{
    "disease_id": "DOID:0110339",
    "recommended_name": {
        "id": "DOID:0110339",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110339",
        "name": "osteogenesis imperfecta type 3",
        "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110339",
            "name": "progressively deforming osteogenesis imperfecta with normal sclera",
            "description": ""
        },
        {
            "id": "DOID:0110339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110339",
            "name": "OI3",
            "description": ""
        },
        {
            "id": "DOID:0110339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110339",
            "name": "osteogenesis imperfecta type III",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta type 3",
            "description": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)."
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "OI type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "OI3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta type III",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "progressive deforming osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "severe osteogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "OI type III",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "osteogenesis imperfecta, progressively deforming with normal sclerae",
            "description": ""
        },
        {
            "id": "MONDO:0009804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "name": "progressively deforming OI",
            "description": ""
        },
        {
            "id": "MIM:259420",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259420",
            "name": "Osteogenesis imperfecta 3",
            "description": "Osteogenesis imperfecta 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110339"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110339",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110339",
            "categories": []
        },
        {
            "id": "MONDO:0009804",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009804",
            "categories": []
        },
        {
            "id": "MIM:259420",
            "database": "MIM",
            "url": "https://www.omim.org/entry/259420",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P11087-1",
            "uniprot_ac": "P11087",
            "uniprot_id": "CO1A1_MOUSE",
            "refseq_ac": "NP_031768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type 1 collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type I, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a1",
                    "type": "recommended"
                },
                {
                    "name": "Col1a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col1a1",
                    "type": "synonym"
                },
                {
                    "name": "Cola-1",
                    "type": "synonym"
                },
                {
                    "name": "Cola1",
                    "type": "synonym"
                },
                {
                    "name": "Mov-13",
                    "type": "synonym"
                },
                {
                    "name": "Mov13",
                    "type": "synonym"
                }
            ],
            "record_id": "P11087-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01149-1",
            "uniprot_ac": "Q01149",
            "uniprot_id": "CO1A2_MOUSE",
            "refseq_ac": "NP_031769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen COL1A2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type I, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a2",
                    "type": "recommended"
                },
                {
                    "name": "Col1a-2",
                    "type": "synonym"
                },
                {
                    "name": "Col1a2",
                    "type": "synonym"
                },
                {
                    "name": "Cola-2",
                    "type": "synonym"
                },
                {
                    "name": "Cola2",
                    "type": "synonym"
                },
                {
                    "name": "oim",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01149-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJY3-1",
            "uniprot_ac": "Q9JJY3",
            "uniprot_id": "NSMA2_MOUSE",
            "refseq_ac": "NP_067466",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingomyelin phosphodiesterase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.12",
                    "type": "synonym"
                },
                {
                    "name": "Neutral sphingomyelinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Neutral sphingomyelinase II",
                    "type": "synonym"
                },
                {
                    "name": "nSMase-2",
                    "type": "synonym"
                },
                {
                    "name": "nSMase2",
                    "type": "synonym"
                },
                {
                    "name": "neutral sphingomyelinase 2",
                    "type": "synonym"
                },
                {
                    "name": "neutral sphingomyelinase II",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smpd3",
                    "type": "recommended"
                },
                {
                    "name": "4631433G07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nsm2",
                    "type": "synonym"
                },
                {
                    "name": "Smpd3",
                    "type": "synonym"
                },
                {
                    "name": "fro",
                    "type": "synonym"
                },
                {
                    "name": "nSMase2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJY3-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02452-1",
            "uniprot_ac": "P02452",
            "uniprot_id": "CO1A1_HUMAN",
            "refseq_ac": "NP_000079",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha1(I) procollagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen Col1-ColIII-1",
                    "type": "synonym"
                },
                {
                    "name": "collagen Col1-ColIII-2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha 1 chain type I",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen of skin, tendon and bone, alpha-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "pro-alpha-1 collagen type 1",
                    "type": "synonym"
                },
                {
                    "name": "type I proalpha 1",
                    "type": "synonym"
                },
                {
                    "name": "type I procollagen alpha 1 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL1A1",
                    "type": "recommended"
                },
                {
                    "name": "CAFYD",
                    "type": "synonym"
                },
                {
                    "name": "COL1A1",
                    "type": "synonym"
                },
                {
                    "name": "EDSARTH1",
                    "type": "synonym"
                },
                {
                    "name": "EDSC",
                    "type": "synonym"
                },
                {
                    "name": "OI1",
                    "type": "synonym"
                },
                {
                    "name": "OI2",
                    "type": "synonym"
                },
                {
                    "name": "OI3",
                    "type": "synonym"
                },
                {
                    "name": "OI4",
