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                "name": "primary ovarian failure caused by mutation in FMR1"
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                "id": "MONDO:0010706",
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                "id": "MONDO:0010706",
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                "id": "MONDO:0010706",
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                "id": "MONDO:0010706",
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                "id": "MIM:311360",
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                "id": "MIM:613955",
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            {
                "id": "MONDO:0012475",
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                "id": "MONDO:0012475",
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            {
                "id": "MONDO:0012475",
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            {
                "id": "MONDO:0012475",
                "name": "cone dystrophy with night blindness and supernormal rod responses KCNV2 related"
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            {
                "id": "MONDO:0012475",
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                "id": "MIM:610356",
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                "id": "MONDO:0012507",
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                "id": "MONDO:0012507",
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            {
                "id": "MONDO:0011264",
                "name": "THAP1 generalised isolated dystonia"
            },
            {
                "id": "MONDO:0011264",
                "name": "THAP1 generalized isolated dystonia"
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            {
                "id": "MONDO:0011264",
                "name": "generalised cervical and upper-limb-onset dystonia"
            },
            {
                "id": "MONDO:0011264",
                "name": "generalised isolated dystonia caused by mutation in THAP1"
            },
            {
                "id": "MONDO:0011264",
                "name": "generalized cervical and upper-limb-onset dystonia"
            },
            {
                "id": "MONDO:0011264",
                "name": "generalized isolated dystonia caused by mutation in THAP1"
            },
            {
                "id": "MONDO:0011264",
                "name": "idiopathic torsion dystonia of mixed type"
            },
            {
                "id": "MONDO:0011264",
                "name": "torsion dystonia type 6"
            },
            {
                "id": "MONDO:0011264",
                "name": "adolescent-onset dystonia of mixed type"
            },
            {
                "id": "MONDO:0011264",
                "name": "dystonia 6"
            },
            {
                "id": "MONDO:0011264",
                "name": "dystonia 6, torsion"
            },
            {
                "id": "MONDO:0011264",
                "name": "torsion dystonia adult onset mixed type"
            },
            {
                "id": "MIM:602629",
                "name": "Dystonia 6, torsion"
            }
        ],
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    {
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                "id": "MONDO:0007493",
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                "id": "MONDO:0007493",
                "name": "DYT4"
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                "id": "MONDO:0007493",
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            {
                "id": "MONDO:0007493",
                "name": "whispering dysphonia"
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            {
                "id": "MONDO:0007493",
                "name": "autosomal dominant torsion dystonia-4"
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            {
                "id": "MONDO:0007493",
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            {
                "id": "MIM:128101",
                "name": "Dystonia 4, torsion, autosomal dominant"
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        ],
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                "id": "DOID:0090043",
                "name": "Autosomal dominant Segawa syndrome"
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                "id": "DOID:0090043",
                "name": "DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT"
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                "id": "DOID:0090043",
                "name": "DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT"
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                "id": "DOID:0090043",
                "name": "DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION"
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            {
                "id": "DOID:0090043",
                "name": "GTPCH1-deficient DRD"
            },
            {
                "id": "DOID:0090043",
                "name": "GTPCH1-deficient dopa-responsive dystonia"
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            {
                "id": "DOID:0090043",
                "name": "HPD with marked diurnal fluctuation"
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            {
                "id": "DOID:0090043",
                "name": "Hereditary progressive dystonia with marked diurnal fluctuation"
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            {
                "id": "MONDO:0007495",
                "name": "dystonia 5"
            },
            {
                "id": "MONDO:0007495",
                "name": "DYT-GCH1"
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            {
                "id": "MONDO:0007495",
                "name": "Dopa-responsive dystonia, autosomal dominant"
            },
            {
                "id": "MONDO:0007495",
                "name": "GTP cyclohydrolase 1-deficient dopa-responsive dystonia"
            },
            {
                "id": "MONDO:0007495",
                "name": "Segawa Syndrome"
            },
            {
                "id": "MONDO:0007495",
                "name": "Segawa syndrome, autosomal dominant"
            },
            {
                "id": "MONDO:0007495",
                "name": "dystonia 5"
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            {
                "id": "MONDO:0007495",
                "name": "dystonia type 5"
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            {
                "id": "MONDO:0007495",
                "name": "dystonia, DOPA-responsive, with or without hyperphenylalaninemia"
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                "id": "MONDO:0007495",
                "name": "dystonia, Dopa-responsive, autosomal dominant"
