_000382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "Cell growth-inhibiting gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal pepstatin-insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "cell growth-inhibiting gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin-insensitive carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPP1",
                    "type": "recommended"
                },
                {
                    "name": "CLN2",
                    "type": "synonym"
                },
                {
                    "name": "GIG1",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "PRO304",
                    "type": "synonym"
                },
                {
                    "name": "SCAR7",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O14773-1",
            "evidence": [
                {
                    "id": "204500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/204500"
                },
                {
                    "id": "0110726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQV6-1",
            "uniprot_ac": "Q9EQV6",
            "uniprot_id": "TPP1_RAT",
            "refseq_ac": "NP_112647",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 2",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpp1",
                    "type": "recommended"
                },
                {
                    "name": "Cln2",
                    "type": "synonym"
                },
                {
                    "name": "Tpp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQV6-1",
            "evidence": [
                {
                    "id": "0110726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09139-1",
            "uniprot_ac": "P09139",
            "uniprot_id": "AGT1_RAT",
            "refseq_ac": "NP_001263635",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--glyoxylate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.44",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.51",
                    "type": "synonym"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanine--glyoxylate and serine--pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "angiotensin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, peroxisomal isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "serine-pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine:pyruvate aminotransferase SPT",
                    "type": "synonym"
                },
                {
                    "name": "serine:pyruvate/alanine:glyoxylate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agxt",
                    "type": "recommended"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "Agt1",
                    "type": "synonym"
                },
                {
                    "name": "Agxt",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Spat",
                    "type": "synonym"
                }
            ],
            "record_id": "P09139-1",
            "evidence": [
                {
                    "id": "0110726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110726"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110726"
}