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                "id": "DOID:3613",
                "name": "ASPARTOACYLASE DEFICIENCY"
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                "id": "MONDO:0010079",
                "name": "Canavan disease"
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                "id": "MONDO:0010079",
                "name": "ACY2 deficiency"
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            {
                "id": "MONDO:0010079",
                "name": "Canavan disease"
            },
            {
                "id": "MONDO:0010079",
                "name": "Canavan-VAN Bogaert-Bertrand disease"
            },
            {
                "id": "MONDO:0010079",
                "name": "aminoacylase 2 deficiency"
            },
            {
                "id": "MONDO:0010079",
                "name": "aspartoacylase deficiency"
            },
            {
                "id": "MONDO:0010079",
                "name": "spongy degeneration of central nervous system"
            },
            {
                "id": "MONDO:0010079",
                "name": "spongy degeneration of the brain"
            },
            {
                "id": "MONDO:0010079",
                "name": "Acy2 deficiency"
            },
            {
                "id": "MONDO:0010079",
                "name": "Asp deficiency"
            },
            {
                "id": "MONDO:0010079",
                "name": "Aspa deficiency"
            },
            {
                "id": "MONDO:0010079",
                "name": "Canavan-Van Bogaert-Bertrand disease"
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            {
                "id": "MONDO:0010079",
                "name": "Von Bogaert-Bertrand disease"
            },
            {
                "id": "MONDO:0010079",
                "name": "spongy Degeneration of central nervous system"
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            {
                "id": "MONDO:0010079",
                "name": "spongy degeneration of the central nervous system"
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            {
                "id": "MIM:271900",
                "name": "Canavan disease"
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                "id": "DOID:3614",
                "name": "Hypogonadism with anosmia"
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            {
                "id": "DOID:3614",
                "name": "Kallman syndrome"
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            {
                "id": "DOID:3614",
                "name": "Kallman's syndrome"
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            {
                "id": "DOID:3614",
                "name": "familial hypogonadism with anosmia"
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            {
                "id": "DOID:3620",
                "name": "CNS neoplasm"
            },
            {
                "id": "DOID:3620",
                "name": "central nervous system tumor"
            },
            {
                "id": "DOID:3620",
                "name": "central nervous system tumors"
            },
            {
                "id": "DOID:3620",
                "name": "malignant neoplasm of central nervous system"
            },
            {
                "id": "DOID:3620",
                "name": "malignant tumor of CNS"
            },
            {
                "id": "DOID:3620",
                "name": "neoplasm of central nervous system"
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        ],
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                "id": "DOID:3627",
                "name": "ruptured aortic aneurysm"
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            {
                "id": "DOID:363",
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                "id": "DOID:363",
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            {
                "id": "DOID:363",
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            {
                "id": "DOID:363",
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            {
                "id": "DOID:363",
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            {
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                "id": "DOID:3633",
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            {
                "id": "DOID:3633",
                "name": "beta-mannosidase deficiency"
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            {
                "id": "DOID:3633",
                "name": "lysosomal beta-mannosidase deficiency"
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            {
                "id": "MONDO:0009562",
                "name": "beta-mannosidosis"
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            {
                "id": "MONDO:0009562",
                "name": "Beta-D-mannosidosis"
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            {
                "id": "MONDO:0009562",
                "name": "Beta-mannosidase deficiency"
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            {
                "id": "MONDO:0009562",
                "name": "beta-mannosidase deficiency"
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            {
                "id": "MONDO:0009562",
                "name": "beta-mannosidosis"
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            {
                "id": "MONDO:0009562",
                "name": "lysosomal beta-mannosidase deficiency"
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            {
                "id": "MONDO:0009562",
                "name": "mannosidosis, beta"
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            {
                "id": "MONDO:0009562",
                "name": "MANSB"
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            {
                "id": "MONDO:0009562",
                "name": "lysosomal Beta-mannosidase deficiency"
            },
            {
                "id": "MONDO:0009562",
                "name": "mannosidosis, BETA A, lysosomal"
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            {
                "id": "MIM:248510",
                "name": "Mannosidosis, beta A, lysosomal"
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                "id": "MONDO:0011088",
                "name": "congenital myasthenic syndrome 1A, slow-channel"
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            {
                "id": "MONDO:0011088",
                "name": "congenital myasthenic syndrome caused by mutation in CHRNA1"
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                "id": "MONDO:0011088",
                "name": "congenital myasthenic syndrome type 1A"
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            {
                "id": "MONDO:0011088",
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            {
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                "id": "MONDO:0011088",
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            {
                "id": "MONDO:0011088",
                "name": "myasthenic syndrome, congenital, type IIa"
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            {
                "id": "MONDO:0011088",
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            {
                "id": "MIM:601462",
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                "name": "pyruvate dehydrogenase E2 deficiency"
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            {
                "id": "MONDO:0009502",