                    "type": "synonym"
                }
            ],
            "record_id": "P02452-1",
            "evidence": [
                {
                    "id": "259420",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259420"
                },
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08123-1",
            "uniprot_ac": "P08123",
            "uniprot_id": "CO1A2_HUMAN",
            "refseq_ac": "NP_000080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2 type I procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I) procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I)-collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen I, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen of skin, tendon and bone, alpha-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "type I procollagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL1A2",
                    "type": "recommended"
                },
                {
                    "name": "COL1A2",
                    "type": "synonym"
                },
                {
                    "name": "EDSARTH2",
                    "type": "synonym"
                },
                {
                    "name": "EDSCV",
                    "type": "synonym"
                },
                {
                    "name": "OI4",
                    "type": "synonym"
                }
            ],
            "record_id": "P08123-1",
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                {
                    "id": "259420",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259420"
                },
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02466-1",
            "uniprot_ac": "P02466",
            "uniprot_id": "CO1A2_RAT",
            "refseq_ac": "NP_445808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type I, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a2",
                    "type": "recommended"
                },
                {
                    "name": "Col1a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02466-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02454-1",
            "uniprot_ac": "P02454",
            "uniprot_id": "CO1A1_RAT",
            "refseq_ac": "NP_445756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type 1, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen type I, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type 1, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "type I-alpha 1 collagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col1a1",
                    "type": "recommended"
                },
                {
                    "name": "COLIA1",
                    "type": "synonym"
                },
                {
                    "name": "Col1a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P02454-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35049-1",
            "uniprot_ac": "O35049",
            "uniprot_id": "NSMA2_RAT",
            "refseq_ac": "NP_446057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingomyelin phosphodiesterase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.12",
                    "type": "synonym"
                },
                {
                    "name": "Confluent 3Y1 cell-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Neutral sphingomyelinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Neutral sphingomyelinase II",
                    "type": "synonym"
                },
                {
                    "name": "confluent 3Y1 cell-associated 1",
                    "type": "synonym"
                },
                {
                    "name": "confluent 3Y1 cell-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nSMase-2",
                    "type": "synonym"
                },
                {
                    "name": "nSMase2",
                    "type": "synonym"
                },
                {
                    "name": "neutral sphingomyelin phosphodiesterase 3",
                    "type": "synonym"
                },
                {
                    "name": "neutral sphingomyelinase 2",
                    "type": "synonym"
                },
                {
                    "name": "neutral sphingomyelinase II",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase 3, neutral membrane",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smpd3",
                    "type": "recommended"
                },
                {
                    "name": "Cca1",
                    "type": "synonym"
                },
                {
                    "name": "Smpd3",
                    "type": "synonym"
                },
                {
                    "name": "cca1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35049-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35738-1",
            "uniprot_ac": "P35738",
            "uniprot_id": "ODBB_RAT",
            "refseq_ac": "NP_062140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-beta",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1 beta",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdhb",
                    "type": "recommended"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "Bckdhb",
                    "type": "synonym"
                }
            ],
            "record_id": "P35738-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00972-1",
            "uniprot_ac": "Q00972",
            "uniprot_id": "BCKD_RAT",
            "refseq_ac": "NP_062117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.4",
                    "type": "synonym"
                },
                {
                    "name": "BCKD-kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHKIN",
                    "type": "synonym"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase precursor",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdk",
                    "type": "recommended"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "Bckdk",
                    "type": "synonym"
                },
                {
                    "name": "Kat8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00972-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NY59-1",
            "uniprot_ac": "Q9NY59",
            "uniprot_id": "NSMA2_HUMAN",
            "refseq_ac": "NP_061137",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingomyelin phosphodiesterase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.12",
                    "type": "synonym"
                },
                {
                    "name": "Neutral sphingomyelinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Neutral sphingomyelinase II",
                    "type": "synonym"
                },
                {
                    "name": "nSMase-2",
                    "type": "synonym"
                },
                {
                    "name": "nSMase2",
                    "type": "synonym"
                },
                {
                    "name": "neutral sphingomyelinase 2",
                    "type": "synonym"
                },
                {
                    "name": "neutral sphingomyelinase II",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelin phosphodiesterase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMPD3",
                    "type": "recommended"
                },
                {
                    "name": "NSMASE2",
                    "type": "synonym"
                },
                {
                    "name": "SMPD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NY59-1",
            "evidence": [
                {
                    "id": "0110339",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110339"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110339"
}