{
    "disease_id": "DOID:0070114",
    "recommended_name": {
        "id": "DOID:0070114",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070114",
        "name": "Niemann-Pick disease type C2",
        "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070114",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070114",
            "name": "NPC2",
            "description": ""
        },
        {
            "id": "MONDO:0011873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011873",
            "name": "Niemann-Pick disease, type C2",
            "description": "Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person."
        },
        {
            "id": "MONDO:0011873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011873",
            "name": "NPC2",
            "description": ""
        },
        {
            "id": "MONDO:0011873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011873",
            "name": "Niemann-Pick disease, type C2",
            "description": ""
        },
        {
            "id": "MONDO:0011873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011873",
            "name": "type C2 Niemann-Pick disease",
            "description": ""
        },
        {
            "id": "MONDO:0011873",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011873",
            "name": "Niemann-Pick disease type C2",
            "description": ""
        },
        {
            "id": "MIM:607625",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607625",
            "name": "Niemann-Pick disease C2",
            "description": "Niemann-Pick disease C2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070114"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070114",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070114",
            "categories": []
        },
        {
            "id": "MONDO:0011873",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011873",
            "categories": []
        },
        {
            "id": "MIM:607625",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607625",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DGJ3-1",
            "uniprot_ac": "Q9DGJ3",
            "uniprot_id": "NPC2_DANRE",
            "refseq_ac": "NP_775331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "16.5 kDa secretory protein",
                    "type": "synonym"
                },
                {
                    "name": "Epididymal secretory protein E1",
                    "type": "synonym"
                },
                {
                    "name": "NPC intracellular cholesterol transporter 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NPC intracellular cholesterol transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Niemann Pick type C2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick disease, type C2",
                    "type": "synonym"
                },
                {
                    "name": "epididymal secretory protein E1",
                    "type": "synonym"
                },
                {
                    "name": "niemann Pick type C2 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "npc2.1",
                    "type": "recommended"
                },
                {
                    "name": "npc2",
                    "type": "recommended"
                },
                {
                    "name": "cb292",
                    "type": "synonym"
                },
                {
                    "name": "npc2.1",
                    "type": "synonym"
                },
                {
                    "name": "npc2",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb292",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DGJ3-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0J0-1",
            "uniprot_ac": "Q9Z0J0",
            "uniprot_id": "NPC2_MOUSE",
            "refseq_ac": "NP_075898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Epididymal secretory protein E1",
                    "type": "synonym"
                },
                {
                    "name": "NPC intracellular cholesterol transporter 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Niemann Pick type C2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C2",
                    "type": "synonym"
                },
                {
                    "name": "epididymal secretory protein E1",
                    "type": "synonym"
                },
                {
                    "name": "mE1",
                    "type": "synonym"
                },
                {
                    "name": "niemann Pick type C2 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2",
                    "type": "recommended"
                },
                {
                    "name": "2700012J19Rik",
                    "type": "synonym"
                },
                {
                    "name": "HE1",
                    "type": "synonym"
                },
                {
                    "name": "Npc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0J0-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61916-1",
            "uniprot_ac": "P61916",
            "uniprot_id": "NPC2_HUMAN",
            "refseq_ac": "NP_006423",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Epididymal secretory protein E1",
                    "type": "synonym"
                },
                {
                    "name": "He1",
                    "type": "synonym"
                },
                {
                    "name": "Human epididymis-specific protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NPC intracellular cholesterol transporter 2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick disease type C2 protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymal protein 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "human epididymis-specific protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tissue-specific secretory protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPC2",
                    "type": "recommended"
                },
                {
                    "name": "EDDM1",
                    "type": "synonym"
                },
                {
                    "name": "HE1",
                    "type": "synonym"
                },
                {
                    "name": "NPC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P61916-1",
            "evidence": [
                {
                    "id": "0011873",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011873"
                },
                {
                    "id": "607625",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607625"
                },
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12408-1",
            "uniprot_ac": "Q12408",
            "uniprot_id": "NPC2_YEAST",
            "refseq_ac": "NP_010237",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylglycerol/phosphatidylinositol transfer protein",
                    "type": "recommended"
                },
                {
                    "name": "NPC2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PG/PI-TP",
                    "type": "synonym"
                },
                {
                    "name": "sterol transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPC2",
                    "type": "recommended"
                },
                {
                    "name": "D2699",
                    "type": "synonym"
                },
                {
                    "name": "NPC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12408-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FJQ3-1",
            "uniprot_ac": "F7FJQ3",
            "uniprot_id": "F7FJQ3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Epididymal secretory protein E1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FJQ3-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFN7-1",