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                "id": "MONDO:0009503",
                "name": "pyruvate dehydrogenase E3-binding protein deficiency"
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                "id": "MONDO:0009503",
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                "id": "MONDO:0009503",
                "name": "dihydrolipoyl dehydrogenase deficiency"
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                "id": "MONDO:0009503",
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                "id": "MONDO:0009503",
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                "name": "pyruvate dehydrogenase E3-binding PROTEIN deficiency"
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                "id": "MONDO:0010717",
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                "id": "MONDO:0010717",
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                "name": "infantile necrotizing encephalomyelopathy"
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            {
                "id": "MONDO:0009723",
                "name": "Leigh syndrome due to mitochondrial Complex 1 deficiency"
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            {
                "id": "MONDO:0009723",
                "name": "Leigh syndrome due to mitochondrial Complex 2 deficiency"
            },
            {
                "id": "MONDO:0009723",
                "name": "Leigh syndrome due to mitochondrial Complex 3 deficiency"
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            {
                "id": "MONDO:0009723",
                "name": "Leigh syndrome due to mitochondrial Complex 4 deficiency"
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            {
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                "name": "Leigh syndrome due to mitochondrial Complex 5 deficiency"
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                "id": "MONDO:0009723",
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                "id": "MONDO:0009723",
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                "id": "MONDO:0009723",
                "name": "necrotizing encephalopathy, infantile Subacute, of Leigh"
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                "id": "MONDO:0009723",
                "name": "subacute necrotizing encephalomyelopathy"
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            {
                "id": "MONDO:0009723",
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            {
                "id": "MIM:256000",
                "name": "Leigh syndrome"
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    {
        "record_id": "doid.3770",
        "disease_id": "DOID:3770",
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                "id": "DOID:3770",
                "name": "Fibrosis of lung"
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        "biomarker_id": "",
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    {
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        "disease_id": "DOID:3774",
        "recommended_name": "chordoid glioma",
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            {
                "id": "DOID:3774",
                "name": "Chordoid glioma of 3rd Ventricle"
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            {
                "id": "DOID:3774",
                "name": "Chordoid glioma of third ventricle"
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            {
                "id": "DOID:3774",
                "name": "third ventricle chordoid glioma"
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        ],
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    {
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                "id": "MONDO:0010561",
                "name": "Coffin-Lowry syndrome"
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            {
                "id": "MONDO:0010561",
                "name": "CLS"
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            {
                "id": "MONDO:0010561",
                "name": "Coffin Lowry Syndrome"
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            {
                "id": "MONDO:0010561",
                "name": "Coffin-Lowry syndrome"
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            {
                "id": "MONDO:0010561",
                "name": "Coffin-Lowry syndrome, X-linked dominant"
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            {
                "id": "MONDO:0010561",
                "name": "COFFIN-Lowry syndrome"
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            {
                "id": "MONDO:0010561",
                "name": "Coffin syndrome"
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            {
                "id": "MONDO:0010561",
                "name": "Coffin syndrome 1"
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            {
                "id": "MONDO:0010561",
                "name": "dwarfism, lean spastic type"
            },
            {
                "id": "MONDO:0010561",
                "name": "intellectual disability with osteocartilaginous abnormalities"
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            {
                "id": "MONDO:0010561",
                "name": "lean spastic dwarfism"
            },
            {
                "id": "MONDO:0010561",
                "name": "mental retardation with osteocartilaginous abnormalities"
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            {
                "id": "MIM:303600",
                "name": "Coffin-Lowry syndrome"
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                "id": "DOID:3798",
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            {
                "id": "DOID:3798",
                "name": "Empyema of pleura without fistula"
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            {
                "id": "DOID:3798",
                "name": "Empyema with no fistula"
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            {
                "id": "DOID:3798",
                "name": "Empyema with pleural fistula"
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            {
                "id": "DOID:3798",
                "name": "Empyema without mention of fistula"
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            {
                "id": "DOID:3798",
                "name": "Empyema, chest"
            },
            {
                "id": "DOID:3798",
                "name": "Pleural empyema with fistula"
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            {
                "id": "DOID:3798",
                "name": "Purulent pleurisy"
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            {
                "id": "DOID:3798",
                "name": "Thorax abscess"
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            {
                "id": "DOID:3798",
                "name": "abscess of pleural cavity"
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            {
                "id": "DOID:3798",
                "name": "abscess of thorax"
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            {
                "id": "DOID:3798",
                "name": "empyema"
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            {
                "id": "DOID:3798",
                "name": "empyema with fistula"
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            {
                "id": "DOID:3798",
                "name": "lung empyema"
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            {
                "id": "DOID:3798",
