{
    "disease_id": "DOID:0050737",
    "recommended_name": {
        "id": "DOID:0050737",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050737",
        "name": "autosomal recessive disease",
        "description": "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0081374",
            "label": "nemaline myopathy 5B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061026",
            "label": "hereditary pyropoikilocytosis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061024",
            "label": "nonphotosensitive trichothiodystrophy 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061025",
            "label": "familial restrictive cardiomyopathy 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061023",
            "label": "nonphotosensitive trichothiodystrophy 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061020",
            "label": "combined pituitary hormone deficiency 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061021",
            "label": "combined pituitary hormone deficiency 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14671",
            "label": "multiple intestinal atresia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080163",
            "label": "otulipenia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2962",
            "label": "Cockayne syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080908",
                    "label": "Cockayne syndrome B",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080907",
                    "label": "Cockayne syndrome A",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080910",
                    "label": "cerebrooculofacioskeletal syndrome",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0080911",
                            "label": "cerebrooculofacioskeletal syndrome 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080914",
                            "label": "cerebrooculofacioskeletal syndrome 4",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080913",
                            "label": "cerebrooculofacioskeletal syndrome 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080912",
                            "label": "cerebrooculofacioskeletal syndrome 2",
                            "link_status": true,
                            "children": []
                        }
                    ]
                }
            ]
        },
        {
            "id": "DOID:0070248",
            "label": "autosomal recessive Emery-Dreifuss muscular dystrophy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081143",
            "label": "agammaglobulinemia 8B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081141",
            "label": "agammaglobulinemia 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081419",
            "label": "childhood-onset dystonia with optic atrophy and basal ganglia abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080455",
            "label": "developmental and epileptic encephalopathy 52",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080427",
            "label": "developmental and epileptic encephalopathy 40",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080426",
            "label": "developmental and epileptic encephalopathy 63",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112236",
            "label": "lissencephaly 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112235",
            "label": "lissencephaly 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112233",
            "label": "lissencephaly 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112230",
            "label": "lissencephaly 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112231",
            "label": "lissencephaly 7 with cerebellar hypoplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080391",
            "label": "nephrotic syndrome type 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080390",
            "label": "nephrotic syndrome type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080393",
            "label": "nephrotic syndrome type 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080392",
            "label": "nephrotic syndrome type 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080394",
            "label": "nephrotic syndrome type 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050656",
            "label": "pseudo-TORCH syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111216",
            "label": "autosomal recessive centronuclear myopathy",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111221",
                    "label": "centronuclear myopathy 6 with fiber-type disproportion",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111222",
                    "label": "centronuclear myopathy 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111220",
                    "label": "centronuclear myopathy 2",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:12714",
            "label": "Ellis-Van Creveld syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:12712",
            "label": "nephronophthisis",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111116",
                    "label": "nephronophthisis 7",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111117",
                    "label": "nephronophthisis-like nephropathy 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111114",
                    "label": "nephronophthisis 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111115",
                    "label": "nephronophthisis 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111112",
                    "label": "nephronophthisis 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111113",
                    "label": "nephronophthisis 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111118",
                    "label": "nephronophthisis 11",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111119",
                    "label": "nephronophthisis 12",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111123",
                    "label": "nephronophthisis 15",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111122",
                    "label": "nephronophthisis 14",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111121",
                    "label": "nephronophthisis 13",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111120",
                    "label": "nephronophthisis 9",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111127",
                    "label": "nephronophthisis 20",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111126",
                    "label": "nephronophthisis 19",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111125",
                    "label": "nephronophthisis 18",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111124",
                    "label": "nephronophthisis 16",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0060065",
            "label": "autosomal recessive pyridoxine-refractory sideroblastic anemia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080246",
            "label": "Galloway-Mowat syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080245",
            "label": "Galloway-Mowat syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2754",
            "label": "glycogen storage disease VI",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2750",
            "label": "glycogen storage disease IV",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2752",
            "label": "glycogen storage disease II",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070476",
            "label": "diphthamide deficiency syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070479",
                    "label": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070478",
                    "label": "diphthamide deficiency syndrome 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070477",
                    "label": "diphthamide deficiency syndrome 1",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0070473",
            "label": "Zaki syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081352",
            "label": "congenital myopathy 20",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081353",
            "label": "congenital myopathy 21",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081350",
            "label": "congenital myopathy 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081351",
            "label": "congenital myopathy 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081354",
            "label": "congenital myopathy 22A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081355",
            "label": "congenital myopathy 22B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060939",
            "label": "dystonia 32",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060938",
            "label": "dystonia 31",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111858",
            "label": "primary ciliary dyskinesia 41",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111857",
            "label": "primary ciliary dyskinesia 45",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111855",
            "label": "primary ciliary dyskinesia 42",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111853",
            "label": "primary ciliary dyskinesia 40",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111852",
            "label": "primary ciliary dyskinesia 38",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111851",
            "label": "primary ciliary dyskinesia 44",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050949",
            "label": "autosomal recessive hypophosphatemic rickets",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111668",
            "label": "Kohlschutter-Tonz syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111669",
            "label": "hyaline fibromatosis syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111665",
            "label": "ectodermal dysplasia 10B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111666",
            "label": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111667",
            "label": "enterokinase deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111660",
            "label": "ectodermal dysplasia 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111662",
            "label": "ectodermal dysplasia 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112004",
            "label": "immunodeficiency 71",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112006",
            "label": "immunodeficiency 69",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080181",
            "label": "PHARC syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110959",
            "label": "Gaucher's disease type III",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0112250",
                    "label": "Gaucher's disease type IIIC",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0070262",
            "label": "congenital disorder of glycosylation type IIj",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070263",
            "label": "congenital disorder of glycosylation type IIk",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070260",
            "label": "congenital disorder of glycosylation type IIh",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070261",
            "label": "congenital disorder of glycosylation type IIi",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070267",
            "label": "congenital disorder of glycosylation type IIo",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070264",
            "label": "congenital disorder of glycosylation type IIl",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070268",
            "label": "congenital disorder of glycosylation type IIp",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070269",
            "label": "congenital disorder of glycosylation type IIq",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081161",
            "label": "dilated cardiomyopathy 2E",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081160",
            "label": "dilated cardiomyopathy 2D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081163",
            "label": "dilated cardiomyopathy 2G",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081162",
            "label": "dilated cardiomyopathy 2F",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060236",
            "label": "xanthinuria",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070453",
                    "label": "xanthinuria type II",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070452",
                    "label": "xanthinuria type I",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0060237",
            "label": "Warburg micro syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0110719",
                    "label": "Warburg micro syndrome 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110718",
                    "label": "Warburg micro syndrome 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110716",
                    "label": "Warburg micro syndrome 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110717",
                    "label": "Warburg micro syndrome 2",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0060238",
            "label": "Van Maldergem syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080585",
                    "label": "Van Maldergem syndrome 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080586",
                    "label": "Van Maldergem syndrome 2",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0060728",
            "label": "congenital disorder of deglycosylation 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110329",
            "label": "Leber congenital amaurosis 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110183",
            "label": "Charcot-Marie-Tooth disease type 4C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110186",
            "label": "Charcot-Marie-Tooth disease type 4D",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110187",
            "label": "Charcot-Marie-Tooth disease type 4K",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110184",
            "label": "Charcot-Marie-Tooth disease type 4J",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110185",
            "label": "Charcot-Marie-Tooth disease type 4A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110188",
            "label": "Leber congenital amaurosis 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110189",
            "label": "Leber congenital amaurosis 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110375",
            "label": "retinitis pigmentosa 40",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110374",
            "label": "retinitis pigmentosa 68",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110376",
            "label": "retinitis pigmentosa 41",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110371",
            "label": "retinitis pigmentosa 56",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110372",
            "label": "retinitis pigmentosa 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111057",
            "label": "platelet-type bleeding disorder 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111051",
            "label": "platelet-type bleeding disorder 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050632",
            "label": "oculocutaneous albinism",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070100",
                    "label": "oculocutaneous albinism type VII",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070098",
                    "label": "oculocutaneous albinism type IV",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070095",
                    "label": "oculocutaneous albinism type IB",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070094",
                    "label": "oculocutaneous albinism type IA",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070097",
                    "label": "oculocutaneous albinism type III",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070096",
                    "label": "oculocutaneous albinism type II",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080614",
                    "label": "oculocutaneous albinism type VI",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0050634",
            "label": "alopecia universalis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111589",
            "label": "COACH syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111588",
            "label": "Greenberg dysplasia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111585",
            "label": "carnitine-acylcarnitine translocase deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111587",
            "label": "Gordon Holmes syndrome",
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            "id": "DOID:0111586",
            "label": "Martsolf syndrome",
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            "label": "Behr syndrome",
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            "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
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            "id": "DOID:0111274",
            "label": "CODAS syndrome",
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            "id": "DOID:0111278",
            "label": "histiocytosis-lymphadenopathy plus syndrome",
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            "id": "DOID:0070454",
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            "id": "DOID:0070451",
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            "id": "DOID:0070450",
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            "id": "DOID:0081330",
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            "id": "DOID:0081333",
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            "id": "DOID:0081334",
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            "id": "DOID:0081335",
            "label": "Becker disease",
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            "id": "DOID:0060915",
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            "id": "DOID:0060911",
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            "id": "DOID:0060919",
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            "id": "DOID:0110156",
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            "id": "DOID:0111871",
            "label": "photosensitive trichothiodystrophy 3",
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            "id": "DOID:0111870",
            "label": "nonphotosensitive trichothiodystrophy 7",
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            "id": "DOID:0111873",
            "label": "photosensitive trichothiodystrophy 1",
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            "id": "DOID:0111872",
            "label": "nonphotosensitive trichothiodystrophy 6",
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            "id": "DOID:1930",
            "label": "Laurence-Moon syndrome",
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            "id": "DOID:1935",
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                    "id": "DOID:0081011",
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                    "id": "DOID:0081010",
                    "label": "Bardet-Biedl syndrome 21",
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                    "id": "DOID:0110136",
                    "label": "Bardet-Biedl syndrome 14",
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                    "id": "DOID:0110135",
                    "label": "Bardet-Biedl syndrome 13",
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                    "id": "DOID:0110132",
                    "label": "Bardet-Biedl syndrome 10",
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                    "id": "DOID:0110131",
                    "label": "Bardet-Biedl syndrome 9",
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                    "id": "DOID:0110139",
                    "label": "Bardet-Biedl syndrome 17",
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                    "id": "DOID:0110138",
                    "label": "Bardet-Biedl syndrome 16",
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                    "id": "DOID:0110137",
                    "label": "Bardet-Biedl syndrome 15",
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                    "id": "DOID:0110134",
                    "label": "Bardet-Biedl syndrome 12",
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                    "id": "DOID:0110133",
                    "label": "Bardet-Biedl syndrome 11",
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                    "id": "DOID:0110130",
                    "label": "Bardet-Biedl syndrome 8",
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                    "id": "DOID:0110141",
                    "label": "Bardet-Biedl syndrome 19",
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                    "id": "DOID:0081009",
                    "label": "Bardet-Biedl syndrome 20",
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                    "id": "DOID:0110128",
                    "label": "Bardet-Biedl syndrome 6",
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                    "id": "DOID:0110129",
                    "label": "Bardet-Biedl syndrome 7",
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                    "id": "DOID:0110125",
                    "label": "Bardet-Biedl syndrome 3",
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                    "id": "DOID:0110124",
                    "label": "Bardet-Biedl syndrome 2",
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                    "id": "DOID:0110126",
                    "label": "Bardet-Biedl syndrome 4",
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                    "id": "DOID:0110127",
                    "label": "Bardet-Biedl syndrome 5",
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                    "id": "DOID:0110123",
                    "label": "Bardet-Biedl syndrome 1",
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                    "id": "DOID:0110140",
                    "label": "Bardet-Biedl syndrome 18",
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                    "label": "Wolman disease",
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            "id": "DOID:0111646",
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            "id": "DOID:0070203",
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            "id": "DOID:0070206",
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            "id": "DOID:0060744",
            "label": "Pendred Syndrome",
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            "id": "DOID:0060835",
            "label": "isolated microphthalmia 6",
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            "id": "DOID:2222",
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            "children": []
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            "id": "DOID:13777",
            "label": "epidermodysplasia verruciformis",
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            "id": "DOID:0111258",
            "label": "pentosuria",
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            "id": "DOID:0111255",
            "label": "McKusick-Kaufman syndrome",
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            "id": "DOID:0060021",
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            "id": "DOID:0060025",
            "label": "immunoglobulin alpha deficiency",
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            "id": "DOID:0060689",
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            "id": "DOID:0110675",
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            "label": "combined oxidative phosphorylation deficiency 57",
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            "id": "DOID:0080335",
            "label": "mitochondrial DNA depletion syndrome 12b",
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            "id": "DOID:0060973",
            "label": "WHIM syndrome 2",
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            "children": []
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            "id": "DOID:0060974",
            "label": "autosomal recessive Robinow syndrome 2",
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            "children": []
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            "id": "DOID:0060979",
            "label": "Fanconi anemia complementation group S",
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            "id": "DOID:0060978",
            "label": "Fanconi anemia complementation group W",
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            "children": []
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        {
            "id": "DOID:0061088",
            "label": "immunodeficiency 122",
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            "children": []
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            "id": "DOID:0061089",
            "label": "immunodeficiency 123",
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            "children": []
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            "id": "DOID:0061080",
            "label": "immunodeficiency 114",
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            "children": []
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        {
            "id": "DOID:0061081",
            "label": "immunodeficiency 115",
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            "children": []
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        {
            "id": "DOID:0061082",
            "label": "immunodeficiency 116",
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            "children": []
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            "id": "DOID:0061085",
            "label": "immunodeficiency 119",
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            "children": []
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        {
            "id": "DOID:0061086",
            "label": "immunodeficiency 120",
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            "children": []
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            "id": "DOID:0061111",
            "label": "retinitis pigmentosa 80",
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            "children": []
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            "id": "DOID:0060707",
            "label": "lymphoproliferative syndrome 1",
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            "children": []
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            "id": "DOID:0060708",
            "label": "lymphoproliferative syndrome 2",
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            "children": []
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            "id": "DOID:0110065",
            "label": "amelogenesis imperfecta type 1F",
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            "children": []
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            "id": "DOID:0110064",
            "label": "amelogenesis imperfecta type 1H",
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            "children": []
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            "id": "DOID:0110060",
            "label": "amelogenesis imperfecta hypomaturation type 2A2",
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            "children": []
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            "id": "DOID:0111620",
            "label": "corneal dystrophy-perceptive deafness syndrome",
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            "children": []
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            "id": "DOID:0111621",
            "label": "Temtamy syndrome",
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            "children": []
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            "id": "DOID:0111625",
            "label": "ventriculomegaly - cystic kidney disease",
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            "children": []
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            "id": "DOID:0111626",
            "label": "D-glyceric aciduria",
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            "children": []
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        {
            "id": "DOID:0111627",
            "label": "DOORS syndrome",
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            "children": []
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            "id": "DOID:0111628",
            "label": "high myopia-sensorineural deafness syndrome",
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            "children": []
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            "id": "DOID:0111629",
            "label": "dihydropyrimidinase deficiency",
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            "children": []
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            "id": "DOID:0070226",
            "label": "progressive familial intrahepatic cholestasis 1",
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            "children": []
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            "id": "DOID:0070224",
            "label": "progressive familial intrahepatic cholestasis 4",
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            "children": []
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        {
            "id": "DOID:0070225",
            "label": "progressive familial intrahepatic cholestasis 5",
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            "children": []
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            "id": "DOID:0070222",
            "label": "progressive familial intrahepatic cholestasis 2",
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            "children": []
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        {
            "id": "DOID:0070223",
            "label": "progressive familial intrahepatic cholestasis 3",
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            "children": []
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            "id": "DOID:0081124",
            "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1",
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            "children": []
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        {
            "id": "DOID:0081129",
            "label": "mandibuloacral dysplasia type B lipodystrophy",
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            "children": []
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            "id": "DOID:5325",
            "label": "Roberts syndrome",
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            "children": []
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            "id": "DOID:0060764",
            "label": "autosomal recessive Robinow syndrome",
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            "children": []
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            "id": "DOID:0060769",
            "label": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
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            "children": []
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        {
            "id": "DOID:0110728",
            "label": "neuronal ceroid lipofuscinosis 5",
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            "children": []
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        {
            "id": "DOID:0110729",
            "label": "neuronal ceroid lipofuscinosis 6A",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110722",