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                "id": "MONDO:0007495",
                "name": "dystonia, progressive, with diurnal variation"
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                "id": "MONDO:0007495",
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                "id": "MONDO:0007495",
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            {
                "id": "MONDO:0007495",
                "name": "Dopa-responsive dystonia; Segawa syndrome AD"
            },
            {
                "id": "MONDO:0007495",
                "name": "dystonia, DOPA-responsive"
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            {
                "id": "MIM:128230",
                "name": "Dystonia, dopa-responsive"
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                "id": "DOID:0090045",
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                "id": "DOID:0090045",
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                "id": "MIM:612126",
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                "id": "MONDO:0012789",
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                "id": "MONDO:0014627",
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                "id": "MIM:314250",
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                "id": "MIM:258501",
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                "id": "MONDO:0010521",
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                "name": "AMELX amelogenesis imperfecta"
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                "id": "MONDO:0010521",
                "name": "amelogenesis imperfecta caused by mutation in AMELX"
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            {
                "id": "MONDO:0010521",
                "name": "amelogenesis imperfecta, type 1E, X-linked dominant"
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                "id": "MONDO:0010521",
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            {
                "id": "MONDO:0010521",
                "name": "amelogenesis imperfecta X-linked 1"
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                "name": "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1"
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            {
                "id": "MONDO:0010521",
                "name": "amelogenesis imperfecta, type IE"
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                "id": "MONDO:0010521",
                "name": "enamel hypoplasia X-linked"
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                "id": "MIM:301200",
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                "id": "DOID:0110060",
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                "id": "DOID:0110060",
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                "id": "DOID:0110060",
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                "id": "MONDO:0012926",
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            {
                "id": "MONDO:0012926",
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                "id": "MONDO:0012926",
                "name": "MMP20 amelogenesis imperfecta"
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                "id": "MONDO:0012926",
                "name": "amelogenesis imperfecta caused by mutation in MMP20"
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            {
                "id": "MONDO:0012926",
                "name": "amelogenesis imperfecta, type IIA2"
            },
            {
                "id": "MONDO:0012926",
                "name": "amelogenesis imperfecta, hypomaturation type, IIA2"
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                "id": "MIM:612529",
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                "id": "DOID:0110061",
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                "id": "MONDO:0013181",
                "name": "WDR72 amelogenesis imperfecta"
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                "id": "MONDO:0013181",
                "name": "amelogenesis imperfecta caused by mutation in WDR72"
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                "id": "MONDO:0013181",
                "name": "amelogenesis imperfecta hypomaturation type 2A3"
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                "id": "MONDO:0013181",
                "name": "amelogenesis imperfecta, hypomaturation type, IIA3"
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                "id": "MIM:611544",
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            {
                "id": "DOID:0110271",
                "name": "CTRCT23"
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            {
                "id": "DOID:0110271",
                "name": "lamellar cataract 23"
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                "id": "MONDO:0012489",
                "name": "cataract 23"
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                "id": "MONDO:0012489",
                "name": "CRYBA4 early-onset non-syndromic cataract"
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            {
                "id": "MONDO:0012489",
                "name": "CTRCT23"
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            {
                "id": "MONDO:0012489",
                "name": "cataract 23"
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            {
                "id": "MONDO:0012489",
                "name": "cataract type 23"
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            {
                "id": "MONDO:0012489",
                "name": "early-onset non-syndromic cataract caused by mutation in CRYBA4"
            },
            {
                "id": "MIM:610425",
                "name": "Cataract 23, multiple types"
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                "id": "DOID:0110272",
                "name": "CTRCT40"
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            {
                "id": "DOID:0110272",
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            {
                "id": "DOID:0110272",
                "name": "cataract 40 with or without microcornea"
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                "id": "MONDO:0010544",
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                "id": "MONDO:0010544",
                "name": "CTRCT40"
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                "id": "MONDO:0010544",
                "name": "NHS early-onset non-syndromic cataract"
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                "id": "MONDO:0010544",
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                "id": "MONDO:0010544",
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            {