                "name": "pleural empyema with no fistula"
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            {
                "id": "DOID:3798",
                "name": "purulent pleuritis"
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            {
                "id": "DOID:3798",
                "name": "pyothorax"
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                "id": "DOID:3803",
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                "id": "DOID:3803",
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                "id": "DOID:3803",
                "name": "Crigler-Najjar syndrome, type I"
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                "id": "MONDO:0021020",
                "name": "Crigler-Najjar syndrome type 1"
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                "id": "MONDO:0021020",
                "name": "Crigler-Najjar syndrome, type 1"
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            {
                "id": "MONDO:0021020",
                "name": "Crigler-Najjar syndrome, type I"
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            {
                "id": "MONDO:0021020",
                "name": "UGT deficiency type 1"
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            {
                "id": "MONDO:0021020",
                "name": "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1"
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            {
                "id": "MONDO:0021020",
                "name": "bilirubin-UGT deficiency type 1"
            },
            {
                "id": "MONDO:0021020",
                "name": "hereditary unconjugated hyperbilirubinemia type 1"
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            {
                "id": "MONDO:0021020",
                "name": "hyperbilirubinemia, Crigler-Najjar type 1"
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            {
                "id": "MONDO:0021020",
                "name": "Crigler Najjar syndrome, type 1"
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            {
                "id": "MIM:218800",
                "name": "Crigler-Najjar syndrome 1"
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                "id": "DOID:3805",
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            {
                "id": "MONDO:0008290",
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                "id": "MONDO:0008290",
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            {
                "id": "MONDO:0008290",
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            {
                "id": "MONDO:0008290",
                "name": "porokeratosis 1, multiple types"
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            {
                "id": "MONDO:0008290",
                "name": "porokeratosis of Mibelli"
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            {
                "id": "MIM:175800",
                "name": "Porokeratosis 1, multiple types"
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            {
                "id": "DOID:381",
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            {
                "id": "DOID:381",
                "name": "Ankylosis of joint of lower leg"
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            {
                "id": "DOID:381",
                "name": "Ankylosis of joint of upper arm"
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            {
                "id": "DOID:381",
                "name": "Ankylosis of multiple joints"
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            {
                "id": "DOID:381",
                "name": "Infectious arthropathy"
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            {
                "id": "DOID:381",
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                "id": "DOID:381",
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            {
                "id": "DOID:381",
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            {
                "id": "DOID:381",
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            {
                "id": "DOID:381",
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            {
                "id": "DOID:381",
                "name": "Joint ankylosis of the pelvic region and thigh"
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            {
                "id": "DOID:381",
                "name": "Joint ankylosis of the shoulder region"
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            {
                "id": "DOID:381",
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                "id": "DOID:381",
                "name": "ankylosis of ankle and foot joint"
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                "id": "DOID:381",
                "name": "ankylosis of forearm joint"
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            {
                "id": "DOID:381",
                "name": "ankylosis of hand joint"
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            {
                "id": "DOID:381",
                "name": "ankylosis of joint of multiple sites"
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            {
                "id": "DOID:381",
                "name": "ankylosis of joint of pelvic region and thigh"
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            {
                "id": "DOID:381",
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            {
                "id": "DOID:381",
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                "id": "DOID:381",
                "name": "ankylosis of upper arm joint"
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                "id": "MONDO:0007719",
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                "id": "MONDO:0007719",
                "name": "diaphragmatic hernia, congenital"
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            {
                "id": "MONDO:0007719",
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                "id": "MONDO:0007719",
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                "id": "MONDO:0009103",
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                "id": "MONDO:0009103",
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                "id": "MONDO:0009103",
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                "id": "MONDO:0009103",
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                "id": "MONDO:0012431",
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                "id": "MONDO:0012431",
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                "id": "MONDO:0012431",
                "name": "congenital diaphragmatic hernia caused by mutation in ZFPM2"
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            {
                "id": "MONDO:0012431",
                "name": "diaphragmatic hernia 3"
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                "id": "MONDO:0012431",
                "name": "diaphragmatic hernia type 3"
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            {
                "id": "MONDO:0012431",
                "name": "DIH3"
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            {
                "id": "MIM:610187",
                "name": "Diaphragmatic hernia 3"
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MONDO:0007052",
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                "id": "MIM:102200",
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                "id": "DOID:384",