            "label": "neuronal ceroid lipofuscinosis 7",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110723",
            "label": "neuronal ceroid lipofuscinosis 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110721",
            "label": "neuronal ceroid lipofuscinosis 1",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110727",
            "label": "neuronal ceroid lipofuscinosis 13",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110724",
            "label": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110725",
            "label": "neuronal ceroid lipofuscinosis 10",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112382",
            "label": "muscular dystrophy-dystroglycanopathy type C8",
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            "children": []
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        {
            "id": "DOID:0112380",
            "label": "muscular dystrophy-dystroglycanopathy type B2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112381",
            "label": "muscular dystrophy-dystroglycanopathy type C12",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080274",
            "label": "multiple mitochondrial dysfunctions syndrome 5",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080272",
            "label": "nephrotic syndrome type 16",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080271",
            "label": "nephrotic syndrome type 15",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060959",
            "label": "orofaciodigital syndrome II",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060958",
            "label": "orofaciodigital syndrome XIV",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060950",
            "label": "hypervalinemia and hyperleucine-isoleucinemia",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060955",
            "label": "dystonia 35, childhood-onset",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060956",
            "label": "dystonia 37, early-onset with striatal lesions",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111836",
            "label": "congenital nongoitrous hypothyroidism 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110267",
            "label": "cataract 44",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110266",
            "label": "cataract 9 multiple types",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110264",
            "label": "cataract 33",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110263",
            "label": "cataract 19 multiple types",
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            "label": "cataract 22 multiple types",
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                    "id": "DOID:0110851",
                    "label": "rhizomelic chondrodysplasia punctata type 1",
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                    "label": "rhizomelic chondrodysplasia punctata type 2",
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                    "id": "DOID:0110853",
                    "label": "rhizomelic chondrodysplasia punctata type 3",
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                    "id": "DOID:0081243",
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            "id": "DOID:0080251",
            "label": "erythrokeratodermia variabilis et progressiva 5",
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            "id": "DOID:0080253",
            "label": "Meckel syndrome 13",
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            "id": "DOID:0080254",
            "label": "orofaciodigital syndrome XVI",
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            "id": "DOID:0080255",
            "label": "Meier-Gorlin syndrome 8",
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            "id": "DOID:0110003",
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                    "id": "DOID:0081134",
                    "label": "3-methylglutaconic aciduria type 7b",
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                    "id": "DOID:0081133",
                    "label": "3-methylglutaconic aciduria type 7a",
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            "id": "DOID:0110002",
            "label": "3-methylglutaconic aciduria type 1",
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            "id": "DOID:0110001",
            "label": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
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            "id": "DOID:0110000",
            "label": "3-methylglutaconic aciduria type 5",
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            "id": "DOID:0110007",
            "label": "achromatopsia 2",
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            "id": "DOID:0110005",
            "label": "Leber congenital amaurosis 9",
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            "children": []
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            "id": "DOID:0110004",
            "label": "3-methylglutaconic aciduria type 3",
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            "children": []
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            "id": "DOID:0110009",
            "label": "achromatopsia 7",
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            "children": []
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            "id": "DOID:0110008",
            "label": "achromatopsia 3",
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            "children": []
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            "id": "DOID:0050797",
            "label": "peroxisomal acyl-CoA oxidase deficiency",
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            "id": "DOID:0050790",
            "label": "fibular hypoplasia and complex brachydactyly",
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            "children": []
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            "id": "DOID:0111351",
            "label": "D-2-hydroxyglutaric aciduria 1",
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            "id": "DOID:0050427",
            "label": "xeroderma pigmentosum",
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                    "id": "DOID:0110850",
                    "label": "xeroderma pigmentosum group B",
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                    "id": "DOID:0112158",
                    "label": "De Sanctis-Cacchione syndrome",
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                    "id": "DOID:0110847",
                    "label": "xeroderma pigmentosum variant type",
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                    "children": []
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                    "id": "DOID:0110846",
                    "label": "xeroderma pigmentosum group E",
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                    "children": []
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                    "id": "DOID:0110845",
                    "label": "xeroderma pigmentosum group D",
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                    "children": []
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                    "id": "DOID:0110844",
                    "label": "xeroderma pigmentosum group C",
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                    "children": []
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                    "id": "DOID:0110843",
                    "label": "xeroderma pigmentosum group A",
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                    "id": "DOID:0110849",
                    "label": "xeroderma pigmentosum group G",
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                    "id": "DOID:0110848",
                    "label": "xeroderma pigmentosum group F",
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            "id": "DOID:0111591",
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            "children": []
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            "id": "DOID:0080424",
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            "label": "hereditary spastic paraplegia 51",
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            "children": []
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            "id": "DOID:0110801",
            "label": "hereditary spastic paraplegia 49",
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            "children": []
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            "id": "DOID:0110740",
            "label": "neurodegeneration with brain iron accumulation 6",
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            "children": []
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            "id": "DOID:0110806",
            "label": "hereditary spastic paraplegia 54",
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            "children": []
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            "id": "DOID:0090141",
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            "children": []
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            "id": "DOID:0090143",
            "label": "brachyolmia-amelogenesis imperfecta syndrome",
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            "children": []
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            "id": "DOID:0090142",
            "label": "cystathioninuria",
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            "children": []
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            "id": "DOID:0090144",
            "label": "Donnai-Barrow syndrome",
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            "children": []
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            "id": "DOID:0110819",
            "label": "hereditary spastic paraplegia 74",
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            "children": []
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            "id": "DOID:0110810",
            "label": "hereditary spastic paraplegia 5A",
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            "children": []
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            "id": "DOID:0110812",
            "label": "hereditary spastic paraplegia 61",
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            "children": []
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            "id": "DOID:0110813",
            "label": "hereditary spastic paraplegia 62",
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            "children": []
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            "id": "DOID:0110814",
            "label": "hereditary spastic paraplegia 63",
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            "children": []
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            "id": "DOID:0110815",
            "label": "hereditary spastic paraplegia 64",
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            "children": []
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            "id": "DOID:0110816",
            "label": "hereditary spastic paraplegia 7",
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            "children": []
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            "id": "DOID:0110817",
            "label": "hereditary spastic paraplegia 72A",
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            "children": []
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            "id": "DOID:0070388",
            "label": "developmental and epileptic encephalopathy 102",
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            "children": []
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            "id": "DOID:0070382",
            "label": "developmental and epileptic encephalopathy 95",
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            "children": []
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            "id": "DOID:0070387",
            "label": "developmental and epileptic encephalopathy 101",
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            "label": "spermatogenic failure 18",
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            "id": "DOID:0070167",
            "label": "spermatogenic failure 6",
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            "children": []
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            "id": "DOID:0070166",
            "label": "spermatogenic failure 20",
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            "children": []
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            "id": "DOID:0070163",
            "label": "spermatogenic failure 21",
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            "children": []
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            "id": "DOID:0111594",
            "label": "distal arthrogryposis type 5D",
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            "children": []
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            "id": "DOID:0060639",
            "label": "permanent neonatal diabetes mellitus",
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            "children": []
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            "id": "DOID:0110249",
            "label": "cataract 11 multiple types",
            "link_status": true,
            "children": []
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            "id": "DOID:0110245",
            "label": "cataract 38",
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            "children": []
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            "id": "DOID:0110247",
            "label": "cataract 36",
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            "children": []
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            "id": "DOID:0110243",
            "label": "cataract 46 juvenile-onset",
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            "id": "DOID:0110242",
            "label": "cataract 13 with adult i phenotype",
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            "children": []
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                    "id": "DOID:0070364",
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                    "id": "DOID:0070363",
                    "label": "bradyopsia 1",
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            "id": "DOID:0112081",
            "label": "nuclear type mitochondrial complex I deficiency 8",
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            "children": []
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            "id": "DOID:0112080",
            "label": "nuclear type mitochondrial complex I deficiency 32",
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            "children": []
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            "id": "DOID:0112083",
            "label": "nuclear type mitochondrial complex I deficiency 2",
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            "children": []
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            "id": "DOID:0112082",
            "label": "nuclear type mitochondrial complex I deficiency 4",
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            "children": []
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        {
            "id": "DOID:0112085",
            "label": "nuclear type mitochondrial complex I deficiency 19",
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            "children": []
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            "id": "DOID:0112084",
            "label": "nuclear type mitochondrial complex I deficiency 29",
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            "children": []
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            "id": "DOID:0112087",
            "label": "nuclear type mitochondrial complex I deficiency 23",
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            "children": []
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        {
            "id": "DOID:0112086",
            "label": "nuclear type mitochondrial complex I deficiency 26",
            "link_status": true,
            "children": []
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            "id": "DOID:0112089",
            "label": "nuclear type mitochondrial complex I deficiency 11",
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            "children": []
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            "id": "DOID:0112088",
            "label": "nuclear type mitochondrial complex I deficiency 21",
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            "children": []
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            "id": "DOID:0111197",
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                    "id": "DOID:0111214",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 5",
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                    "id": "DOID:0111213",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 4",
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                    "children": []
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                    "id": "DOID:0081428",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 9",
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                    "children": []
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                {
                    "id": "DOID:0081429",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 10",
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                    "children": []
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                {
                    "id": "DOID:0081425",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 6",
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                    "children": []
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                    "id": "DOID:0081426",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 7",
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                    "children": []
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                    "id": "DOID:0081427",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 8",
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                    "children": []
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                    "id": "DOID:0111064",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 1",
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                    "children": []
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                    "id": "DOID:0111065",
                    "label": "autosomal recessive distal hereditary motor neuronopathy 2",
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                    "children": []
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        {
            "id": "DOID:0111195",
            "label": "erythrokeratodermia variabilis et progressiva 1",
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            "children": []
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            "id": "DOID:0111378",
            "label": "fetal akinesia deformation sequence syndrome 2",
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            "children": []
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            "id": "DOID:0111379",
            "label": "fetal akinesia deformation sequence syndrome 4",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111371",
            "label": "isolated hyperchlorhidrosis",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111376",
            "label": "fetal akinesia deformation sequence syndrome 3",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111377",
            "label": "fetal akinesia deformation sequence syndrome 1",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0050441",
            "label": "mucosulfatidosis",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070594",
            "label": "spermatogenic failure 95",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070590",
            "label": "spermatogenic failure 91",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070591",
            "label": "spermatogenic failure 92",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070592",
            "label": "spermatogenic failure 93",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070593",
            "label": "spermatogenic failure 94",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060854",
            "label": "autosomal recessive pseudohypoaldosteronism type 1",
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            "children": []
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        {
            "id": "DOID:0060856",
            "label": "right atrial isomerism",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060852",
            "label": "Pierson syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061109",
            "label": "retinitis pigmentosa 98",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061103",
            "label": "retinitis pigmentosa 76",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061102",
            "label": "hypertrophic cardiomyopathy 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061105",
            "label": "retinitis pigmentosa 93",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061107",
            "label": "retinitis pigmentosa 92",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111978",
            "label": "immunodeficiency 65",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111974",
            "label": "immunodeficiency 59",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111975",
            "label": "immunodeficiency 44",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111976",
            "label": "immunodeficiency 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111977",
            "label": "immunodeficiency 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111970",
            "label": "immunodeficiency 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111971",
            "label": "immunodeficiency 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111972",
            "label": "immunodeficiency 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111973",
            "label": "immunodeficiency 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14501",
            "label": "Sjogren-Larsson syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080592",
            "label": "Klippel-Feil syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080590",
            "label": "Klippel-Feil syndrome 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080596",
            "label": "hyper IgE recurrent infection syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080595",
            "label": "hyper IgE recurrent infection syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080594",
            "label": "hyper IgE recurrent infection syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080172",
            "label": "poor metabolism of thiopurines",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0060996",
                    "label": "poor metabolism of thiopurines 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0061004",
                    "label": "poor metabolism of thiopurines 1",
                    "link_status": true,
                    "children": []
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        },
        {
            "id": "DOID:0110768",
            "label": "hereditary spastic paraplegia 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080738",
            "label": "Ehlers-Danlos syndrome spondylodysplastic type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111414",
            "label": "trichohepatoenteric syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111416",
                    "label": "trichohepatoenteric syndrome 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111415",
                    "label": "trichohepatoenteric syndrome 1",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0070369",
            "label": "restrictive dermopathy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070368",
            "label": "autosomal recessive chronic granulomatous disease 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060193",
            "label": "amyotrophic lateral sclerosis type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060449",
            "label": "gelatinous drop-like corneal dystrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060994",
            "label": "encephalopathy due to defective mitochondrial and peroxisomal fission 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060990",
            "label": "congenital disorder of deglycosylation 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060993",
            "label": "bent bone dysplasia syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110899",
            "label": "inflammatory bowel disease 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050462",
            "label": "Antley-Bixler syndrome with disordered steroidogenesis",
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            "id": "DOID:0111952",
            "label": "immunodeficiency 57",
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            "id": "DOID:0111953",
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            "label": "immunodeficiency 29",
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            "label": "immunodeficiency 40",
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            "id": "DOID:0111789",
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            "id": "DOID:0081396",
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            "id": "DOID:0081394",
            "label": "Caroli syndrome",
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            "id": "DOID:0081395",
            "label": "Harel-Yoon syndrome",
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            "id": "DOID:0060601",
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            "id": "DOID:0070539",
            "label": "Halperin-Birk syndrome",
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            "id": "DOID:0110201",
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            "id": "DOID:0110203",
            "label": "Charcot-Marie-Tooth disease recessive intermediate D",
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            "id": "DOID:0110204",
            "label": "Charcot-Marie-Tooth disease recessive intermediate B",
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            "id": "DOID:14694",
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            "id": "DOID:14699",
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            "id": "DOID:0080360",
            "label": "mitochondrial complex IV deficiency nuclear type 13",
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            "id": "DOID:0080361",
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            "id": "DOID:0080363",
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            "id": "DOID:0111337",
            "label": "Jackson-Weiss syndrome",
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            "id": "DOID:0111334",
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            "id": "DOID:0111332",
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            "id": "DOID:0111333",
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            "children": []
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            "id": "DOID:0112153",
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            "children": []
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            "id": "DOID:0112152",
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            "id": "DOID:0070341",
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            "id": "DOID:0111934",
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            "id": "DOID:0111935",
            "label": "immunodeficiency 16",
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            "id": "DOID:0111937",
            "label": "immunodeficiency 22",
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            "children": []
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            "id": "DOID:0111939",
            "label": "immunodeficiency 37",
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            "id": "DOID:2211",
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            "id": "DOID:0080731",
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            "id": "DOID:0080556",
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            "id": "DOID:0110410",
            "label": "retinitis pigmentosa 69",
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            "id": "DOID:1386",
            "label": "abetalipoproteinemia",
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            "id": "DOID:0080559",
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            "label": "congenital disorder of glycosylation If",
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            "label": "spondylometaphyseal dysplasia with corneal dystrophy",
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            "id": "DOID:0112300",
            "label": "spondylometaphyseal dysplasia with cone-rod dystrophy",
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            "children": []
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            "id": "DOID:0112306",
            "label": "Mahvash Disease",
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            "children": []
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            "id": "DOID:0112307",
            "label": "sarcosinemia",
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            "id": "DOID:0112304",
            "label": "spondylometaphyseal dysplasia Megarbane-Dagher-Melike type",
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            "id": "DOID:0080082",
            "label": "nonsyndromic congenital nail disorder 4",
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            "id": "DOID:0050812",
            "label": "spondyloepimetaphyseal dysplasia, Pakistani type",
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            "id": "DOID:0050816",
            "label": "urofacial syndrome",
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            "id": "DOID:0050814",
            "label": "temtamy preaxial brachydactyly syndrome",
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            "id": "DOID:0111453",
            "label": "2-aminoadipic 2-oxoadipic aciduria",
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            "id": "DOID:0111452",
            "label": "progressive myoclonus epilepsy 1A",
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            "children": []
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            "id": "DOID:0111451",
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            "children": []
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            "id": "DOID:0111456",
            "label": "Kaufman oculocerebrofacial syndrome",
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            "id": "DOID:0111455",
            "label": "GRACILE syndrome",
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            "label": "Hermansky-Pudlak syndrome",
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                    "id": "DOID:0060543",
                    "label": "Hermansky-Pudlak syndrome 5",
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                    "id": "DOID:0060540",
                    "label": "Hermansky-Pudlak syndrome 2",
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                    "id": "DOID:0060541",
