{
    "disease_id": "DOID:0081237",
    "recommended_name": {
        "id": "DOID:0081237",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081237",
        "name": "acromesomelic dysplasia 3",
        "description": "An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081237",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081237",
            "name": "Demirhan-type acromesomelic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012274",
            "name": "acromesomelic dysplasia 3",
            "description": ""
        },
        {
            "id": "MONDO:0012274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012274",
            "name": "AMDD",
            "description": ""
        },
        {
            "id": "MONDO:0012274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012274",
            "name": "acromesomelic dysplasia 3",
            "description": ""
        },
        {
            "id": "MONDO:0012274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012274",
            "name": "acromesomelic dysplasia, Demirhan type",
            "description": ""
        },
        {
            "id": "MONDO:0012274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012274",
            "name": "chondrodysplasia, acromesomelic, with or without genital anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0012274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012274",
            "name": "chondrodysplasia acromesomelic with genital anomalies",
            "description": ""
        },
        {
            "id": "MIM:609441",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609441",
            "name": "Acromesomelic dysplasia 3",
            "description": "Acromesomelic dysplasia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081237"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081237",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081237",
            "categories": []
        },
        {
            "id": "MONDO:0012274",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012274",
            "categories": []
        },
        {
            "id": "MIM:609441",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609441",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VMT1-1",
            "uniprot_ac": "Q9VMT1",
            "uniprot_id": "Q9VMT1_DROME",
            "refseq_ac": "NP_787990",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein serine/threonine kinase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Activin-A-receptor-25D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BMP receptor kinase 25D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG14026-PC",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DPP receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Thick-veins",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Thick-vein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "slater",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "thick veins",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "thickveins, isoform C",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "thickveins",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "thickvein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tkv-PC",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tkv",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Atkv",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Atkv",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Atr25D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Atr25D",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG14026",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG14026",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14026",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14026",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14026",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dtfr",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dtfr",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "STK-A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "STK-A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TKV1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TKV1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TKV",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TKV",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TkvA",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TkvA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tkv",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Tkv",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dtfr",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dtfr",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "kv",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "kv",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04415",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04415",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(2)25Da",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "l(2)25Da",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "str",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "str",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "thv",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "thv",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tkv-RC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tkv1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tkv1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tkva",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tkva",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "tkv",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00238-1",
            "uniprot_ac": "O00238",
            "uniprot_id": "BMR1B_HUMAN",
            "refseq_ac": "NP_001194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-1B",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1B receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1B receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1B isoform b precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine receptor kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMPR1B",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALK-6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ALK6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "AMD3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "AMDD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BDA1D",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BDA2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BMPR1B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CDw293",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081237"
                },
                {
                    "id": "609441",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PJN6-1",
            "uniprot_ac": "A0A8M9PJN6",
            "uniprot_id": "A0A8M9PJN6_DANRE",
            "refseq_ac": "XP_021331677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein kinase receptor",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "2.7.11.30",
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                },
                {
                    "name": "bone morphogenetic protein receptor type-1B isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmpr1ba",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "BMPR-IB",
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                },
                {
                    "name": "BMPR-IB",
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                },
                {
                    "name": "BR1b",
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                },
                {
                    "name": "BR1b",
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                },
                {
                    "name": "alk6tr",
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                    "type": "synonym"
                },
                {
                    "name": "alk6tr",
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                    "type": "synonym"
                },
                {
                    "name": "bmpr-IB",
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                },
                {
                    "name": "bmpr1ba",
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                    "type": "synonym"
                },
                {
                    "name": "bmpr1b",
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                },
                {
                    "name": "bmpr1b",
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                },
                {
                    "name": "zALK-6",
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                },
                {
                    "name": "zALK-6",
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                },
                {
                    "name": "zgc:92220",
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                    "type": "synonym"
                },
                {
                    "name": "zgc:92220",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C0L3D6-1",
            "uniprot_ac": "C0L3D6",
            "uniprot_id": "C0L3D6_DANRE",
            "refseq_ac": "NP_001139468",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
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                    "name": "Serine/threonine-protein kinase receptor",
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                },
                {
                    "name": "2.7.11.30",
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                },
                {
                    "name": "bone morphogenetic protein receptor type IB,b",
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                },
                {
                    "name": "bone morphogenetic protein receptor, type 1bb",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IBb isoform 1 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmpr1bb",
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                },
                {
                    "name": "alk6b",
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                },
                {
                    "name": "alk6b",
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                },
                {
                    "name": "bmpr1bb",
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                },
                {
                    "name": "zgc:172219",
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                },
                {
                    "name": "zgc:172219",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36898-1",
            "uniprot_ac": "P36898",
            "uniprot_id": "BMR1B_MOUSE",
            "refseq_ac": "NP_001264145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-1B",
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                },
                {
                    "name": "2.7.11.30",
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                },
                {
                    "name": "ALK-6",
                    "resource": "UniProtKB",
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                },
                {
                    "name": "Activin receptor-like kinase 6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1B receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1B receptor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1B",
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                    "type": "synonym"
                },
                {
                    "name": "SKR6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R6",
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                },
                {
                    "name": "activin receptor-like kinase 6",
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                },
                {
                    "name": "bone morphogenetic protein receptor type-1B isoform a precursor",
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                },
                {
                    "name": "serine/threonine-protein kinase receptor R6",
                    "resource": "RefSeq",
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                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr1b",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ALK-6",
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                    "type": "synonym"
                },
                {
                    "name": "Acvrlk6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Acvrlk6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Alk6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-IB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr1b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CFK-43a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SKR6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZJI2-1",
            "uniprot_ac": "A0A8I5ZJI2",
            "uniprot_id": "A0A8I5ZJI2_RAT",
            "refseq_ac": "NP_001019430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase receptor",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein binding serine/threonine kinase receptor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1B",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IB",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr1b",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Bmpr1b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CFK-43a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0081237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081237"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081237"
}