                "id": "MONDO:0010544",
                "name": "cataract type 40"
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            {
                "id": "MONDO:0010544",
                "name": "early-onset non-syndromic cataract caused by mutation in NHS"
            },
            {
                "id": "MONDO:0010544",
                "name": "cataract 40, X-linked"
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            {
                "id": "MONDO:0010544",
                "name": "cataract congenital X-linked"
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            {
                "id": "MONDO:0010544",
                "name": "cataract, congenital, with microcornea or slight microphthalmia"
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            {
                "id": "MIM:302200",
                "name": "Cataract 40"
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                "id": "MONDO:0021018",
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                "id": "MONDO:0021018",
                "name": "DNAJB6 autosomal dominant limb-girdle muscular dystrophy"
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            {
                "id": "MONDO:0021018",
                "name": "LGMD1D"
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            {
                "id": "MONDO:0021018",
                "name": "LGMD1D (DNAJB6)"
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            {
                "id": "MONDO:0021018",
                "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6"
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            {
                "id": "MONDO:0021018",
                "name": "muscular dystrophy, limb-girdle, autosomal dominant 1"
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            {
                "id": "MONDO:0021018",
                "name": "LGMD1E"
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            {
                "id": "MONDO:0021018",
                "name": "LGMD1E (Bushby and Beckmann, 2003)"
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            {
                "id": "MONDO:0021018",
                "name": "autosomal dominant limb-girdle muscular dystrophy type 1E"
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            {
                "id": "MONDO:0021018",
                "name": "limb-girdle muscular dystrophy type 1D"
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                "id": "MONDO:0021018",
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                "id": "MONDO:0021018",
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                "id": "MIM:603511",
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                "name": "CAPN3 autosomal recessive limb-girdle muscular dystrophy"
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                "id": "MONDO:0009675",
                "name": "LGMD2A"
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            {
                "id": "MONDO:0009675",
                "name": "Leyden-Moebius muscular dystrophy"
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            {
                "id": "MONDO:0009675",
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                "id": "MONDO:0009675",
                "name": "autosomal recessive limb-girdle muscular dystrophy type 2A"
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                "id": "MONDO:0009675",
                "name": "calpainopathy"
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                "id": "MONDO:0009675",
                "name": "limb-girdle muscular dystrophy due to calpain deficiency"
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                "id": "MONDO:0009675",
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                "id": "MONDO:0009675",
                "name": "muscular dystrophy, limb-girdle, autosomal recessive 1"
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                "id": "MONDO:0009675",
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                "id": "MONDO:0009675",
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                "id": "MONDO:0009675",
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                "id": "MONDO:0009675",
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                "id": "MONDO:0009675",
                "name": "muscular dystrophy limb girdle type 2A, erb type"
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                "name": "beta-sarcoglycan-related LGMD R4"
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                "name": "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency"
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                "id": "MONDO:0011423",
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                "id": "MIM:604286",
                "name": "Muscular dystrophy, limb-girdle, autosomal recessive 4"
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                "id": "DOID:0110280",
                "name": "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency"
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                "name": "LGMD2F"
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                "id": "DOID:0110280",
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                "id": "MONDO:0011028",
                "name": "autosomal recessive limb-girdle muscular dystrophy type 2F"
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                "id": "MONDO:0011028",
                "name": "delta-sarcoglycanopathy"
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                "id": "MONDO:0011028",
                "name": "LGMD2F"
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                "id": "MONDO:0011028",
                "name": "SGCD autosomal recessive limb-girdle muscular dystrophy"
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                "id": "MONDO:0011028",
                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD"
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                "id": "MONDO:0011028",
                "name": "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency"
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                "id": "MONDO:0011028",
                "name": "muscular dystrophy, limb-girdle, autosomal recessive 6"
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                "id": "MONDO:0011028",
                "name": "limb-girdle muscular dystrophy type 2F"
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                "name": "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency"
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                "id": "MONDO:0011028",
                "name": "muscular dystrophy, limb-girdle, type 2F"
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                "id": "MIM:601287",