                    "label": "Hermansky-Pudlak syndrome 3",
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                    "id": "DOID:0060544",
                    "label": "Hermansky-Pudlak syndrome 6",
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                    "id": "DOID:0060545",
                    "label": "Hermansky-Pudlak syndrome 7",
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                    "id": "DOID:0060546",
                    "label": "Hermansky-Pudlak syndrome 8",
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                    "id": "DOID:0060547",
                    "label": "Hermansky-Pudlak syndrome 9",
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                    "id": "DOID:0060539",
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            "id": "DOID:0070491",
            "label": "mitochondrial complex IV deficiency nuclear type 1",
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            "children": []
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            "id": "DOID:0070493",
            "label": "mitochondrial complex IV deficiency nuclear type 4",
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            "children": []
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            "id": "DOID:0070492",
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            "children": []
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            "id": "DOID:0070495",
            "label": "mitochondrial complex IV deficiency nuclear type 8",
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            "children": []
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            "id": "DOID:0070494",
            "label": "mitochondrial complex IV deficiency nuclear type 7",
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            "children": []
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            "id": "DOID:0070497",
            "label": "mitochondrial complex IV deficiency nuclear type 11",
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            "children": []
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            "id": "DOID:0070496",
            "label": "mitochondrial complex IV deficiency nuclear type 10",
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            "children": []
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            "id": "DOID:0070499",
            "label": "mitochondrial complex IV deficiency nuclear type 14",
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            "children": []
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            "id": "DOID:0070498",
            "label": "mitochondrial complex IV deficiency nuclear type 12",
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            "label": "spondyloepimetaphyseal dysplasia, Sponastrime type",
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            "id": "DOID:0060484",
            "label": "EAST syndrome",
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            "children": []
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            "id": "DOID:0060481",
            "label": "Goldberg-Shprintzen syndrome",
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            "children": []
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            "label": "anauxetic dysplasia 2",
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            "children": []
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            "id": "DOID:0080963",
            "label": "anauxetic dysplasia 3",
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            "id": "DOID:0080960",
            "label": "amelogenesis imperfecta type 2A6",
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            "children": []
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            "id": "DOID:0110080",
            "label": "Leber congenital amaurosis 12",
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            "children": []
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            "id": "DOID:0110087",
            "label": "asphyxiating thoracic dystrophy 3",
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            "children": []
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            "children": []
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            "label": "asphyxiating thoracic dystrophy 1",
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            "id": "DOID:0050600",
            "label": "ABCD syndrome",
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            "children": []
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            "id": "DOID:0111131",
            "label": "focal segmental glomerulosclerosis 6",
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            "children": []
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            "id": "DOID:0111134",
            "label": "focal segmental glomerulosclerosis 9",
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            "children": []
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            "id": "DOID:0080349",
            "label": "developmental and epileptic encephalopathy 39",
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            "children": []
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            "id": "DOID:0050710",
            "label": "3-methylcrotonyl-CoA carboxylase deficiency",
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                    "id": "DOID:0080579",
                    "label": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
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                    "children": []
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                    "id": "DOID:0080580",
                    "label": "3-methylcrotonyl-CoA carboxylase 2 deficiency",
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            "id": "DOID:0050711",
            "label": "aceruloplasminemia",
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            "children": []
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            "id": "DOID:0110629",
            "label": "Wolfram syndrome 1",
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            "children": []
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            "id": "DOID:0111680",
            "label": "essential fructosuria",
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            "children": []
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            "id": "DOID:0111681",
            "label": "congenital nonspherocytic hemolytic anemia 7",
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            "children": []
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            "id": "DOID:0112175",
            "label": "spermatogenic failure 47",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112174",
            "label": "combined deficiency of vitamin K-dependent clotting factors 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112176",
            "label": "spermatogenic failure 48",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112171",
            "label": "wrinkly skin syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112173",
            "label": "combined deficiency of vitamin K-dependent clotting factors 1",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060348",
            "label": "hypoparathyroidism-retardation-dysmorphism syndrome",
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            "children": []
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            "id": "DOID:0060839",
            "label": "isolated microphthalmia 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060346",
            "label": "Native American myopathy",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111918",
            "label": "spermatogenic failure 40",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111919",
            "label": "spermatogenic failure 38",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111916",
            "label": "spermatogenic failure 28",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111917",
            "label": "spermatogenic failure 43",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111914",
            "label": "spermatogenic failure 35",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111915",
            "label": "spermatogenic failure 33",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111912",
            "label": "spermatogenic failure 41",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111913",
            "label": "spermatogenic failure 30",
            "link_status": true,
            "children": []
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        {
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            "label": "spermatogenic failure 34",
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            "id": "DOID:0080575",
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            "id": "DOID:0080570",
            "label": "congenital disorder of glycosylation It",
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            "id": "DOID:0080573",
            "label": "congenital disorder of glycosylation Ix",
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            "id": "DOID:0080572",
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            "id": "DOID:0112360",
            "label": "spondylocostal dysostosis 6",
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            "id": "DOID:0112364",
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            "id": "DOID:0070302",
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            "id": "DOID:0050529",
            "label": "adult spinal muscular atrophy",
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            "label": "nonphotosensitive trichothiodystrophy 4",
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            "id": "DOID:0111479",
            "label": "combined oxidative phosphorylation deficiency 8",
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            "id": "DOID:0111478",
            "label": "combined oxidative phosphorylation deficiency 20",
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            "id": "DOID:0111471",
            "label": "combined oxidative phosphorylation deficiency 30",
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            "id": "DOID:0111470",
            "label": "combined oxidative phosphorylation deficiency 28",
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            "id": "DOID:0111473",
            "label": "combined oxidative phosphorylation deficiency 5",
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            "id": "DOID:0111472",
            "label": "combined oxidative phosphorylation deficiency 9",
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            "id": "DOID:0111475",
            "label": "combined oxidative phosphorylation deficiency 39",
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            "id": "DOID:0111474",
            "label": "combined oxidative phosphorylation deficiency 1",
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            "id": "DOID:0111477",
            "label": "combined oxidative phosphorylation deficiency 14",
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            "id": "DOID:0111476",
            "label": "combined oxidative phosphorylation deficiency 19",
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            "id": "DOID:0060642",
            "label": "recessive dystrophic epidermolysis bullosa",
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            "id": "DOID:0060649",
            "label": "congenital hereditary endothelial dystrophy of cornea",
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            "id": "DOID:0112218",
            "label": "developmental and epileptic encephalopathy 83",
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            "id": "DOID:0081240",
            "label": "peroxisome biogenesis disorder 1B",
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            "id": "DOID:0081241",
            "label": "peroxisome biogenesis disorder 3B",
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            "id": "DOID:0112212",
            "label": "developmental and epileptic encephalopathy 76",
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            "id": "DOID:0080327",
            "label": "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly",
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            "id": "DOID:0112216",
            "label": "developmental and epileptic encephalopathy 80",
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            "children": []
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            "id": "DOID:0112113",
            "label": "combined oxidative phosphorylation deficiency 45",
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            "children": []
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            "id": "DOID:0112112",
            "label": "combined oxidative phosphorylation deficiency 48",
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            "children": []
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            "id": "DOID:0112111",
            "label": "combined oxidative phosphorylation deficiency 50",
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            "children": []
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            "id": "DOID:0112110",
            "label": "combined oxidative phosphorylation deficiency 49",
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            "children": []
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            "id": "DOID:0112117",
            "label": "combined oxidative phosphorylation deficiency 40",
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            "children": []
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            "id": "DOID:0112116",
            "label": "combined oxidative phosphorylation deficiency 43",
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            "children": []
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            "id": "DOID:0112115",
            "label": "combined oxidative phosphorylation deficiency 46",
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            "children": []
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            "id": "DOID:0112114",
            "label": "combined oxidative phosphorylation deficiency 47",
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            "children": []
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            "id": "DOID:0112119",
            "label": "combined oxidative phosphorylation deficiency 41",
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            "children": []
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            "id": "DOID:0112118",
            "label": "combined oxidative phosphorylation deficiency 42",
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            "id": "DOID:0060589",
            "label": "Yunis-Varon syndrome",
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            "id": "DOID:0060580",
            "label": "Noonan syndrome 2",
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            "id": "DOID:0070510",
            "label": "inflammatory poikiloderma with hair abnormalities and acral keratoses",
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            "id": "DOID:0070511",
            "label": "polyhydramnios, megalencephaly, and symptomatic epilepsy",
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            "id": "DOID:0081034",
            "label": "glutatione synthetase deficiency with 5-oxoprolinuria",
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            "id": "DOID:0060368",
            "label": "Parkinson's disease 2",
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            "id": "DOID:0060369",
            "label": "Parkinson's disease 6",
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            "id": "DOID:0060364",
            "label": "Galloway-Mowat syndrome 1",
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            "id": "DOID:0080312",
            "label": "neurodevelopmental disorder with midbrain and hindbrain malformations",
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            "id": "DOID:0080518",
            "label": "Meier-Gorlin syndrome 7",
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            "children": []
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            "id": "DOID:0080513",
            "label": "Meier-Gorlin syndrome 2",
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            "id": "DOID:0080512",
            "label": "Meier-Gorlin syndrome 1",
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            "children": []
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            "id": "DOID:0080516",
            "label": "Meier-Gorlin syndrome 5",
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            "children": []
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            "id": "DOID:0080515",
            "label": "Meier-Gorlin syndrome 4",
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            "children": []
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            "id": "DOID:0080514",
            "label": "Meier-Gorlin syndrome 3",
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            "id": "DOID:0112346",
            "label": "hereditary spastic paraplegia 83",
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            "children": []
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            "id": "DOID:0112347",
            "label": "hereditary spastic paraplegia 84",
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            "children": []
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            "id": "DOID:0112344",
            "label": "hereditary spastic paraplegia 79B",
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            "children": []
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            "id": "DOID:0112345",
            "label": "hereditary spastic paraplegia 85",
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            "children": []
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            "id": "DOID:0112342",
            "label": "hereditary spastic paraplegia 86",
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            "children": []
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            "id": "DOID:0112343",
            "label": "hereditary spastic paraplegia 82",
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            "children": []
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            "id": "DOID:0112340",
            "label": "craniotubular dysplasia Ikegawa type",
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            "children": []
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            "id": "DOID:0112348",
            "label": "hereditary spastic paraplegia 78",
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            "children": []
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            "id": "DOID:0112349",
            "label": "hereditary spastic paraplegia 81",
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            "children": []
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            "id": "DOID:0080922",
            "label": "bilateral frontoparietal polymicrogyria",
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            "children": []
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            "id": "DOID:0080925",
            "label": "cytochrome P450 oxidoreductase deficiency",
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            "children": []
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            "id": "DOID:0111497",
            "label": "combined oxidative phosphorylation deficiency 34",
            "link_status": true,
            "children": []
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            "id": "DOID:0111496",
            "label": "combined oxidative phosphorylation deficiency 17",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111495",
            "label": "combined oxidative phosphorylation deficiency 33",
            "link_status": true,
            "children": []
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            "id": "DOID:0111494",
            "label": "combined oxidative phosphorylation deficiency 4",
            "link_status": true,
            "children": []
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            "id": "DOID:0111493",
            "label": "combined oxidative phosphorylation deficiency 12",
            "link_status": true,
            "children": []
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            "id": "DOID:0111492",
            "label": "combined oxidative phosphorylation deficiency 32",
            "link_status": true,
            "children": []
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            "id": "DOID:0111491",
            "label": "combined oxidative phosphorylation deficiency 15",
            "link_status": true,
            "children": []
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            "id": "DOID:0111490",
            "label": "combined oxidative phosphorylation deficiency 26",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111499",
            "label": "combined oxidative phosphorylation deficiency 37",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111498",
            "label": "combined oxidative phosphorylation deficiency 22",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070183",
            "label": "spermatogenic failure 5",
            "link_status": true,
            "children": []
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            "id": "DOID:0070182",
            "label": "spermatogenic failure 13",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070181",
            "label": "spermatogenic failure 23",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070184",
            "label": "spermatogenic failure 16",
            "link_status": true,
            "children": []
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            "id": "DOID:0110079",
            "label": "Leber congenital amaurosis 8",
            "link_status": true,
            "children": []
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            "id": "DOID:0081269",
            "label": "pulmonary venoocclusive disease 2",
            "link_status": true,
            "children": []
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            "id": "DOID:2368",
            "label": "gangliosidosis",
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                    "id": "DOID:3321",
                    "label": "GM2 gangliosidosis",
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                    "children": [
                        {
                            "id": "DOID:3320",
                            "label": "Tay-Sachs disease",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:3323",
                            "label": "Sandhoff disease",
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                            "children": []
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                        {
                            "id": "DOID:4795",
                            "label": "GM2 gangliosidosis, AB variant",
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                            "children": []
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                    "id": "DOID:3322",
                    "label": "GM1 gangliosidosis",
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                            "id": "DOID:0080501",
                            "label": "GM1 gangliosidosis type 2",
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                            "children": []
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                            "id": "DOID:0080489",
                            "label": "GM1 gangliosidosis type 3",
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                            "children": []
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                        {
                            "id": "DOID:0080502",
                            "label": "GM1 gangliosidosis type 1",
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                            "children": []
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        {
            "id": "DOID:0110662",
            "label": "congenital myasthenic syndrome 1B",
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            "children": []
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            "id": "DOID:0110661",
            "label": "congenital myasthenic syndrome 20",
            "link_status": true,
            "children": []
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            "id": "DOID:0110660",
            "label": "congenital myasthenic syndrome 12",
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            "children": []
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            "id": "DOID:0110667",
            "label": "congenital myasthenic syndrome 5",
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            "children": []
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            "id": "DOID:0110665",
            "label": "congenital myasthenic syndrome 3B",
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            "children": []
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        {
            "id": "DOID:0110664",
            "label": "congenital myasthenic syndrome 3C",
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            "children": []
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            "id": "DOID:0110669",
            "label": "congenital myasthenic syndrome 14",
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            "children": []
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            "id": "DOID:0110668",
            "label": "congenital myasthenic syndrome 10",
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            "children": []
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            "id": "DOID:0111398",
            "label": "congenital dyserythropoietic anemia type Ia",
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            "children": []
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            "id": "DOID:0111869",
            "label": "photosensitive trichothiodystrophy 2",
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            "children": []
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        {
            "id": "DOID:0111390",
            "label": "mucopolysaccharidosis Ih",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111391",
            "label": "mucopolysaccharidosis IVA",
            "link_status": true,
            "children": []
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            "id": "DOID:0111392",
            "label": "mucopolysaccharidosis type IVB",
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            "children": []
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        {
            "id": "DOID:0111393",
            "label": "mucopolysaccharidosis type IIIC",
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            "children": []
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        {
            "id": "DOID:0111394",
            "label": "mucopolysaccharidosis type IIIB",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111395",
            "label": "mucopolysaccharidosis type IIIA",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111397",
            "label": "congenital dyserythropoietic anemia type Ib",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112283",
            "label": "spondyloepiphyseal dysplasia Kondo-Fu type",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080308",
            "label": "myofibrillar myopathy 8",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080309",
            "label": "fatal infantile hypertonic myofibrillar myopathy",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112139",
            "label": "nuclear type mitochondrial complex I deficiency 35",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112133",
            "label": "severe congenital neutropenia 3",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112132",
            "label": "severe congenital neutropenia 5",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112134",
            "label": "severe congenital neutropenia 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112137",
            "label": "combined oxidative phosphorylation deficiency 51",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112136",
            "label": "severe congenital neutropenia 4",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070531",
            "label": "foveal hypoplasia 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0081016",
            "label": "congenital fibrosis of the extraocular muscles 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060308",
            "label": "autosomal recessive intellectual developmental disorder",
            "link_status": true,
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                    "id": "DOID:0060935",
                    "label": "infantile hypotonia with psychomotor retardation and characteristic facies-3",
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                    "children": []
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                {
                    "id": "DOID:0060934",
                    "label": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
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                    "children": []
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                {
                    "id": "DOID:0051030",
                    "label": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0070431",
                    "label": "hyperphosphatasia with impaired intellectual development syndrome",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0070433",
                            "label": "hyperphosphatasia with impaired intellectual development syndrome 1",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:0070432",
                            "label": "hyperphosphatasia with impaired intellectual development syndrome 5",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:0070437",
                            "label": "hyperphosphatasia with impaired intellectual development syndrome 6",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070435",
                            "label": "hyperphosphatasia with impaired intellectual development syndrome 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070434",
                            "label": "hyperphosphatasia with impaired intellectual development syndrome 2",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:0070436",
                            "label": "hyperphosphatasia with impaired intellectual development syndrome 4",
                            "link_status": true,
                            "children": []
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                {
                    "id": "DOID:0080239",
                    "label": "autosomal recessive intellectual developmental disorder 61",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0061126",
                    "label": "Brunet-Wagner neurodevelopmental syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0081097",
                    "label": "Rafiq syndrome",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0081099",
                    "label": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0081098",
                    "label": "autosomal recessive intellectual developmental disorder 13",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0081263",