            "uniprot_ac": "Q9VFN7",
            "uniprot_id": "Q9VFN7_DROME",
            "refseq_ac": "NP_650331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3153-PB",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2b, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2b, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Npc2b-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2b",
                    "type": "recommended"
                },
                {
                    "name": "CG3153",
                    "type": "synonym"
                },
                {
                    "name": "CT10556",
                    "type": "synonym"
                },
                {
                    "name": "DmML2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3153",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3153",
                    "type": "synonym"
                },
                {
                    "name": "NPC2b",
                    "type": "synonym"
                },
                {
                    "name": "NPC2",
                    "type": "synonym"
                },
                {
                    "name": "Npc2b",
                    "type": "synonym"
                },
                {
                    "name": "npc2b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFN7-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH32-1",
            "uniprot_ac": "Q9VH32",
            "uniprot_id": "Q9VH32_DROME",
            "refseq_ac": "NP_649975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12813-PA",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2d",
                    "type": "synonym"
                },
                {
                    "name": "Npc2d-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2d",
                    "type": "recommended"
                },
                {
                    "name": "CG12813",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12813",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12813",
                    "type": "synonym"
                },
                {
                    "name": "Npc2d",
                    "type": "synonym"
                },
                {
                    "name": "npc2d",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH32-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA41-1",
            "uniprot_ac": "Q9VA41",
            "uniprot_id": "Q9VA41_DROME",
            "refseq_ac": "NP_001247376",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11315-PC",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2h, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2h, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Npc2h-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2h",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH26608",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH04252",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH68460",
                    "type": "synonym"
                },
                {
                    "name": "CG11315",
                    "type": "synonym"
                },
                {
                    "name": "DmML1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11315",
                    "type": "synonym"
                },
                {
                    "name": "Npc2h",
                    "type": "synonym"
                },
                {
                    "name": "npc2h",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA41-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH31-1",
            "uniprot_ac": "Q9VH31",
            "uniprot_id": "Q9VH31_DROME",
            "refseq_ac": "NP_649976",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3934-PA",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2c",
                    "type": "synonym"
                },
                {
                    "name": "Npc2c-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2c",
                    "type": "recommended"
                },
                {
                    "name": "CG3934",
                    "type": "synonym"
                },
                {
                    "name": "DmML5A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3934",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3934",
                    "type": "synonym"
                },
                {
                    "name": "Npc2c",
                    "type": "synonym"
                },
                {
                    "name": "npc2c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH31-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA42-1",
            "uniprot_ac": "Q9VA42",
            "uniprot_id": "Q9VA42_DROME",
            "refseq_ac": "NP_001247375",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11314-PB",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2g, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2g, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Npc2g-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2g",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE56164",
                    "type": "synonym"
                },
                {
                    "name": "CG11314",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11314",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11314",
                    "type": "synonym"
                },
                {
                    "name": "Npc2g",
                    "type": "synonym"
                },
                {
                    "name": "npc2g",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA42-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ62-1",
            "uniprot_ac": "Q9VQ62",
            "uniprot_id": "NPC2_DROME",
            "refseq_ac": "NP_608637",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 2 homolog a",
                    "type": "recommended"
                },
                {
                    "name": "CG7291-PA",
                    "type": "synonym"
                },
                {
                    "name": "Niemann Pick type C2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2a",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-2",
                    "type": "synonym"
                },
                {
                    "name": "Npc2a-PA",
                    "type": "synonym"
                },
                {
                    "name": "epididymal secretory protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc2a",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH08376",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH22047",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH53228",
                    "type": "synonym"
                },
                {
                    "name": "CG7291",
                    "type": "synonym"
                },
                {
                    "name": "CT22505",
                    "type": "synonym"
                },
                {
                    "name": "DmML3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7291",
                    "type": "synonym"
                },
                {
                    "name": "NPC2",
                    "type": "synonym"
                },
                {
                    "name": "Npc2a",
                    "type": "synonym"
                },
                {
                    "name": "dnpc2a",
                    "type": "synonym"
                },
                {
                    "name": "npc2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ62-1",
            "evidence": [
                {
                    "id": "0070114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070114"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070114"
}