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                "id": "DOID:0110281",
                "name": "LGMD2G"
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                "id": "DOID:0110281",
                "name": "muscular dystrophy, limb-girdle, type 2G"
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                "id": "DOID:0110281",
                "name": "limb-girdle muscular dystrophy due to telethonin deficiency"
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            {
                "id": "MONDO:0011170",
                "name": "autosomal recessive limb-girdle muscular dystrophy type 2G"
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            {
                "id": "MONDO:0011170",
                "name": "LGMD2G"
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                "id": "MONDO:0011170",
                "name": "TCAP autosomal recessive limb-girdle muscular dystrophy"
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            {
                "id": "MONDO:0011170",
                "name": "Tcap autosomal recessive limb-girdle muscular dystrophy"
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                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP"
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                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap"
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                "id": "MONDO:0011170",
                "name": "limb-girdle muscular dystrophy, type 2G"
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                "id": "MIM:601954",
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                "id": "DOID:0110282",
                "name": "LGMD2H"
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            {
                "id": "DOID:0110282",
                "name": "muscular dystrophy Hutterite type"
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            {
                "id": "DOID:0110282",
                "name": "sarcotubular myopathy"
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            {
                "id": "DOID:0110282",
                "name": "limb-girdle muscular dystrophy due to TRIM32 deficiency"
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                "id": "MONDO:0009683",
                "name": "autosomal recessive limb-girdle muscular dystrophy type 2H"
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                "id": "MONDO:0009683",
                "name": "LGMD2H"
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                "id": "MONDO:0009683",
                "name": "Sarcotubular myopathy"
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                "id": "MONDO:0009683",
                "name": "TRIM32 autosomal recessive limb-girdle muscular dystrophy"
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            {
                "id": "MONDO:0009683",
                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32"
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                "id": "MONDO:0009683",
                "name": "autosomal recessive limb-girdle muscular dystrophy type 2H"
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                "name": "limb-girdle muscular dystrophy due to TRIM32 deficiency"
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                "name": "sarcotubular myopathy"
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                "name": "limb-girdle muscular dystrophy type 2H"
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            {
                "id": "MONDO:0009683",
                "name": "muscular dystrophy limb-girdle type 2H"
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                "id": "MONDO:0009683",
                "name": "muscular dystrophy, limb-girdle, type 2H"
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                "id": "MIM:254110",
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                "name": "TTN autosomal recessive limb-girdle muscular dystrophy"
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                "id": "MONDO:0012127",
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                "name": "muscular dystrophy, limb-girdle, autosomal recessive 10"
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                "id": "MONDO:0012127",
                "name": "muscular dystrophy, limb-girdle, type 2J"
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                "name": "limb-girdle muscular dystrophy type 2J"
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                "name": "autosomal recessive limb-girdle muscular dystrophy type 2L"
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                "name": "LGMD2Q"
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                "id": "MONDO:0013390",
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                "name": "muscular dystrophy, limb-girdle, type 2Q"
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                "id": "MONDO:0013390",
                "name": "limb-girdle muscular dystrophy type 2Q"
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                "id": "MIM:613723",
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                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2"
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                "id": "MONDO:0014788",
                "name": "muscular dystrophy, limb-girdle, type 2W"
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                "id": "MONDO:0014788",
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                "id": "MIM:611755",
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                "name": "muscular dystrophy, limb-girdle, autosomal dominant 3"
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                "id": "MONDO:0012193",
                "name": "limb-girdle muscular dystrophy type 1G"
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            {
                "id": "MONDO:0012193",
                "name": "limb-girdle muscular dystrophy, type 1G"
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                "id": "MIM:609115",
                "name": "Muscular dystrophy, limb-girdle, autosomal dominant 3"
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                "id": "MONDO:0007266",
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            {
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                "name": "P3H1 osteogenesis imperfecta"
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                "id": "MONDO:0012581",
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                "id": "MONDO:0012581",
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                "id": "MIM:610915",
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                "id": "MONDO:0012536",
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                "name": "severe osteogenesis imperfecta"