                    "label": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0081265",
                    "label": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",
                    "link_status": true,
                    "children": []
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                    "label": "autosomal recessive intellectual developmental disorder 37",
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                    "label": "autosomal recessive intellectual developmental disorder 38",
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                    "label": "autosomal recessive intellectual developmental disorder 39",
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                    "label": "autosomal recessive intellectual developmental disorder 40",
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                    "label": "autosomal recessive intellectual developmental disorder 41",
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                    "label": "autosomal recessive intellectual developmental disorder 43",
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                    "label": "autosomal recessive intellectual developmental disorder 44",
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                    "label": "autosomal recessive intellectual developmental disorder 45",
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                    "id": "DOID:0081193",
                    "label": "autosomal recessive intellectual developmental disorder 27",
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                    "id": "DOID:0081228",
                    "label": "autosomal recessive intellectual developmental disorder 67",
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                    "label": "autosomal recessive intellectual developmental disorder 68",
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                    "label": "autosomal recessive intellectual developmental disorder 65",
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                    "label": "autosomal recessive intellectual developmental disorder 66",
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                    "label": "autosomal recessive intellectual developmental disorder 63",
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                    "id": "DOID:0081225",
                    "label": "autosomal recessive intellectual developmental disorder 64",
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                    "id": "DOID:0081222",
                    "label": "autosomal recessive intellectual developmental disorder 60",
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                    "id": "DOID:0081223",
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                    "id": "DOID:0081220",
                    "label": "autosomal recessive intellectual developmental disorder 58",
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                    "id": "DOID:0081221",
                    "label": "autosomal recessive intellectual developmental disorder 59",
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                    "id": "DOID:0081210",
                    "label": "autosomal recessive intellectual developmental disorder 46",
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                    "id": "DOID:0081177",
                    "label": "autosomal recessive intellectual developmental disorder 1",
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                    "id": "DOID:0081178",
                    "label": "autosomal recessive intellectual developmental disorder 2",
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                    "label": "autosomal recessive intellectual developmental disorder 3",
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                    "id": "DOID:0070443",
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                    "label": "autosomal recessive intellectual developmental disorder 50",
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                    "label": "autosomal recessive intellectual developmental disorder 48",
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                    "label": "autosomal recessive intellectual developmental disorder 47",
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                    "label": "autosomal recessive intellectual developmental disorder 56",
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                    "label": "autosomal recessive intellectual developmental disorder 54",
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                    "label": "autosomal recessive intellectual developmental disorder 52",
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                    "label": "autosomal recessive intellectual developmental disorder 51",
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                    "label": "autosomal recessive intellectual developmental disorder 57",
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                    "label": "autosomal recessive intellectual developmental disorder 74",
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                    "label": "neurodevelopmental disorder with spastic paraplegia and microcephaly",
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                    "label": "autosomal recessive intellectual developmental disorder 7",
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                    "label": "autosomal recessive intellectual developmental disorder 6",
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                    "label": "autosomal recessive intellectual developmental disorder 5",
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                    "label": "autosomal recessive intellectual developmental disorder 12",
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                    "label": "autosomal recessive intellectual developmental disorder 14",
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                    "label": "autosomal recessive intellectual developmental disorder 70",
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                    "id": "DOID:0081230",
                    "label": "autosomal recessive intellectual developmental disorder 69",
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                    "id": "DOID:0081233",
                    "label": "autosomal recessive intellectual developmental disorder 73",
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                    "id": "DOID:0081232",
                    "label": "autosomal recessive intellectual developmental disorder 71",
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                    "id": "DOID:0081235",
                    "label": "autosomal recessive intellectual developmental disorder 76",
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                    "id": "DOID:0081234",
                    "label": "autosomal recessive intellectual developmental disorder 75",
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                    "id": "DOID:0081236",
                    "label": "autosomal recessive intellectual developmental disorder 77",
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            "id": "DOID:5688",
            "label": "Werner syndrome",
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            "id": "DOID:0090088",
            "label": "hypogonadotropic hypogonadism 24 without anosmia",
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            "id": "DOID:0090089",
            "label": "hypogonadotropic hypogonadism 10 with or without anosmia",
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            "label": "hypogonadotropic hypogonadism 22 with or without anosmia",
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            "label": "Treacher Collins syndrome 2",
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                    "id": "DOID:0110532",
                    "label": "autosomal recessive nonsyndromic deafness 86",
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                    "label": "autosomal recessive nonsyndromic deafness 91",
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                    "label": "autosomal recessive nonsyndromic deafness 97",
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                    "label": "autosomal recessive nonsyndromic deafness 106",
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                    "label": "autosomal recessive nonsyndromic deafness 114",
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                    "label": "autosomal recessive nonsyndromic deafness 115",
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                    "label": "autosomal recessive nonsyndromic deafness 111",
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                    "label": "autosomal recessive nonsyndromic deafness 36",
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                    "label": "autosomal recessive nonsyndromic deafness 37",
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                    "label": "autosomal recessive nonsyndromic deafness 39",
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                    "children": []
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                    "label": "autosomal recessive nonsyndromic deafness 35",
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                    "id": "DOID:0061124",
                    "label": "autosomal recessive nonsyndromic deafness 125",
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                    "id": "DOID:0110475",
                    "label": "autosomal recessive nonsyndromic deafness 1A",
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                    "id": "DOID:0110462",
                    "label": "autosomal recessive nonsyndromic deafness 101",
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                    "label": "autosomal recessive nonsyndromic deafness 104",
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                    "id": "DOID:0110476",
                    "label": "autosomal recessive nonsyndromic deafness 1B",
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                    "children": []
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                    "id": "DOID:0110477",
                    "label": "autosomal recessive nonsyndromic deafness 2",
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                    "id": "DOID:0110473",
                    "label": "autosomal recessive nonsyndromic deafness 18A",
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                    "children": []
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                    "id": "DOID:0110471",
                    "label": "autosomal recessive nonsyndromic deafness 16",
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                    "children": []
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                {
                    "id": "DOID:0110479",
                    "label": "autosomal recessive nonsyndromic deafness 21",
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                    "children": []
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                    "id": "DOID:0080263",
                    "label": "autosomal recessive nonsyndromic deafness 108",
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                    "id": "DOID:0110463",
                    "label": "autosomal recessive nonsyndromic deafness 102",
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                    "children": []
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                    "id": "DOID:0110467",
                    "label": "autosomal recessive nonsyndromic deafness 12",
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                    "id": "DOID:0110540",
                    "label": "autosomal recessive nonsyndromic deafness 98",
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                    "children": []
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                    "id": "DOID:0110506",
                    "label": "autosomal recessive nonsyndromic deafness 49",
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                    "children": []
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                    "id": "DOID:0110505",
                    "label": "autosomal recessive nonsyndromic deafness 48",
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                    "children": []
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                    "id": "DOID:0110511",
                    "label": "autosomal recessive nonsyndromic deafness 59",
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                    "children": []
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                    "id": "DOID:0110513",
                    "label": "autosomal recessive nonsyndromic deafness 61",
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                    "children": []
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                    "id": "DOID:0110512",
                    "label": "autosomal recessive nonsyndromic deafness 6",
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                    "id": "DOID:0110517",
                    "label": "autosomal recessive nonsyndromic deafness 66",
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                    "id": "DOID:0110520",
                    "label": "autosomal recessive nonsyndromic deafness 7",
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                    "children": []
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                    "id": "DOID:0110521",
                    "label": "autosomal recessive nonsyndromic deafness 70",
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                    "id": "DOID:0110523",
                    "label": "autosomal recessive nonsyndromic deafness 74",
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                    "id": "DOID:0110524",
                    "label": "autosomal recessive nonsyndromic deafness 76",
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                    "children": []
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                    "id": "DOID:0110525",
                    "label": "autosomal recessive nonsyndromic deafness 77",
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                    "children": []
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                    "id": "DOID:0110526",
                    "label": "autosomal recessive nonsyndromic deafness 79",
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                    "id": "DOID:0110527",
                    "label": "autosomal recessive nonsyndromic deafness 8",
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                    "children": []
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                    "id": "DOID:0110529",
                    "label": "autosomal recessive nonsyndromic deafness 84A",
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                    "children": []
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                    "label": "autosomal recessive nonsyndromic deafness 53",
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                    "children": []
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                    "label": "autosomal recessive nonsyndromic deafness 42",
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                    "label": "autosomal recessive nonsyndromic deafness 44",
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                    "id": "DOID:0111637",
                    "label": "autosomal recessive nonsyndromic deafness 112",
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                    "label": "autosomal recessive nonsyndromic deafness 113",
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                    "id": "DOID:0111635",
                    "label": "autosomal recessive nonsyndromic deafness 57",
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                    "children": []
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                    "id": "DOID:0111634",
                    "label": "autosomal recessive nonsyndromic deafness 99",
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                    "children": []
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                    "id": "DOID:0111639",
                    "label": "autosomal recessive nonsyndromic deafness 109",
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                    "children": []
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                    "id": "DOID:0111638",
                    "label": "autosomal recessive nonsyndromic deafness 100",
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                    "children": []
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                    "id": "DOID:0110489",
                    "label": "autosomal recessive nonsyndromic deafness 30",
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                    "children": []
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                    "id": "DOID:0110488",
                    "label": "autosomal recessive nonsyndromic deafness 3",
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                    "label": "autosomal recessive nonsyndromic deafness 29",
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                    "children": []
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                    "label": "autosomal recessive nonsyndromic deafness 28",
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                    "children": []
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                    "id": "DOID:0110484",
                    "label": "autosomal recessive nonsyndromic deafness 26",
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                    "children": []
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                    "id": "DOID:0110483",
                    "label": "autosomal recessive nonsyndromic deafness 25",
                    "link_status": true,
                    "children": []
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                    "id": "DOID:0110482",
                    "label": "autosomal recessive nonsyndromic deafness 24",
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                    "children": []
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                    "id": "DOID:0110481",
                    "label": "autosomal recessive nonsyndromic deafness 23",
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                    "children": []
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                    "id": "DOID:0110480",
                    "label": "autosomal recessive nonsyndromic deafness 22",
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                    "children": []
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                {
                    "id": "DOID:0112162",
                    "label": "autosomal recessive nonsyndromic deafness 116",
                    "link_status": true,
                    "children": []
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                    "id": "DOID:0110490",
                    "label": "autosomal recessive nonsyndromic deafness 31",
                    "link_status": true,
                    "children": []
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                    "id": "DOID:0110491",
                    "label": "autosomal recessive nonsyndromic deafness 32",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0110474",
                    "label": "autosomal recessive nonsyndromic deafness 18B",
                    "link_status": true,
                    "children": []
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                    "id": "DOID:0110470",
                    "label": "autosomal recessive nonsyndromic deafness 15",
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                    "children": []
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                    "id": "DOID:0110464",
                    "label": "autosomal recessive nonsyndromic deafness 103",
                    "link_status": true,
                    "children": []
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            "id": "DOID:0090014",
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                    "id": "DOID:0060983",
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                    "id": "DOID:0070634",
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            "id": "DOID:0060797",
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            "id": "DOID:0060796",
            "label": "hypomyelinating leukodystrophy 12",
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            "id": "DOID:0060795",
            "label": "hypomyelinating leukodystrophy 13",
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            "id": "DOID:0060794",
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            "id": "DOID:0060793",
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            "id": "DOID:0060792",
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            "id": "DOID:0060791",
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            "id": "DOID:0060790",
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            "id": "DOID:0110396",
            "label": "retinitis pigmentosa 50",
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            "id": "DOID:0110395",
            "label": "retinitis pigmentosa 72",
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            "id": "DOID:0110399",
            "label": "retinitis pigmentosa 37",
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            "id": "DOID:0080498",
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            "label": "ovarian dysgenesis 7",
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            "id": "DOID:0080496",
            "label": "ovarian dysgenesis 4",
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            "id": "DOID:0080497",
            "label": "ovarian dysgenesis 5",
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            "id": "DOID:0080495",
            "label": "ovarian dysgenesis 3",
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            "id": "DOID:0080493",
            "label": "ovarian dysgenesis 1",
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            "id": "DOID:3534",
            "label": "Lafora disease",
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            "id": "DOID:0080678",
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            "id": "DOID:0080672",
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            "id": "DOID:0111516",
            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4",
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            "id": "DOID:0111515",
            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2",
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            "children": []
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            "id": "DOID:0110056",
            "label": "amelogenesis imperfecta type 1C",
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            "id": "DOID:0110057",
            "label": "amelogenesis imperfecta type 2A1",
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            "id": "DOID:0070554",
            "label": "palmoplantar keratoderma and woolly hair",
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            "id": "DOID:0070555",
            "label": "Nagashima-type palmoplantar keratosis",
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            "id": "DOID:0111679",
            "label": "glutamate formiminotransferase deficiency",
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            "id": "DOID:0080718",
            "label": "GNE myopathy",
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            "id": "DOID:0060898",
            "label": "Parkinson's disease 20",
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            "children": []
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            "id": "DOID:0061059",
            "label": "immunodeficiency 89",
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            "children": []
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            "id": "DOID:0061058",
            "label": "immunodeficiency 88",
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            "children": []
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        {
            "id": "DOID:0061057",
            "label": "immunodeficiency 87",
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            "children": []
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        {
            "id": "DOID:0061056",
            "label": "immunodeficiency 86",
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            "children": []
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        {
            "id": "DOID:0061052",
            "label": "immunodeficiency 81",
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            "children": []
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            "id": "DOID:0061051",
            "label": "immunodeficiency 80",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0090127",
            "label": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
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            "children": []
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            "id": "DOID:0090126",
            "label": "branched-chain keto acid dehydrogenase kinase deficiency",
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            "children": []
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        {
            "id": "DOID:0111271",
            "label": "Oliver-McFarlane syndrome",
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            "children": []
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        {
            "id": "DOID:0111270",
            "label": "isolated sulfite oxidase deficiency",
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            "children": []
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        {
            "id": "DOID:14775",
            "label": "brittle cornea syndrome 1",
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            "children": []
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        {
            "id": "DOID:0110460",
            "label": "dilated cardiomyopathy 2A",
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            "children": []
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        {
            "id": "DOID:10923",
            "label": "sickle cell anemia",
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            "children": []
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            "id": "DOID:0111725",
            "label": "geleophysic dysplasia 1",
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            "children": []
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        {
            "id": "DOID:0111722",
            "label": "amelogenesis imperfecta type 3C",
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            "children": []
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            "id": "DOID:0080119",
            "label": "mitochondrial DNA depletion syndrome 1",
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            "children": []
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            "id": "DOID:0090038",
            "label": "torsion dystonia 2",
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            "children": []
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            "id": "DOID:0090032",
            "label": "Silverman-Handmaker type dyssegmental dysplasia",
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            "children": []
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            "id": "DOID:0112076",
            "label": "nuclear type mitochondrial complex I deficiency 13",
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            "children": []
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        {
            "id": "DOID:0112077",
            "label": "nuclear type mitochondrial complex I deficiency 15",
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            "children": []
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            "id": "DOID:0112070",
            "label": "nuclear type mitochondrial complex I deficiency 18",
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            "children": []
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            "id": "DOID:0112071",
            "label": "nuclear type mitochondrial complex I deficiency 31",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112072",
            "label": "nuclear type mitochondrial complex I deficiency 20",
            "link_status": true,
            "children": []
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            "id": "DOID:0112073",
            "label": "nuclear type mitochondrial complex I deficiency 9",
            "link_status": true,
            "children": []
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            "id": "DOID:0110924",
            "label": "familial hemophagocytic lymphohistiocytosis 4",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110926",
            "label": "nemaline myopathy 1",
            "link_status": true,
            "children": []
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            "id": "DOID:0110927",
            "label": "nemaline myopathy 3",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110920",
            "label": "hereditary spherocytosis type 5",
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            "children": []
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        {
            "id": "DOID:0110922",
            "label": "familial hemophagocytic lymphohistiocytosis 2",
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            "children": []
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        {
            "id": "DOID:0110923",
            "label": "familial hemophagocytic lymphohistiocytosis 3",
            "link_status": true,
            "children": []
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            "id": "DOID:0110928",
            "label": "nemaline myopathy 2",
            "link_status": true,
            "children": []
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            "id": "DOID:0110929",
            "label": "nemaline myopathy 9",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0081448",
            "label": "cone-rod dystrophy 22",
            "link_status": true,
            "children": []
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            "id": "DOID:0080673",
            "label": "fibrochondrogenesis 2",
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            "id": "DOID:0112246",
            "label": "glutaric acidemia type 3",
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            "id": "DOID:0112244",
            "label": "alopecia, neurologic defects, and endocrinopathy syndrome",
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            "children": []
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        {
            "id": "DOID:0112249",
            "label": "GAPO syndrome",
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            "children": []
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            "id": "DOID:0112248",
            "label": "17-beta hydroxysteroid dehydrogenase 3 deficiency",
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            "children": []
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            "id": "DOID:0080613",