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                "id": "MONDO:0008685",
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                "id": "MONDO:0008685",
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                "id": "MONDO:0008685",
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            {
                "id": "MONDO:0008685",
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            {
                "id": "MONDO:0008685",
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                "id": "MONDO:0008685",
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                "id": "MONDO:0008685",
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                "id": "MONDO:0008685",
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                "id": "MONDO:0008685",
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                "id": "MONDO:0008685",
                "name": "accessory atrioventricular pathways"
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                "id": "MONDO:0008685",
                "name": "preexcitation syndrome"
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            {
                "id": "MIM:194200",
                "name": "Wolff-Parkinson-White syndrome"
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    {
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                "id": "DOID:3840",
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    {
        "record_id": "doid.3852",
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        "recommended_name": "Peutz-Jeghers syndrome",
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                "id": "DOID:3852",
                "name": "Colonic hamartomatous polyp"
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            {
                "id": "DOID:3852",
                "name": "Peutz Jeghers colon polyp"
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            {
                "id": "DOID:3852",
                "name": "Peutz Jeghers polyp"
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            {
                "id": "DOID:3852",
                "name": "Peutz-Jeghers polyp of small Intestine"
            },
            {
                "id": "DOID:3852",
                "name": "gastric Peutz-Jeghers polyp"
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            {
                "id": "DOID:3852",
                "name": "peutz-jeghers small bowel hamartoma"
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            {
                "id": "MONDO:0008280",
                "name": "Peutz-Jeghers syndrome"
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            {
                "id": "MONDO:0008280",
                "name": "Jeghers-Peutz syndrome"
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            {
                "id": "MONDO:0008280",
                "name": "PJS"
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            {
                "id": "MONDO:0008280",
                "name": "Peutz Jeghers Syndrome"
            },
            {
                "id": "MONDO:0008280",
                "name": "Peutz Jeghers colon polyp"
            },
            {
                "id": "MONDO:0008280",
                "name": "Peutz's syndrome"
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            {
                "id": "MONDO:0008280",
                "name": "Peutz-Jeghers polyp of small intestine"
            },
            {
                "id": "MONDO:0008280",
                "name": "Peutz-Jeghers small bowel hamartoma"
            },
            {
                "id": "MONDO:0008280",
                "name": "Peutz-Jeghers syndrome"
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            {
                "id": "MONDO:0008280",
                "name": "STK11-related Peutz-Jeghers syndrome"
            },
            {
                "id": "MONDO:0008280",
                "name": "colonic hamartomatous polyp"
            },
            {
                "id": "MONDO:0008280",
                "name": "gastric Peutz-Jeghers polyp"
            },
            {
                "id": "MONDO:0008280",
                "name": "hamartomatous intestinal polyposis"
            },
            {
                "id": "MONDO:0008280",
                "name": "polyps and spots syndrome"
            },
            {
                "id": "MONDO:0008280",
                "name": "Peutz Jeghers polyposis"
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            {
                "id": "MONDO:0008280",
                "name": "lentiginosis, perioral"
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                "id": "DOID:9258",
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                "id": "MONDO:0011775",
                "name": "nasopharyngeal carcinoma"
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                "id": "MONDO:0009877",
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                "id": "MONDO:0009877",
                "name": "primary GH resistance"
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                "id": "MONDO:0009877",
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            {
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                "id": "MONDO:0009877",
                "name": "Laron type pituitary dwarfism I"
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                "id": "MONDO:0009877",
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                "id": "MONDO:0009877",
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                "id": "MIM:262500",
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                "id": "MONDO:0009693",
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            {
                "id": "MONDO:0009607",
                "name": "hypermethioninemia, isolated persistent"
            },
            {
                "id": "MONDO:0009607",
                "name": "methionine adenosyltransferase I/III deficiency"
            },
            {
                "id": "MIM:250850",
                "name": "Methionine adenosyltransferase deficiency"
            }
        ],
        "record_url": "https://monarchinitiative.org/disease/MONDO:0009607",
        "snv_count": 0,
        "protein_count": 1,
        "glycan_count": 0,
        "biomarker_count": 0,
        "species_list": "Human",
        "biomarker_type": "",
        "biomarker_id": "",
        "hit_score": 0.2,
        "record_type": "disease"
    },
    {
        "record_id": "mondo.0009615",
        "disease_id": "MONDO:0009615",
        "recommended_name": "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency",
        "synonyms": [
            {
                "id": "MONDO:0009615",
                "name": "MCEE deficiency"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonic aciduria III"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonic aciduria III, formerly"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonyl-CoA epimerase deficiency"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency"
            },
            {
                "id": "MONDO:0009615",
                "name": "methylmalonyl-Coa racemase deficiency"
            },
            {
                "id": "MIM:251120",
                "name": "Methylmalonyl-CoA epimerase deficiency"
            }
        ],
        "record_url": "https://monarchinitiative.org/disease/MONDO:0009615",
        "snv_count": 0,
        "protein_count": 1,
        "glycan_count": 0,
        "biomarker_count": 0,
        "species_list": "Human",
        "biomarker_type": "",
        "biomarker_id": "",
        "hit_score": 0.2,
        "record_type": "disease"
    }
]