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                "id": "MONDO:0009804",
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                "id": "MIM:259420",
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                "id": "MONDO:0013515",
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                "id": "MONDO:0013515",
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            {
                "id": "MONDO:0013515",
                "name": "SERPINFI- related osteogenesis imperfecta"
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                "id": "MONDO:0013515",
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                "id": "MONDO:0013515",
                "name": "osteogenesis imperfecta, type VI"
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                "id": "MIM:613982",
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                "name": "retinitis pigmentosa 59"
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                "name": "DHDDS retinitis pigmentosa"
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                "id": "MONDO:0013468",
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                "id": "MIM:613861",
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                "id": "MONDO:0013413",
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            {
                "id": "MIM:613767",
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                "id": "MONDO:0010945",
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                "name": "retinitis pigmentosa 17"
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                "id": "MIM:600852",
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                "id": "MIM:613582",
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                "id": "MONDO:0007269",
                "name": "dilated cardiomyopathy type 1A"
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            {
                "id": "MONDO:0007269",
                "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation"
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            {
                "id": "MONDO:0007269",
                "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA"
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            {
                "id": "MONDO:0007269",
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            {
                "id": "MIM:115200",
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                "id": "MONDO:0011095",
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                "id": "MONDO:0011095",
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            {
                "id": "MONDO:0011095",
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                "id": "MIM:601494",
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                "id": "MONDO:0013373",
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            {
                "id": "MONDO:0013373",
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            {
                "id": "MONDO:0013373",
                "name": "dilated cardiomyopathy type 1V"
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                "id": "MONDO:0013373",
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            {
                "id": "MONDO:0013373",
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                "id": "MIM:613697",
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            {
                "id": "MONDO:0012808",
                "name": "dilated cardiomyopathy type 1AA"
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            {
                "id": "MONDO:0012808",
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            {
                "id": "MONDO:0012808",
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                "id": "MIM:612158",
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                "id": "MONDO:0011400",
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                "id": "MIM:604145",
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                "id": "MIM:601154",
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                "id": "MIM:611879",
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                "id": "DOID:0110440",
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                "id": "MONDO:0011541",
                "name": "neurosensory hearing loss with dilated cardiomyopathy"
            },
            {
                "id": "MONDO:0011541",
                "name": "sensorineural deafness with dilated cardiomyopathy"
            },
            {
                "id": "MONDO:0011541",
                "name": "sensorineural hearing loss with dilated cardiomyopathy"
            },
            {
                "id": "MONDO:0011541",
                "name": "cardiomyopathy, dilated, 1J"
            },
            {
                "id": "MIM:605362",
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            }
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        "record_url": "http://disease-ontology.org/term/DOID:0110440",
        "snv_count": 0,
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        "glycan_count": 0,
        "biomarker_count": 0,
        "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly",
        "biomarker_type": "",
        "biomarker_id": "",
        "hit_score": 0.6,
        "record_type": "disease"
    },
    {
        "record_id": "doid.0110441",
        "disease_id": "DOID:0110441",
        "recommended_name": "dilated cardiomyopathy 2B",
        "synonyms": [
            {
                "id": "DOID:0110441",
                "name": "CMD2B"
            },
            {
                "id": "MONDO:0013848",
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            },
            {
                "id": "MONDO:0013848",
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            },
            {
                "id": "MONDO:0013848",
                "name": "GATAD1 familial isolated dilated cardiomyopathy"
            },
            {
                "id": "MONDO:0013848",
                "name": "cardiomyopathy, dilated, type 2B"
            },
            {
                "id": "MONDO:0013848",
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            },
            {
                "id": "MONDO:0013848",
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            },
            {
                "id": "MONDO:0013848",
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            },
            {
                "id": "MONDO:0013848",
                "name": "cardiomyopathy, dilated, 2B"
            },
            {
                "id": "MIM:614672",
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            }
        ],
        "record_url": "http://disease-ontology.org/term/DOID:0110441",
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]