            "label": "anterior segment dysgenesis 8",
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            "children": []
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            "id": "DOID:0110119",
            "label": "autoimmune lymphoproliferative syndrome type 3",
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            "children": []
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            "id": "DOID:0110118",
            "label": "Leber congenital amaurosis 16",
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            "children": []
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            "id": "DOID:0111574",
            "label": "autosomal recessive woolly hair 3",
            "link_status": true,
            "children": []
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            "id": "DOID:0070576",
            "label": "spermatogenic failure 77",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070577",
            "label": "spermatogenic failure 78",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070574",
            "label": "spermatogenic failure 75",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070575",
            "label": "spermatogenic failure 76",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070572",
            "label": "spermatogenic failure 73",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070573",
            "label": "spermatogenic failure 74",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070570",
            "label": "spermatogenic failure 71",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070571",
            "label": "spermatogenic failure 72",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070578",
            "label": "spermatogenic failure 79",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070579",
            "label": "spermatogenic failure 80",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110730",
            "label": "neuronal ceroid lipofuscinosis 6B",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0050950",
            "label": "autosomal recessive cerebellar ataxia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080063",
                    "label": "autosomal recessive spinocerebellar ataxia 11",
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                    "children": []
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                {
                    "id": "DOID:0080062",
                    "label": "autosomal recessive spinocerebellar ataxia 13",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080061",
                    "label": "autosomal recessive spinocerebellar ataxia 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080060",
                    "label": "autosomal recessive spinocerebellar ataxia 12",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080066",
                    "label": "autosomal recessive spinocerebellar ataxia 20",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0080065",
                    "label": "autosomal recessive spinocerebellar ataxia 19",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0111611",
                    "label": "autosomal recessive spinocerebellar ataxia 4",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0111613",
                    "label": "autosomal recessive spinocerebellar ataxia 23",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111615",
                    "label": "autosomal recessive spinocerebellar ataxia 24",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111614",
                    "label": "autosomal recessive spinocerebellar ataxia 22",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111616",
                    "label": "autosomal recessive spinocerebellar ataxia 27",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080029",
                    "label": "autosomal recessive spinocerebellar ataxia 16",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070411",
                    "label": "autosomal recessive spinocerebellar ataxia 30",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070410",
                    "label": "autosomal recessive spinocerebellar ataxia 29",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0070413",
                    "label": "autosomal recessive spinocerebellar ataxia 32",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070412",
                    "label": "autosomal recessive spinocerebellar ataxia 31",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080259",
                    "label": "autosomal recessive spinocerebellar ataxia 25",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080064",
                    "label": "autosomal recessive spinocerebellar ataxia 17",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080042",
                    "label": "autosomal recessive spinocerebellar ataxia 18",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111155",
                    "label": "autosomal recessive spinocerebellar ataxia 21",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080260",
                    "label": "autosomal recessive spinocerebellar ataxia 26",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070465",
                    "label": "spinocerebellar ataxia with axonal neuropathy type 3",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:12705",
                    "label": "Friedreich ataxia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0111218",
                            "label": "Friedreich ataxia 1",
                            "link_status": true,
                            "children": []
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                },
                {
                    "id": "DOID:12704",
                    "label": "ataxia telangiectasia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090115",
                    "label": "spinocerebellar ataxia with axonal neuropathy 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060694",
                    "label": "Cayman type cerebellar ataxia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050999",
                    "label": "autosomal recessive spinocerebellar ataxia 10",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070409",
                    "label": "autosomal recessive spinocerebellar ataxia 28",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111618",
                    "label": "autosomal recessive spinocerebellar ataxia 8",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080058",
                    "label": "autosomal recessive spinocerebellar ataxia 14",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080059",
                    "label": "autosomal recessive spinocerebellar ataxia 7",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080057",
                    "label": "autosomal recessive spinocerebellar ataxia 15",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070558",
                    "label": "autosomal recessive spinocerebellar ataxia 34",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0081383",
                    "label": "ataxia-oculomotor apraxia type 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0081385",
                    "label": "ataxia-telangiectasia-like disorder-2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0081384",
                    "label": "ataxia-telangiectasia-like disorder-1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050754",
                    "label": "ataxia with oculomotor apraxia type 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050755",
                    "label": "spinocerebellar ataxia with axonal neuropathy 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050946",
                    "label": "Charlevoix-Saguenay spastic ataxia",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060557",
                    "label": "ataxia with oculomotor apraxia type 3",
                    "link_status": true,
                    "children": []
                }
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        },
        {
            "id": "DOID:0111996",
            "label": "immunodeficiency 51",
            "link_status": true,
            "children": []
        },
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            "id": "DOID:0111997",
            "label": "immunodeficiency 63",
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            "id": "DOID:0111994",
            "label": "immunodeficiency 45",
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            "id": "DOID:0111995",
            "label": "immunodeficiency 28",
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            "id": "DOID:0111992",
            "label": "immunodeficiency 53",
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            "children": []
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            "id": "DOID:0111993",
            "label": "immunodeficiency 55",
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            "children": []
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            "id": "DOID:0111990",
            "label": "immunodeficiency 30",
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            "id": "DOID:0111991",
            "label": "immunodeficiency 62",
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            "children": []
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            "id": "DOID:0111998",
            "label": "immunodeficiency 66",
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            "children": []
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            "id": "DOID:0111999",
            "label": "immunodeficiency 61",
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            "id": "DOID:0080735",
            "label": "Ehlers-Danlos syndrome kyphoscoliotic type 2",
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            "id": "DOID:0080105",
            "label": "microcephaly and chorioretinopathy 1",
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            "id": "DOID:0080106",
            "label": "microcephaly and chorioretinopathy 2",
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            "id": "DOID:0061075",
            "label": "immunodeficiency 106",
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            "children": []
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            "id": "DOID:0061074",
            "label": "severe combined immunodeficiency 105",
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            "children": []
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            "id": "DOID:0061077",
            "label": "immunodeficiency 108",
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        {
            "id": "DOID:0080734",
            "label": "Ehlers-Danlos syndrome kyphoscoliotic type 1",
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            "id": "DOID:14687",
            "label": "diastrophic dysplasia",
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            "children": []
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            "id": "DOID:0061079",
            "label": "immunodeficiency 112",
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            "children": []
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            "id": "DOID:0061078",
            "label": "immunodeficiency 109",
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            "id": "DOID:0080101",
            "label": "Compton-North congenital myopathy",
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            "id": "DOID:0080732",
            "label": "Ehlers-Danlos syndrome classic-like 2",
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            "id": "DOID:0110116",
            "label": "autoimmune lymphoproliferative syndrome type 2B",
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            "id": "DOID:0080730",
            "label": "Ehlers-Danlos syndrome cardiac valvular type",
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            "id": "DOID:0080869",
            "label": "primary ovarian insufficiency 12",
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            "children": []
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            "id": "DOID:0080867",
            "label": "primary ovarian insufficiency 10",
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            "children": []
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            "id": "DOID:0080866",
            "label": "primary ovarian insufficiency 9",
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            "children": []
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            "id": "DOID:0080865",
            "label": "primary ovarian insufficiency 8",
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            "id": "DOID:0080357",
            "label": "mitochondrial complex IV deficiency nuclear type 2",
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            "children": []
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            "id": "DOID:0080289",
            "label": "orofaciodigital syndrome XVII",
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            "id": "DOID:0060916",
            "label": "proteasome-associated autoinflammatory syndrome 3",
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            "id": "DOID:0080135",
            "label": "multiple mitochondrial dysfunctions syndrome 3",
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            "children": []
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            "id": "DOID:0080134",
            "label": "multiple mitochondrial dysfunctions syndrome 2",
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            "children": []
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            "id": "DOID:0080136",
            "label": "multiple mitochondrial dysfunctions syndrome 4",
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            "children": []
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            "id": "DOID:0080131",
            "label": "mitochondrial DNA depletion syndrome 13",
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            "children": []
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            "id": "DOID:0080133",
            "label": "multiple mitochondrial dysfunctions syndrome 1",
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            "children": []
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        {
            "id": "DOID:0080132",
            "label": "Sengers syndrome",
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            "children": []
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            "id": "DOID:0080138",
            "label": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
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            "id": "DOID:0090059",
            "label": "enhanced S-cone syndrome",
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            "id": "DOID:0090050",
            "label": "dystonia 27",
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            "children": []
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            "id": "DOID:2935",
            "label": "Chediak-Higashi syndrome",
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            "id": "DOID:0110909",
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                    "id": "DOID:0051039",
                    "label": "primary autosomal recessive microcephaly 28",
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                    "id": "DOID:0051036",
                    "label": "primary autosomal recessive microcephaly 25",
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                    "children": []
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                    "id": "DOID:0051034",
                    "label": "primary autosomal recessive microcephaly 23",
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                    "children": []
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                    "id": "DOID:0051035",
                    "label": "primary autosomal recessive microcephaly 24",
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                    "id": "DOID:0051032",
                    "label": "primary autosomal recessive microcephaly 21",
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                    "id": "DOID:0051033",
                    "label": "primary autosomal recessive microcephaly 22",
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                    "id": "DOID:0051031",
                    "label": "primary autosomal recessive microcephaly 20",
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                    "id": "DOID:0070291",
                    "label": "primary autosomal recessive microcephaly 4",
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                    "id": "DOID:0070290",
                    "label": "primary autosomal recessive microcephaly 6",
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                    "id": "DOID:0070294",
                    "label": "primary autosomal recessive microcephaly 10",
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                    "id": "DOID:0051041",
                    "label": "primary autosomal recessive microcephaly 30",
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                    "id": "DOID:0051040",
                    "label": "primary autosomal recessive microcephaly 29",
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                    "children": []
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                    "id": "DOID:0070279",
                    "label": "primary autosomal recessive microcephaly 14",
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                    "id": "DOID:0070278",
                    "label": "primary autosomal recessive microcephaly 7",
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                    "id": "DOID:0070277",
                    "label": "primary autosomal recessive microcephaly 15",
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                    "id": "DOID:0070284",
                    "label": "primary autosomal recessive microcephaly 12",
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                    "id": "DOID:0070285",
                    "label": "primary autosomal recessive microcephaly 1",
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                    "children": []
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                    "id": "DOID:0070288",
                    "label": "primary autosomal recessive microcephaly 17",
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                    "id": "DOID:0070289",
                    "label": "primary autosomal recessive microcephaly 16",
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                    "id": "DOID:0070293",
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                    "id": "DOID:0070292",
                    "label": "primary autosomal recessive microcephaly 9",
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                    "id": "DOID:0070280",
                    "label": "primary autosomal recessive microcephaly 5",
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                    "id": "DOID:0070281",
                    "label": "primary autosomal recessive microcephaly 19",
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                    "id": "DOID:0070282",
                    "label": "primary autosomal recessive microcephaly 8",
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                    "children": []
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                    "id": "DOID:0070283",
                    "label": "primary autosomal recessive microcephaly 13",
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                    "children": []
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                    "id": "DOID:0070286",
                    "label": "primary autosomal recessive microcephaly 3",
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                    "id": "DOID:0070287",
                    "label": "primary autosomal recessive microcephaly 11",
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            "id": "DOID:0111422",
            "label": "familial lipase maturation factor 1 deficiency",
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            "id": "DOID:0110357",
            "label": "retinitis pigmentosa 35",
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            "id": "DOID:0110354",
            "label": "retinitis pigmentosa 19",
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            "children": []
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            "id": "DOID:0110353",
            "label": "retinitis pigmentosa 20",
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            "children": []
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            "id": "DOID:0110352",
            "label": "retinitis pigmentosa 59",
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            "children": []
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            "id": "DOID:0110351",
            "label": "osteogenesis imperfecta type 11",
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            "children": []
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            "id": "DOID:0080458",
            "label": "developmental and epileptic encephalopathy 35",
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            "children": []
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            "id": "DOID:0080459",
            "label": "developmental and epileptic encephalopathy 12",
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            "children": []
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            "id": "DOID:0110358",
            "label": "retinitis pigmentosa 12",
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            "id": "DOID:0111080",
            "label": "Fanconi anemia complementation group V",
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            "id": "DOID:0111081",
            "label": "Fanconi anemia complementation group T",
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            "children": []
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            "id": "DOID:0111082",
            "label": "Fanconi anemia complementation group L",
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            "children": []
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            "id": "DOID:0111083",
            "label": "Fanconi anemia complementation group D2",
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            "children": []
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            "id": "DOID:0111084",
            "label": "Fanconi anemia complementation group E",
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            "children": []
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            "id": "DOID:0111085",
            "label": "Fanconi anemia complementation group U",
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            "children": []
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            "id": "DOID:0111087",
            "label": "Fanconi anemia complementation group C",
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            "children": []
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            "id": "DOID:0111089",
            "label": "Fanconi anemia complementation group D1",
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            "children": []
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            "id": "DOID:0112267",
            "label": "nephrotic syndrome type 21",
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            "children": []
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            "id": "DOID:0112266",
            "label": "nephrotic syndrome type 23",
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            "children": []
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            "id": "DOID:0080635",
            "label": "optic disc anomalies with retinal and/or macular dystrophy",
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            "id": "DOID:0080632",
            "label": "Fazio-Londe disease",
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            "id": "DOID:0110171",
            "label": "Charcot-Marie-Tooth disease axonal type 2S",
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            "children": []
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            "id": "DOID:0110179",
            "label": "Charcot-Marie-Tooth disease type 2B2",
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            "children": []
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            "id": "DOID:0112198",
            "label": "spondyloepimetaphyseal dysplasia with joint laxity type 1",
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            "children": []
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            "id": "DOID:0112193",
            "label": "tetraamelia syndrome 2",
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            "children": []
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            "id": "DOID:0112192",
            "label": "tetraamelia syndrome 1",
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            "children": []
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            "id": "DOID:0112196",
            "label": "spondylometaepiphyseal dysplasia, short limb-hand type",
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            "children": []
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            "id": "DOID:0110764",
            "label": "hereditary spastic paraplegia 11",
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            "id": "DOID:0111229",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A",
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                    "label": "congenital muscular dystrophy-dystroglycanopathy type A11",
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                    "id": "DOID:0111242",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A6",
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                    "id": "DOID:0111240",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A2",
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                    "children": []
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                    "id": "DOID:0111241",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A5",
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                    "id": "DOID:0050559",
                    "label": "Fukuyama congenital muscular dystrophy",
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                    "id": "DOID:0111234",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A7",
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                    "id": "DOID:0111232",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A9",
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                    "id": "DOID:0111231",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A8",
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                    "children": []
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                    "id": "DOID:0111239",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A10",
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                    "children": []
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                    "id": "DOID:0111238",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A13",
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                    "id": "DOID:0111237",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A1",
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                    "children": []
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                    "id": "DOID:0111236",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A3",
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                    "children": []
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                    "id": "DOID:0111235",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A12",
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                    "children": []
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                    "id": "DOID:0111233",
                    "label": "congenital muscular dystrophy-dystroglycanopathy type A14",
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                    "children": []
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            "id": "DOID:0111559",
            "label": "Charcot-Marie-Tooth disease type 2EE",
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            "children": []
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            "id": "DOID:0080715",
            "label": "developmental and epileptic encephalopathy 82",
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            "children": []
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            "id": "DOID:0110786",
            "label": "hereditary spastic paraplegia 35",
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            "children": []
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            "id": "DOID:0061013",
            "label": "ovarian dysgenesis 9",
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            "children": []
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            "id": "DOID:0061016",
            "label": "combined or isolated pituitary growth hormone deficiency 7",
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            "children": []
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            "id": "DOID:0061014",
            "label": "ovarian dysgenesis 10",
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            "children": []
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            "id": "DOID:0061019",
            "label": "combined or isolated pituitary hormone deficiency 1",
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            "children": []
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            "id": "DOID:2235",
            "label": "prothrombin deficiency",
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            "children": []
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            "id": "DOID:2231",
            "label": "factor XII deficiency",
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            "children": []
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            "id": "DOID:0110338",
            "label": "osteogenesis imperfecta type 17",
            "link_status": true,
            "children": []
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            "id": "DOID:3389",
            "label": "Papillon-Lefevre disease",
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            "children": []
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            "id": "DOID:0080844",
            "label": "omodysplasia 1",
            "link_status": true,
            "children": []
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            "id": "DOID:0110705",
            "label": "hypotrichosis 8",
            "link_status": true,
            "children": []
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            "id": "DOID:0060891",
            "label": "Parkinson's disease 19A",
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            "children": []
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            "id": "DOID:0060896",
            "label": "Parkinson's disease 23",
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            "children": []
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            "id": "DOID:0110195",
            "label": "Charcot-Marie-Tooth disease type 4E",
