{
    "disease_id": "DOID:0070112",
    "recommended_name": {
        "id": "DOID:0070112",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070112",
        "name": "Niemann-Pick disease type B",
        "description": "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4."
    },
    "synonyms": [
        {
            "id": "MONDO:0011871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011871",
            "name": "Niemann-Pick disease type B",
            "description": "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea"
        },
        {
            "id": "MONDO:0011871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011871",
            "name": "type B Niemann-Pick disease",
            "description": ""
        },
        {
            "id": "MONDO:0011871",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011871",
            "name": "Niemann Pick disease type B",
            "description": ""
        },
        {
            "id": "MIM:607616",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607616",
            "name": "Niemann-Pick disease B",
            "description": "Niemann-Pick disease B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070112",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070112",
            "categories": []
        },
        {
            "id": "MONDO:0011871",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011871",
            "categories": []
        },
        {
            "id": "MIM:607616",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607616",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P933-1",
            "uniprot_ac": "A0A8M1P933",
            "uniprot_id": "A0A8M1P933_DANRE",
            "refseq_ac": "NP_001313465",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingomyelin phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.12",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase 1, acid lysosomal",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smpd1",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-287a12.10",
                    "type": "synonym"
                },
                {
                    "name": "smpd1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P933-1",
            "evidence": [
                {
                    "id": "0070112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04519-1",
            "uniprot_ac": "Q04519",
            "uniprot_id": "ASM_MOUSE",
            "refseq_ac": "NP_035551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingomyelin phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.12",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.3",
                    "type": "synonym"
                },
                {
                    "name": "ASMase",
                    "type": "synonym"
                },
                {
                    "name": "Acid sphingomyelinase",
                    "type": "synonym"
                },
                {
                    "name": "acid sphingomyelinase",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smpd1",
                    "type": "recommended"
                },
                {
                    "name": "A-SMase",
                    "type": "synonym"
                },
                {
                    "name": "ASM",
                    "type": "synonym"
                },
                {
                    "name": "Asm",
                    "type": "synonym"
                },
                {
                    "name": "Smpd1",
                    "type": "synonym"
                },
                {
                    "name": "Zn-SMase",
                    "type": "synonym"
                },
                {
                    "name": "aSMase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04519-1",
            "evidence": [
                {
                    "id": "0070112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17405-1",
            "uniprot_ac": "P17405",
            "uniprot_id": "ASM_HUMAN",
            "refseq_ac": "NP_000534",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingomyelin phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.12",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.3",
                    "type": "synonym"
                },
                {
                    "name": "Acid sphingomyelinase",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type A/B",
                    "type": "synonym"
                },
                {
                    "name": "aSMase",
                    "type": "synonym"
                },
                {
                    "name": "acid sphingomyelinase",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase 1, acid lysosomal",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMPD1",
                    "type": "recommended"
                },
                {
                    "name": "ASMASE",
                    "type": "synonym"
                },
                {
                    "name": "ASM",
                    "type": "synonym"
                },
                {
                    "name": "NPD",
                    "type": "synonym"
                },
                {
                    "name": "SMPD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17405-1",
            "evidence": [
                {
                    "id": "0011871",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011871"
                },
                {
                    "id": "607616",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607616"
                },
                {
                    "id": "0070112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7ETC0-1",
            "uniprot_ac": "F7ETC0",
            "uniprot_id": "F7ETC0_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": "Sphingomyelin phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smpd1",
                    "type": "recommended"
                }
            ],
            "record_id": "F7ETC0-1",
            "evidence": [
                {
                    "id": "0070112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070112"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070112"
}