            "link_status": true,
            "children": []
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            "id": "DOID:0110194",
            "label": "Charcot-Marie-Tooth disease type 4B3",
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            "children": []
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        {
            "id": "DOID:0090071",
            "label": "hypogonadotropic hypogonadism 11 with or without anosmia",
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            "children": []
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            "id": "DOID:0090073",
            "label": "hypogonadotropic hypogonadism 13 with or without anosmia",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0090074",
            "label": "hypogonadotropic hypogonadism 8 with or without anosmia",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0090076",
            "label": "hypogonadotropic hypogonadism 18 with or without anosmia",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110191",
            "label": "Charcot-Marie-Tooth disease type 4B1",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110190",
            "label": "Charcot-Marie-Tooth disease type 4B2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110703",
            "label": "hypotrichosis 6",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110193",
            "label": "Charcot-Marie-Tooth disease type 4F",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110192",
            "label": "Charcot-Marie-Tooth disease type 4H",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0050588",
            "label": "muscular dystrophy-dystroglycanopathy type B1",
            "link_status": true,
            "children": []
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            "id": "DOID:0050585",
            "label": "congenital generalized lipodystrophy",
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            "children": [
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                    "id": "DOID:0111138",
                    "label": "congenital generalized lipodystrophy type 4",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0111135",
                    "label": "congenital generalized lipodystrophy type 1",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0111136",
                    "label": "congenital generalized lipodystrophy type 2",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0111137",
                    "label": "congenital generalized lipodystrophy type 3",
                    "link_status": true,
                    "children": []
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            "id": "DOID:0081159",
            "label": "dilated cardiomyopathy 2C",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060269",
            "label": "pontocerebellar hypoplasia type 2C",
            "link_status": true,
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            "id": "DOID:9521",
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            "id": "DOID:0050604",
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            "id": "DOID:0081368",
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            "id": "DOID:0060902",
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            "label": "nuclear type mitochondrial complex I deficiency 10",
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            "label": "Leber congenital amaurosis 13",
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            "label": "Leber congenital amaurosis 4",
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            "id": "DOID:0110337",
            "label": "osteogenesis imperfecta type 7",
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            "label": "osteogenesis imperfecta type 8",
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            "label": "congenital dyserythropoietic anemia type IIIb",
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            "id": "DOID:0051007",
            "label": "congenital nonspherocytic hemolytic anemia 8",
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            "label": "congenital nonspherocytic hemolytic anemia 5",
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            "id": "DOID:0051005",
            "label": "congenital nonspherocytic hemolytic anemia 4",
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            "id": "DOID:0051004",
            "label": "congenital nonspherocytic hemolytic anemia 3",
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            "id": "DOID:0110198",
            "label": "Charcot-Marie-Tooth disease recessive intermediate C",
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            "id": "DOID:0110196",
            "label": "Charcot-Marie-Tooth disease type 4G",
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            "label": "hyperphosphatemic familial tumoral calcinosis",
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            "label": "pycnodysostosis",
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            "id": "DOID:0090112",
            "label": "Nasu-Hakola disease",
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            "id": "DOID:0090113",
            "label": "RIDDLE syndrome",
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            "id": "DOID:0090116",
            "label": "spondylocarpotarsal synostosis syndrome",
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            "id": "DOID:0090117",
            "label": "thiamine-responsive megaloblastic anemia syndrome",
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            "children": []
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            "id": "DOID:0081446",
            "label": "dimethylglycine dehydrogenase deficiency",
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            "children": []
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            "id": "DOID:0090118",
            "label": "congenital amegakaryocytic thrombocytopenia",
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                    "id": "DOID:0061002",
                    "label": "congenital amegakaryocytic thrombocytopenia 2",
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                    "id": "DOID:0061005",
                    "label": "congenital amegakaryocytic thrombocytopenia 1",
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            "id": "DOID:0081447",
            "label": "cone-rod dystrophy 21",
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            "id": "DOID:0080761",
            "label": "Fanconi renotubular syndrome 5",
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            "children": []
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            "id": "DOID:0110795",
            "label": "hereditary spastic paraplegia 43",
            "link_status": true,
            "children": []
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            "label": "Kahrizi syndrome",
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            "id": "DOID:0060337",
            "label": "CEDNIK syndrome",
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            "id": "DOID:0080209",
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            "label": "ectodermal dysplasia 9",
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            "label": "ectodermal dysplasia 15",
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            "id": "DOID:0111650",
            "label": "ectodermal dysplasia 13",
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            "label": "ectodermal dysplasia 4",
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            "id": "DOID:0070219",
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            "id": "DOID:0070218",
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            "id": "DOID:0081136",
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            "label": "BH4-deficient hyperphenylalaninemia D",
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            "id": "DOID:0081138",
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            "id": "DOID:0081139",
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            "id": "DOID:0060759",
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            "label": "immunodeficiency 128",
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            "label": "immunodeficiency 127",
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            "label": "immunodeficiency 125",
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            "label": "severe combined immunodeficiency 124",
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            "label": "immunodeficiency 133",
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            "label": "immunodeficiency 130",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2N",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2I",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2M",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2K",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2U",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2O",
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                    "id": "DOID:0110293",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2P",
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                    "id": "DOID:0110290",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2X",
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                    "id": "DOID:0110275",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2A",
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                    "id": "DOID:0110276",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2B",
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                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2C",
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                    "id": "DOID:0110278",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2D",
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                    "id": "DOID:0110279",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2E",
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                    "id": "DOID:0061130",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 28",
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                    "id": "DOID:0061131",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 26",
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                    "id": "DOID:0061132",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 23",
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                    "id": "DOID:0061133",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 27",
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                    "children": []
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                    "id": "DOID:0061134",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 29",
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                {
                    "id": "DOID:0080762",
                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
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                    "children": []
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            "id": "DOID:0110270",
            "label": "cataract 17 multiple types",
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            "children": []
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            "id": "DOID:0110016",
            "label": "Leber congenital amaurosis 2",
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            "children": []
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            "id": "DOID:0111633",
            "label": "congenital sucrase-isomaltase deficiency",
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            "children": []
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            "label": "benign recurrent intrahepatic cholestasis 1",
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            "label": "benign recurrent intrahepatic cholestasis 2",
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            "children": []
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            "label": "cleft lip-palate-ectodermal dysplasia syndrome",
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            "children": []
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            "label": "congenital secretory sodium diarrhea 8",
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            "children": []
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        {
            "id": "DOID:0060776",
            "label": "congenital diarrhea 5 with tufting enteropathy",
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            "children": []
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        {
            "id": "DOID:0111938",
            "label": "immunodeficiency 24",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:14118",
            "label": "familial lipoprotein lipase deficiency",
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            "children": []
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            "id": "DOID:0080071",
            "label": "mucolipidosis III alpha/beta",
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            "children": []
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            "id": "DOID:0110738",
            "label": "neurodegeneration with brain iron accumulation 4",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080612",
            "label": "anterior segment dysgenesis 7",
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            "children": []
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        {
            "id": "DOID:0110869",
            "label": "congenital stationary night blindness 1E",
            "link_status": true,
            "children": []
        },
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            "id": "DOID:0110868",
            "label": "congenital stationary night blindness 1D",
            "link_status": true,
            "children": []
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            "id": "DOID:0110865",
            "label": "congenital stationary night blindness 1B",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110864",
            "label": "congenital stationary night blindness 1F",
            "link_status": true,
            "children": []
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            "id": "DOID:0110867",
            "label": "congenital stationary night blindness 1C",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110866",
            "label": "congenital stationary night blindness 1H",
            "link_status": true,
            "children": []
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            "id": "DOID:0110861",
            "label": "autosomal recessive polycystic kidney disease",
            "link_status": true,
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                    "id": "DOID:0080273",
                    "label": "polycystic kidney disease 5",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0080212",
                    "label": "polycystic kidney disease 4",
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                    "children": []
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        },
        {
            "id": "DOID:0070398",
            "label": "hypomyelinating leukodystrophy 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070399",
            "label": "hypomyelinating leukodystrophy 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070396",
            "label": "progressive leukoencephalopathy with ovarian failure",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070397",
            "label": "hypomyelinating leukodystrophy 23",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070395",
            "label": "developmental and epileptic encephalopathy 110",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070392",
            "label": "developmental and epileptic encephalopathy 106",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070393",
            "label": "developmental and epileptic encephalopathy 107",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070391",
            "label": "developmental and epileptic encephalopathy 105",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080121",
            "label": "mitochondrial DNA depletion syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070179",
            "label": "spermatogenic failure 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070172",
            "label": "spermatogenic failure 15",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070173",
            "label": "spermatogenic failure 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070170",
            "label": "spermatogenic failure 19",
            "link_status": true,
            "children": []
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            "id": "DOID:0070177",
            "label": "spermatogenic failure 22",
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            "children": []
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            "id": "DOID:0070174",
            "label": "spermatogenic failure 17",
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            "children": []
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            "id": "DOID:0060752",
            "label": "familial temporal lobe epilepsy 5",
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            "children": []
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            "id": "DOID:0060757",
            "label": "sclerosteosis 2",
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            "id": "DOID:0060756",
            "label": "sclerosteosis 1",
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            "id": "DOID:0110090",
            "label": "short-rib thoracic dysplasia 7 with or without polydactyly",
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            "children": []
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            "id": "DOID:0110091",
            "label": "short-rib thoracic dysplasia 10 with or without polydactyly",
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            "children": []
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        {
            "id": "DOID:0110092",
            "label": "short-rib thoracic dysplasia 6 with or without polydactyly",
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            "children": []
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            "id": "DOID:0110093",
            "label": "short-rib thoracic dysplasia 13 with or without polydactyly",
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            "children": []
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            "id": "DOID:0110094",
            "label": "short-rib thoracic dysplasia 8 with or without polydactyly",
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            "children": []
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        {
            "id": "DOID:0110095",
            "label": "short-rib thoracic dysplasia 11 with or without polydactyly",
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            "children": []
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        {
            "id": "DOID:0110097",
            "label": "short-rib thoracic dysplasia 9 with or without polydactyly",
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            "children": []
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            "id": "DOID:0110250",
            "label": "cataract 16 multiple types",
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            "children": []
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        {
            "id": "DOID:2012",
            "label": "Nezelof syndrome",
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            "children": []
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            "id": "DOID:0110033",
            "label": "autosomal recessive Alport syndrome",
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            "children": []
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            "id": "DOID:0080722",
            "label": "Kenny-Caffey syndrome type 1",
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            "children": []
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            "id": "DOID:0112097",
            "label": "nuclear type mitochondrial complex I deficiency 33",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112094",
            "label": "nuclear type mitochondrial complex I deficiency 14",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112095",
            "label": "nuclear type mitochondrial complex I deficiency 28",
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            "children": []
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        {
            "id": "DOID:0112092",
            "label": "nuclear type mitochondrial complex I deficiency 7",
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            "children": []
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        {
            "id": "DOID:0112093",
            "label": "nuclear type mitochondrial complex I deficiency 3",
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            "children": []
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        {
            "id": "DOID:0112090",
            "label": "nuclear type mitochondrial complex I deficiency 27",
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            "children": []
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        {
            "id": "DOID:0112091",
            "label": "nuclear type mitochondrial complex I deficiency 34",
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            "children": []
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        {
            "id": "DOID:0061083",
            "label": "immunodeficiency 117",
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            "children": []
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        {
            "id": "DOID:0111619",
            "label": "combined D-2- and L-2-hydroxyglutaric aciduria",
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            "children": []
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            "id": "DOID:0111345",
            "label": "transient bullous dermolysis of the newborn",
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            "children": []
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        {
            "id": "DOID:0050436",
            "label": "mulibrey nanism",
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            "children": []
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            "id": "DOID:0050439",
            "label": "Usher syndrome",
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                    "id": "DOID:0110827",
                    "label": "Usher syndrome type 2",
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                    "children": [
                        {
                            "id": "DOID:0110839",
                            "label": "Usher syndrome type 2C",
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                            "children": []
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                        {
                            "id": "DOID:0110838",
                            "label": "Usher syndrome type 2A",
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                            "children": []
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                        {
                            "id": "DOID:0110840",
                            "label": "Usher syndrome type 2D",
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                            "children": []
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                {
                    "id": "DOID:0110826",
                    "label": "Usher syndrome type 1",
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                    "children": [
                        {
                            "id": "DOID:0110836",
                            "label": "Usher syndrome type 1J",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:0110834",
                            "label": "Usher syndrome type 1G",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:0110832",
                            "label": "Usher syndrome type 1F",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:0110830",
                            "label": "Usher syndrome type 1C",
                            "link_status": true,
                            "children": []
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                        {
                            "id": "DOID:0110831",
                            "label": "Usher syndrome type 1D",
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                            "children": []
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                {
                    "id": "DOID:0110828",
                    "label": "Usher syndrome type 3",
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                            "id": "DOID:0110842",
                            "label": "Usher syndrome type 3B",
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                            "children": []
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                        {
                            "id": "DOID:0110841",
                            "label": "Usher syndrome type 3A",
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                            "children": []
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            "id": "DOID:0080884",
            "label": "vitamin D-dependent rickets type 2A",
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            "children": []
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            "id": "DOID:0070613",
            "label": "familial renal glucosuria",
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            "children": []
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        {
            "id": "DOID:0080554",
            "label": "congenital disorder of glycosylation Ib",
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            "children": []
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        {
            "id": "DOID:0061116",
            "label": "Carey-Fineman-Ziter syndrome 2",
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            "children": []
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        {
            "id": "DOID:0080553",
            "label": "congenital disorder of glycosylation Iaa",
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            "children": []
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        {
            "id": "DOID:0061115",
            "label": "Carey-Fineman-Ziter syndrome 1",
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            "children": []
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        {
            "id": "DOID:0061112",
            "label": "retinitis pigmentosa 95",
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            "children": []
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        {
            "id": "DOID:0061113",
            "label": "retinitis pigmentosa 78",
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            "children": []
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        {
            "id": "DOID:0080552",
            "label": "congenital disorder of glycosylation Ia",
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            "children": []
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        {
            "id": "DOID:0110419",
            "label": "retinitis pigmentosa with or without situs inversus",
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            "children": []
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            "id": "DOID:0110635",
            "label": "muscular dystrophy-dystroglycanopathy type B5",
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            "children": []
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            "id": "DOID:0110636",
            "label": "congenital merosin-deficient muscular dystrophy 1A",
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            "children": []
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            "id": "DOID:0080581",
            "label": "hyperekplexia 4",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080587",
            "label": "congenital myasthenic syndrome 22",
            "link_status": true,
            "children": []
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            "id": "DOID:0111854",
            "label": "primary ciliary dyskinesia 39",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080729",
            "label": "brittle cornea syndrome 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080054",
            "label": "achondrogenesis type IA",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080055",
            "label": "achondrogenesis type IB",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080052",
            "label": "acromesomelic dysplasia, Grebe type",
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            "children": []
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        {
            "id": "DOID:0080050",
            "label": "acromesomelic dysplasia, Maroteaux type",
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            "children": []
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        {
            "id": "DOID:0080051",
            "label": "acromesomelic dysplasia, Hunter-Thompson type",
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            "children": []
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        {
            "id": "DOID:0110809",
            "label": "hereditary spastic paraplegia 57",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110808",
            "label": "hereditary spastic paraplegia 56",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111404",
            "label": "Jalili syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110802",
            "label": "hereditary spastic paraplegia 50",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110800",
            "label": "hereditary spastic paraplegia 48",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111401",
            "label": "congenital dyserythropoietic anemia type II",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110805",
            "label": "hereditary spastic paraplegia 53",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070376",
            "label": "developmental and epileptic encephalopathy 31B",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060638",
            "label": "neonatal diabetes mellitus with congenital hypothyroidism",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080778",
            "label": "transient infantile liver failure",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060981",
            "label": "mosaic variegated aneuploidy syndrome 4",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060987",
            "label": "preaxial polydactyly I",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060988",
            "label": "pancreatic agenesis 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111450",
            "label": "progressive myoclonus epilepsy 9",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0081440",
            "label": "Peroxisome biogenesis disorder 10B",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111459",
            "label": "classic galactosemia",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111458",
            "label": "galactose epimerase deficiency",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110238",
            "label": "cataract 18",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111187",
            "label": "distal myopathy with anterior tibial onset",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111366",
            "label": "familial hepatic adenoma",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111361",
            "label": "hypotrichosis-lymphedema-telangiectasia syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0050450",
            "label": "Gitelman syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080737",
            "label": "Ehlers-Danlos syndrome musculocontractural type 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:3613",
            "label": "Canavan disease",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070589",
            "label": "spermatogenic failure 90",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070588",
            "label": "spermatogenic failure 89",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070587",
            "label": "spermatogenic failure 88",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070586",
            "label": "spermatogenic failure 87",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070585",
            "label": "spermatogenic failure 86",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070584",
            "label": "spermatogenic failure 85",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070583",
            "label": "spermatogenic failure 84",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070582",
            "label": "spermatogenic failure 83",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070581",
            "label": "spermatogenic failure 82",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070580",
            "label": "spermatogenic failure 81",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060849",
            "label": "osteoporosis-pseudoglioma syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060842",
            "label": "isolated microphthalmia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060841",
            "label": "isolated microphthalmia 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111968",
            "label": "immunodeficiency 41",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111967",
            "label": "immunodeficiency 54",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111961",
            "label": "immunodeficiency 26",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110066",
            "label": "amelogenesis imperfecta type 1G",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110061",
            "label": "amelogenesis imperfecta hypomaturation type 2A3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110063",
            "label": "amelogenesis imperfecta hypomaturation type 2A5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110062",
            "label": "amelogenesis imperfecta hypomaturation type 2A4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110714",
            "label": "congenital stationary night blindness 1G",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111797",
            "label": "autosomal recessive congenital nystagmus",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110711",
            "label": "congenital hypotrichosis with juvenile macular dystrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110779",
            "label": "hereditary spastic paraplegia 28",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050684",
            "label": "Bowen-Conradi syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0050682",
            "label": "Athabaskan brainstem dysgenesis syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110771",
            "label": "hereditary spastic paraplegia 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110774",
            "label": "hereditary spastic paraplegia 23",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110821",
            "label": "hereditary spastic paraplegia 76",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110820",
            "label": "hereditary spastic paraplegia 75",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110825",
            "label": "hereditary spastic paraplegia 9B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070352",
            "label": "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070356",
            "label": "visual impairment and progressive phthisis bulbi",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070354",
            "label": "cataract 48",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:7400",
            "label": "Nijmegen breakage syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070137",
            "label": "autosomal recessive cutis laxa type IIB",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060474",
            "label": "familial erythrocytosis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060470",
            "label": "salt and pepper syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:1064",
            "label": "cystinosis",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110217",
            "label": "Leber congenital amaurosis 17",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110215",
            "label": "Leber congenital amaurosis 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080939",
            "label": "hereditary angioedema type I",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111167",
            "label": "Dyggve-Melchior-Clausen disease",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0060247",
                    "label": "Smith-McCort dysplasia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0081271",
                            "label": "Smith-McCort dysplasia 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081270",
                            "label": "Smith-McCort dysplasia 1",
                            "link_status": true,
                            "children": []
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        },
        {
            "id": "DOID:0111168",
            "label": "sepiapterin reductase deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050774",
            "label": "rapadilino syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050470",
            "label": "Donohue syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050473",
            "label": "Alstrom syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0050474",
            "label": "Netherton syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:9268",
            "label": "glycine encephalopathy",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070616",
                    "label": "glycine encephalopathy 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0061001",
                    "label": "glycine encephalopathy 2",
                    "link_status": true,
                    "children": []
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        },
        {
            "id": "DOID:0060283",
            "label": "peeling skin syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070525",
                    "label": "peeling skin syndrome 6",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070524",
                    "label": "peeling skin syndrome 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070521",
                    "label": "peeling skin syndrome 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070520",
                    "label": "peeling skin syndrome 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070523",
                    "label": "peeling skin syndrome 4",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0112147",
            "label": "retinitis pigmentosa 90",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110346",
            "label": "osteogenesis imperfecta type 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112142",
            "label": "retinitis pigmentosa 85",
            "link_status": true,
            "children": []
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            "id": "DOID:0070331",
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            "id": "DOID:0060491",
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            "id": "DOID:0080952",
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                    "id": "DOID:0090124",
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                    "id": "DOID:0080980",
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                    "id": "DOID:0070336",
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                    "id": "DOID:0080979",
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            "id": "DOID:0050712",
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            "id": "DOID:0110407",
            "label": "retinitis pigmentosa 57",
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            "label": "congenital disorder of glycosylation Ii",
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            "label": "congenital disorder of glycosylation In",
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            "id": "DOID:0080567",
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            "id": "DOID:0110401",
            "label": "retinitis pigmentosa 74",
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            "id": "DOID:0080569",
            "label": "congenital disorder of glycosylation Ir",
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            "id": "DOID:0112315",
            "label": "brain small vessel disease 3",
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            "id": "DOID:0112317",
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            "label": "intermediate spinal muscular atrophy",
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            "label": "combined oxidative phosphorylation deficiency 25",
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            "label": "combined oxidative phosphorylation deficiency 16",
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            "id": "DOID:0111699",
            "label": "Van den Ende-Gupta syndrome",
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            "label": "Zellweger syndrome",
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                    "label": "peroxisome biogenesis disorder 1A",
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                    "id": "DOID:0080481",
                    "label": "peroxisome biogenesis disorder 6A",
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                    "label": "peroxisome biogenesis disorder 5A",
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                    "label": "peroxisome biogenesis disorder 8A",
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                    "label": "peroxisome biogenesis disorder 7A",
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                    "id": "DOID:0080485",
                    "label": "peroxisome biogenesis disorder 11A",
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                    "id": "DOID:0080484",
                    "label": "peroxisome biogenesis disorder 10A",
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                    "id": "DOID:0080487",
                    "label": "peroxisome biogenesis disorder 13A",
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                    "label": "peroxisome biogenesis disorder 12A",
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            "label": "Sotos syndrome 3",
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            "id": "DOID:0112108",
            "label": "myofibrillar myopathy 10",
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            "children": []
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            "id": "DOID:0112109",
            "label": "spermatogenic failure 44",
            "link_status": true,
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            "id": "DOID:12177",
            "label": "common variable immunodeficiency",
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                    "id": "DOID:0081147",
                    "label": "common variable immunodeficiency 4",
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                    "children": []
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                    "id": "DOID:0081146",
                    "label": "common variable immunodeficiency 3",
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                    "id": "DOID:0081145",
                    "label": "common variable immunodeficiency 2",
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                    "id": "DOID:0081149",
                    "label": "common variable immunodeficiency 6",
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                    "children": []
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                    "id": "DOID:0081148",
                    "label": "common variable immunodeficiency 5",
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                    "children": []
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                    "id": "DOID:0081144",
                    "label": "common variable immunodeficiency 1",
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                    "children": []
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                    "id": "DOID:0081154",
                    "label": "common variable immunodeficiency 12",
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                    "children": []
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                    "id": "DOID:0081155",
                    "label": "common variable immunodeficiency 13",
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                    "children": []
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                    "id": "DOID:0081156",
                    "label": "common variable immunodeficiency 14",
                    "link_status": true,
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                    "id": "DOID:0081150",
                    "label": "common variable immunodeficiency 7",
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                    "id": "DOID:0081151",
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                    "id": "DOID:0060720",
                    "label": "autosomal recessive congenital ichthyosis 11",
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                    "id": "DOID:0060656",
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            "id": "DOID:0111484",
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            "label": "combined oxidative phosphorylation deficiency 24",
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            "label": "combined oxidative phosphorylation deficiency 3",
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            "id": "DOID:0111487",
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            "id": "DOID:0111480",
            "label": "combined oxidative phosphorylation deficiency 10",
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            "id": "DOID:0111481",
            "label": "combined oxidative phosphorylation deficiency 11",
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            "id": "DOID:0111482",
            "label": "combined oxidative phosphorylation deficiency 36",
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            "id": "DOID:0111483",
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            "label": "combined oxidative phosphorylation deficiency 31",
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                    "id": "DOID:0060833",
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            "id": "DOID:0110677",
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            "id": "DOID:0110678",
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            "id": "DOID:0110679",
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            "id": "DOID:0060590",
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            "id": "DOID:0070504",
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            "id": "DOID:0070503",
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            "id": "DOID:0070502",
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            "children": []
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            "id": "DOID:0070501",
            "label": "mitochondrial complex IV deficiency nuclear type 16",
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            "id": "DOID:0070500",
            "label": "mitochondrial complex IV deficiency nuclear type 15",
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            "id": "DOID:0081007",
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            "children": []
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            "id": "DOID:0060375",
            "label": "orofaciodigital syndrome V",
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            "id": "DOID:0060374",
            "label": "orofaciodigital syndrome IV",
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            "label": "Parkinson's disease 15",
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            "children": []
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            "children": []
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            "children": []
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            "id": "DOID:0112264",
            "label": "Woodhouse-Sakati syndrome",
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            "children": []
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            "id": "DOID:0110804",
            "label": "hereditary spastic paraplegia 52",
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            "children": []
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            "id": "DOID:14723",
            "label": "beta-ketothiolase deficiency",
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            "children": []
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            "id": "DOID:0110680",
            "label": "congenital myasthenic syndrome 2C",
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            "children": []
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            "id": "DOID:0110682",
            "label": "congenital myasthenic syndrome 16",
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            "children": []
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            "id": "DOID:0080836",
            "label": "growth hormone insensitivity syndrome with immune dysregulation 1",
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            "children": []
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            "id": "DOID:0110441",
            "label": "dilated cardiomyopathy 2B",
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            "children": []
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            "id": "DOID:0110444",
            "label": "dilated cardiomyopathy 1X",
            "link_status": true,
            "children": []
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            "id": "DOID:0110176",
            "label": "Charcot-Marie-Tooth disease axonal type 2X",
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            "children": []
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            "id": "DOID:0112351",
            "label": "spermatogenic failure 62",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112350",
            "label": "spermatogenic failure 61",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112353",
            "label": "spermatogenic failure 64",
            "link_status": true,
            "children": []
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            "id": "DOID:0112352",
            "label": "spermatogenic failure 58",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112355",
            "label": "spermatogenic failure 60",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112354",
            "label": "spermatogenic failure 65",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112357",
            "label": "spermatogenic failure 59",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112356",
            "label": "spermatogenic failure 63",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112358",
            "label": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",
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            "children": []
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        {
            "id": "DOID:0080786",
            "label": "Brown-Vialetto-Van Laere syndrome 2",
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            "children": []
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        {
            "id": "DOID:0080785",
            "label": "Brown-Vialetto-Van Laere syndrome 1",
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            "children": []
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        {
            "id": "DOID:0080140",
            "label": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
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            "children": []
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            "id": "DOID:0080141",
            "label": "mosaic variegated aneuploidy syndrome 1",
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            "children": []
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        {
            "id": "DOID:0070147",
            "label": "hereditary sensory neuropathy type 2C",
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            "children": []
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        {
            "id": "DOID:0070146",
            "label": "hereditary sensory neuropathy type 4",
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            "children": []
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            "id": "DOID:0070145",
            "label": "hereditary sensory and autonomic neuropathy type 5",
            "link_status": true,
            "children": []
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            "id": "DOID:0070144",
            "label": "autosomal recessive cutis laxa type I",
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                {
                    "id": "DOID:0070139",
                    "label": "autosomal recessive cutis laxa type IC",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0070135",
                    "label": "autosomal recessive cutis laxa type IA",
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                    "children": []
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                {
                    "id": "DOID:0070133",
                    "label": "autosomal recessive cutis laxa type IB",
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                    "children": []
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        {
            "id": "DOID:0070143",
            "label": "autosomal recessive cutis laxa type III",
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                {
                    "id": "DOID:0070138",
                    "label": "autosomal recessive cutis laxa type IIIB",
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                    "children": []
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                {
                    "id": "DOID:0070132",
                    "label": "autosomal recessive cutis laxa type IIIA",
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                    "children": []
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            "id": "DOID:0070141",
            "label": "autosomal recessive cutis laxa type II classic type",
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                    "id": "DOID:0070129",
                    "label": "autosomal recessive cutis laxa type IID",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0070134",
                    "label": "autosomal recessive cutis laxa type IIA",
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                    "children": []
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                {
                    "id": "DOID:0070140",
                    "label": "autosomal recessive cutis laxa type IIC",
                    "link_status": true,
                    "children": []
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        {
            "id": "DOID:0050576",
            "label": "Senior-Loken syndrome",
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            "children": []
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            "id": "DOID:0050577",
            "label": "cranioectodermal dysplasia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080805",
                    "label": "cranioectodermal dysplasia 3",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0080804",
                    "label": "cranioectodermal dysplasia 2",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0080806",
                    "label": "cranioectodermal dysplasia 4",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0080803",
                    "label": "cranioectodermal dysplasia 1",
                    "link_status": true,
                    "children": []
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        {
            "id": "DOID:0050579",
            "label": "glycogen storage disease XV",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112194",
            "label": "Filippi syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0090004",
            "label": "progressive pseudorheumatoid arthropathy of childhood",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0090005",
            "label": "Schwartz-Jampel syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090007",
            "label": "immunodeficiency-centromeric instability-facial anomalies syndrome",
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            "children": [
                {
                    "id": "DOID:0090011",
                    "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090010",
                    "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0090008",
                    "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 1",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0090009",
                    "label": "immunodeficiency-centromeric instability-facial anomalies syndrome 2",
                    "link_status": true,
                    "children": []
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        {
            "id": "DOID:0090001",
            "label": "Fraser syndrome",
            "link_status": true,
            "children": [
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                    "id": "DOID:0111405",
                    "label": "Fraser syndrome 1",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0111407",
                    "label": "Fraser syndrome 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111406",
                    "label": "Fraser syndrome 3",
                    "link_status": true,
                    "children": []
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        {
            "id": "DOID:0090003",
            "label": "agenesis of the corpus callosum with peripheral neuropathy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060775",
            "label": "microvillus inclusion disease",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060779",
            "label": "congenital malabsorptive diarrhea 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060778",
            "label": "congenital diarrhea 7 with exudative enteropathy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2217",
            "label": "Bernard-Soulier syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0111059",
                    "label": "Bernard-Soulier syndrome type A2",
                    "link_status": true,
                    "children": []
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            ]
        },
        {
            "id": "DOID:0060788",
            "label": "hypomyelinating leukodystrophy 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060789",
            "label": "hypomyelinating leukodystrophy 4",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060787",
            "label": "hypomyelinating leukodystrophy 2",
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            "children": []
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            "id": "DOID:0060781",
            "label": "congenital secretory sodium diarrhea 3",
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            "children": []
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            "id": "DOID:0081274",
            "label": "peroxisome biogenesis disorder 14B",
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            "children": []
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            "id": "DOID:0081276",
            "label": "cerebellar atrophy, visual impairment, and psychomotor retardation",
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            "children": []
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            "id": "DOID:0081272",
            "label": "Sandestig-Stefanova syndrome",
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            "children": []
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            "id": "DOID:0110380",
            "label": "retinitis pigmentosa 62",
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            "children": []
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        {
            "id": "DOID:0110381",
            "label": "retinitis pigmentosa 14",
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            "children": []
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        {
            "id": "DOID:0110383",
            "label": "retinitis pigmentosa 7",
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            "children": []
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        {
            "id": "DOID:0110384",
            "label": "retinitis pigmentosa 25",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110389",
            "label": "retinitis pigmentosa 73",
            "link_status": true,
            "children": []
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            "id": "DOID:0111389",
            "label": "mucopolysaccharidosis Ih/s",
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            "children": []
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            "id": "DOID:0080318",
            "label": "megalencephalic leukoencephalopathy with subcortical cysts 2A",
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            "children": []
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            "id": "DOID:0080316",
            "label": "megalencephalic leukoencephalopathy with subcortical cysts 1",
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            "children": []
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            "id": "DOID:0111527",
            "label": "spinal muscular atrophy with progressive myoclonic epilepsy",
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            "children": []
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            "id": "DOID:0111524",
            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5",
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            "children": []
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            "id": "DOID:0111523",
            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3",
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            "children": []
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            "id": "DOID:0111522",
            "label": "autosomal recessive progressive external ophthalmoplegia 1",
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            "children": []
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            "id": "DOID:0060571",
            "label": "Ritscher-Schinzel syndrome 1",
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            "children": []
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            "id": "DOID:0070526",
            "label": "PLACK syndrome",
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            "children": []
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            "id": "DOID:0111557",
            "label": "Charcot-Marie-Tooth disease type 2A2B",
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            "children": []
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            "id": "DOID:0081061",
            "label": "nephrogenic diabetes insipidus type 2",
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            "children": []
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            "id": "DOID:0111555",
            "label": "Alkuraya-Kucinskas syndrome",
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            "children": []
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            "id": "DOID:0080576",
            "label": "spondyloepimetaphyseal dysplasia, Genevieve-type",
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            "id": "DOID:10241",
            "label": "thalassemia",
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                {
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                    "label": "alpha thalassemia",
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                            "id": "DOID:0110030",
                            "label": "alpha thalassemia-X-linked intellectual disability syndrome",
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                            "children": []
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                            "id": "DOID:0110031",
                            "label": "hemoglobin H disease",
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                            "children": []
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                    "id": "DOID:12241",
                    "label": "beta thalassemia",
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                        {
                            "id": "DOID:0080771",
                            "label": "beta-thalassemia major",
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                            "children": []
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                            "id": "DOID:0080773",
                            "label": "delta beta-thalassemia",
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                            "children": []
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                            "id": "DOID:0080770",
                            "label": "autosomal dominant beta thalassemia",
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                            "children": []
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            "id": "DOID:0080350",
            "label": "retinitis pigmentosa 77",
            "link_status": true,
            "children": []
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            "id": "DOID:0080758",
            "label": "Fanconi renotubular syndrome 2",
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            "children": []
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            "id": "DOID:0050883",
            "label": "infantile cerebellar-retinal degeneration",
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            "children": []
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        {
            "id": "DOID:0050886",
            "label": "Troyer syndrome",
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            "children": []
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            "id": "DOID:0080751",
            "label": "keratosis pilaris atrophicans",
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                {
                    "id": "DOID:0080753",
                    "label": "keratosis follicularis spinulosa decalvans",
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                        {
                            "id": "DOID:0080754",
                            "label": "X-linked keratosis follicularis spinulosa decalvans",
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                            "children": []
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        {
            "id": "DOID:0111732",
            "label": "Eiken syndrome",
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            "children": []
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            "id": "DOID:0050558",
            "label": "Ullrich congenital muscular dystrophy",
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                    "id": "DOID:0060948",
                    "label": "Ullrich congenital muscular dystrophy 2",
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                    "children": []
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                    "id": "DOID:0060946",
                    "label": "Ullrich congenital muscular dystrophy 1A",
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                    "children": []
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                {
                    "id": "DOID:0060942",
                    "label": "Ullrich congenital muscular dystrophy 1B",
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                    "children": []
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                {
                    "id": "DOID:0060943",
                    "label": "Ullrich congenital muscular dystrophy 1C",
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                    "children": []
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            "id": "DOID:0080107",
            "label": "microcephaly and chorioretinopathy 3",
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            "children": []
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            "id": "DOID:0050553",
            "label": "proteasome-associated autoinflammatory syndrome 1",
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            "children": []
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            "id": "DOID:0090026",
            "label": "split hand-foot malformation 6",
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            "children": []
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            "id": "DOID:0090024",
            "label": "split hand-foot malformation 1 with sensorineural hearing loss",
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            "children": []
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            "id": "DOID:0110796",
            "label": "hereditary spastic paraplegia 44",
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            "children": []
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            "id": "DOID:0110673",
            "label": "congenital myasthenic syndrome 19",
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            "children": []
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            "id": "DOID:0110790",
            "label": "hereditary spastic paraplegia 39",
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            "children": []
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            "id": "DOID:0112254",
            "label": "hepatic venoocclusive disease with immunodeficiency",
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            "children": []
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        {
            "id": "DOID:0112255",
            "label": "homocystinuria-megaloblastic anemia cblE type",
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            "children": []
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        {
            "id": "DOID:0112256",
            "label": "homocystinuria-megaloblastic anemia cblG type",
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            "children": []
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        {
            "id": "DOID:0112257",
            "label": "hydroxykynureninuria",
            "link_status": true,
            "children": []
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            "id": "DOID:0112251",
            "label": "Ghosal hematodiaphyseal syndrome",
            "link_status": true,
            "children": []
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            "id": "DOID:0112252",
            "label": "congenital nonspherocytic hemolytic anemia 6",
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            "children": []
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            "id": "DOID:0112253",
            "label": "combined cellular and humoral immune defects with granulomas",
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            "children": []
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            "id": "DOID:0112258",
            "label": "N-acetylglutamate synthase deficiency",
            "link_status": true,
            "children": []
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            "id": "DOID:0112259",
            "label": "Leydig cell hypoplasia",
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            "children": [
                {
                    "id": "DOID:0112260",
                    "label": "Leydig cell hypoplasia type I",
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                    "children": []
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            "id": "DOID:3529",
            "label": "congenital myopathy 1A",
            "link_status": true,
            "children": []
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            "id": "DOID:0050763",
            "label": "ARC syndrome",
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                    "id": "DOID:0111354",
                    "label": "arthrogryposis, renal dysfunction, and cholestasis 2",
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                    "children": []
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                {
                    "id": "DOID:0111353",
                    "label": "arthrogryposis, renal dysfunction, and cholestasis 1",
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                    "children": []
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            "id": "DOID:0050943",
            "label": "spastic ataxia 4",
            "link_status": true,
            "children": []
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            "id": "DOID:0050942",
            "label": "spastic ataxia 3",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111501",
            "label": "combined oxidative phosphorylation deficiency 29",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111500",
            "label": "combined oxidative phosphorylation deficiency 23",
            "link_status": true,
            "children": []
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            "id": "DOID:0070543",
            "label": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",
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            "children": []
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        {
            "id": "DOID:0070541",
            "label": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070540",
            "label": "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency",
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            "children": []
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            "id": "DOID:0081046",
            "label": "frontonasal dysplasia 2",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0081047",
            "label": "frontonasal dysplasia 3",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0081045",
            "label": "frontonasal dysplasia 1",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111592",
            "label": "plasminogen deficiency type I",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0111590",
            "label": "Cohen syndrome",
            "link_status": true,
            "children": []
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            "id": "DOID:0060558",
            "label": "lethal congenital contracture syndrome",
            "link_status": true,
            "children": [
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                    "id": "DOID:0060560",
                    "label": "lethal congenital contracture syndrome 2",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0060654",
                    "label": "lethal congenital contracture syndrome 4",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0060653",
                    "label": "lethal congenital contracture syndrome 3",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0060559",
                    "label": "lethal congenital contracture syndrome 1",
                    "link_status": true,
                    "children": []
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        {
            "id": "DOID:0060556",
            "label": "Kufor-Rakeb syndrome",
            "link_status": true,
            "children": []
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            "id": "DOID:0060551",
            "label": "poikiloderma with neutropenia",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060889",
            "label": "prune belly syndrome",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080887",
            "label": "vitamin D-dependent rickets type 1B",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061069",
            "label": "immunodeficiency 99",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061062",
            "label": "immunodeficiency 92",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061063",
            "label": "immunodeficiency 93",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061060",
            "label": "immunodeficiency 90",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061061",
            "label": "immunodeficiency 91",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0061066",
            "label": "immunodeficiency 96",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061067",
            "label": "immunodeficiency 97",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061065",
            "label": "immunodeficiency 95",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:2738",
            "label": "pseudoxanthoma elasticum",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110735",
            "label": "neurodegeneration with brain iron accumulation 2a",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110736",
            "label": "neurodegeneration with brain iron accumulation 2b",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080870",
            "label": "primary ovarian insufficiency 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110731",
            "label": "neuronal ceroid lipofuscinosis 3",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080872",
            "label": "primary ovarian insufficiency 15",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110732",
            "label": "neuronal ceroid lipofuscinosis 11",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0080295",
            "label": "short-rib thoracic dysplasia 19 with or without polydactyly",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080296",
            "label": "hypomyelinating leukodystrophy 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080292",
            "label": "retinitis pigmentosa 81",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080293",
            "label": "short-rib thoracic dysplasia 18 with polydactyly",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060641",
            "label": "endocrine-cerebro-osteodysplasia syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080128",
            "label": "mitochondrial DNA depletion syndrome 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080129",
            "label": "mitochondrial DNA depletion syndrome 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060647",
            "label": "fetal encasement syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080122",
            "label": "Alpers-Huttenlocher syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080123",
            "label": "mitochondrial DNA depletion syndrome 4b",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080120",
            "label": "mitochondrial DNA depletion syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080126",
            "label": "mitochondrial DNA depletion syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080127",
            "label": "mitochondrial DNA depletion syndrome 8a",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080124",
            "label": "mitochondrial DNA depletion syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080125",
            "label": "mitochondrial DNA depletion syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090048",
            "label": "dystonia 16",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090043",
            "label": "dopa-responsive dystonia",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112069",
            "label": "nuclear type mitochondrial complex I deficiency 22",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112068",
            "label": "nuclear type mitochondrial complex I deficiency 5",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112067",
            "label": "nuclear type mitochondrial complex I deficiency 25",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112066",
            "label": "nuclear type mitochondrial complex I deficiency 6",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0112062",
            "label": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110936",
            "label": "nemaline myopathy 5A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110934",
            "label": "nemaline myopathy 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110933",
            "label": "nemaline myopathy 11",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0110931",
            "label": "nemaline myopathy 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110930",
            "label": "nemaline myopathy 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110939",
            "label": "autosomal recessive osteopetrosis 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070024",
            "label": "autosomal recessive dyskeratosis congenita 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070022",
            "label": "autosomal recessive dyskeratosis congenita 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081238",
            "label": "acromesomelic dysplasia 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081237",
            "label": "acromesomelic dysplasia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080464",
            "label": "developmental and epileptic encephalopathy 53",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110342",
            "label": "osteogenesis imperfecta type 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080460",
            "label": "developmental and epileptic encephalopathy 34",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110348",
            "label": "osteogenesis imperfecta type 12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110349",
            "label": "osteogenesis imperfecta type 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112272",
            "label": "spermatogenic failure 50",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112270",
            "label": "spermatogenic failure 52",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112271",
            "label": "spermatogenic failure 49",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112277",
            "label": "immunodeficiency 79",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112278",
            "label": "primary ovarian insufficiency 19",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112279",
            "label": "spermatogenic failure 53",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110161",
            "label": "Charcot-Marie-Tooth disease type 2R",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080607",
            "label": "anterior segment dysgenesis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110169",
            "label": "Charcot-Marie-Tooth disease axonal type 2P",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111566",
            "label": "familial isolated trichomegaly",
            "link_status": true,
            "children": []
        },
        {
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    "crossref": [
        {
            "id": "DOID:0050737",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050737",
            "categories": []
        }
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        {
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            "uniprot_ac": "Q5I1X5",
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            ],
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                {
                    "name": "NFkB interacting protein 1; protein iASPP; PPP1R13B-like protein; inhibitor of ASPP protein; protein phosphatase 1, regulatory (inhibitor) subunit 13 like",
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                    "type": "synonym"
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                {
                    "name": "NFkB-interacting protein 1",
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                {
                    "name": "PPP1R13B-like protein",
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                    "name": "Protein iASPP",
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                {
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                {
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                {
                    "name": "IASPP; Nkip1; wa3",
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                {
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                    "type": "synonym"
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                {
                    "name": "Ppp1r13l",
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                }
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                {
                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050737"
                }
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        {
            "uniprot_canonical_ac": "Q6DFV1-1",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Condensin-2 complex subunit G2",
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                    "name": "CAP-G2",
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                {
                    "name": "Chromosome-associated protein G2",
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                {
                    "name": "Leucine zipper protein 5",
                    "resource": "UniProtKB",
                    "type": "synonym"
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                {
                    "name": "More than blood protein",
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                    "type": "synonym"
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                {
                    "name": "Non-SMC condensin II complex subunit G2",
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                {
                    "name": "condensin-2 complex subunit G2",
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                    "type": "synonym"
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                {
                    "name": "leucine zipper protein 5; more than blood protein; chromosome-associated protein G2",
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                {
                    "name": "Ncapg2",
                    "resource": "UniProtKB",
                    "type": "recommended"
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                {
                    "name": "5830426I05Rik; CAP-G2; Luzp5; mCAP-G2; Mtb",
                    "resource": "RefSeq",
                    "type": "synonym"
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                {
                    "name": "Luzp5",
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                {
                    "name": "Mtb",
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                {
                    "name": "Ncapg2",
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                {
                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050737"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q86XI2-1",
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            "glycoprotein": "yes",
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                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                {
                    "name": "Condensin-2 complex subunit G2",
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                    "name": "CAP-G2",
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                {
                    "name": "Chromosome-associated protein G2",
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                {
                    "name": "Leucine zipper protein 5",
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                    "type": "synonym"
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                {
                    "name": "Non-SMC condensin II complex subunit G2",
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                {
                    "name": "condensin-2 complex subunit G2 isoform a",
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                    "type": "synonym"
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                {
                    "name": "hCAP-G2",
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                    "type": "synonym"
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                {
                    "name": "leucine zipper protein 5; more than blood homolog; condensin-2 complex subunit G2; chromosome-associated protein G2",
                    "resource": "RefSeq",
                    "type": "synonym"
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                {
                    "name": "3KS; CAP-G2; CAPG2; hCAP-G2; LUZP5; MTB",
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                    "type": "synonym"
                },
                {
                    "name": "LUZP5",
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                    "name": "NCAPG2",
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                {
                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050737"
                }
            ]
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        {
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                }
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                    "name": "RelA-associated inhibitor",
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                {
                    "name": "NFkB-interacting protein 1",
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                {
                    "name": "PPP1R13B-like protein",
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                {
                    "name": "Protein iASPP",
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                {
                    "name": "relA-associated inhibitor",
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                {
                    "name": "retinoic acid induced 4; NFkB interacting protein 1; inhibitor of apoptosis stimulating protein of p53; protein iASPP; PPP1R13B-like protein; inhibitor of ASPP protein; protein phosphatase 1, regulatory (inhibitor) subunit 13 like",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "PPP1R13L",
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                    "type": "recommended"
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                {
                    "name": "ARCME; CMAEA; IASPP; NKIP1; RAI; RAI4",
                    "resource": "RefSeq",
                    "type": "synonym"
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                {
                    "name": "IASPP",
                    "resource": "UniProtKB",
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                {
                    "name": "NKIP1",
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                {
                    "name": "PPP1R13BL",
                    "resource": "UniProtKB",
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                {
                    "name": "PPP1R13L",
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                {
                    "name": "RAI",
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            ],
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                {
                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050737"
                }
            ]
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                    "name": "CAP-G2",
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                {
                    "name": "Chromosome-associated protein G2",
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                {
                    "name": "Non-SMC condensin II complex subunit G2",
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                {
                    "name": "condensin-2 complex subunit G2",
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                    "name": "ncapg2",
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                {
                    "name": "zgc:162881",
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            ],
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                {
                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050737"
                }
            ]
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        {
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                }
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                    "name": "RelA-associated inhibitor isoform X1",
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                    "name": "relA-associated inhibitor isoform X1",
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                    "name": "ppp1r13l",
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                    "name": "zgc:113058",
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                    "name": "zgc:113058",
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                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
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                }
            ]
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                    "name": "Rattus norvegicus",
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                {
                    "name": "Ncapg2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050737"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LW07-1",
            "uniprot_ac": "F1LW07",
            "uniprot_id": "F1LW07_RAT",
            "refseq_ac": "NP_001414059",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase 1, regulatory subunit 13 like",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "relA-associated inhibitor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppp1r13l",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ppp1r13l",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0050737",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050737"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050737"
}
