{ "disease_id": "DOID:0014667", "recommended_name": { "id": "DOID:0014667", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules." }, "synonyms": [ { "id": "DOID:0014667", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0014667", "name": "metabolic disease", "description": "" } ], "children": [ { "id": "DOID:0060158", "label": "acquired metabolic disease", "link_status": true, "children": [ { "id": "DOID:0050032", "label": "mineral metabolism disease", "link_status": false, "children": [ { "id": "DOID:10575", "label": "calcium metabolism disease", "link_status": false, "children": [ { "id": "DOID:12678", "label": "hypercalcemia", "link_status": true, "children": [ { "id": "DOID:0060699", "label": "familial hypocalciuric hypercalcemia", "link_status": true, "children": [ { "id": "DOID:0060700", "label": "familial hypocalciuric hypercalcemia 1", "link_status": true, "children": [] }, { "id": "DOID:0060701", "label": "familial hypocalciuric hypercalcemia 2", "link_status": true, "children": [] }, { "id": "DOID:0060702", "label": "familial hypocalciuric hypercalcemia 3", "link_status": true, "children": [] } ] }, { "id": "DOID:0061135", "label": "infantile hypercalcemia 2", "link_status": true, "children": [] }, { "id": "DOID:0061136", "label": "infantile hypercalcemia 1", "link_status": true, "children": [] } ] }, { "id": "DOID:182", "label": "calcinosis", "link_status": true, "children": [ { "id": "DOID:0080170", "label": "normophosphatemic familial tumoral calcinosis", "link_status": true, "children": [] }, { "id": "DOID:0111063", "label": "hyperphosphatemic familial tumoral calcinosis", "link_status": true, "children": [] }, { "id": "DOID:6652", "label": "diffuse idiopathic skeletal hyperostosis", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:2351", "label": "iron metabolism disease", "link_status": true, "children": [ { "id": "DOID:0050711", "label": "aceruloplasminemia", "link_status": true, "children": [] }, { "id": "DOID:12119", "label": "hemosiderosis", "link_status": true, "children": [] } ] }, { "id": "DOID:2485", "label": "phosphorus metabolism disease", "link_status": false, "children": [ { "id": "DOID:0050336", "label": "hypophosphatemia", "link_status": true, "children": [] }, { "id": "DOID:0050459", "label": "hyperphosphatemia", "link_status": true, "children": [] } ] }, { "id": "DOID:4500", "label": "hypokalemia", "link_status": true, "children": [] } ] }, { "id": "DOID:0050758", "label": "metabolic acidosis", "link_status": true, "children": [ { "id": "DOID:1837", "label": "diabetic ketoacidosis", "link_status": true, "children": [] }, { "id": "DOID:3650", "label": "lactic acidosis", "link_status": true, "children": [] } ] }, { "id": "DOID:12700", "label": "hyperprolactinemia", "link_status": true, "children": [] }, { "id": "DOID:1920", "label": "hyperuricemia", "link_status": true, "children": [ { "id": "DOID:0112127", "label": "HRPT-related hyperuricemia", "link_status": true, "children": [] } ] }, { "id": "DOID:374", "label": "nutrition disease", "link_status": true, "children": [ { "id": "DOID:5113", "label": "nutritional deficiency disease", "link_status": true, "children": [ { "id": "DOID:0050083", "label": "Keshan disease", "link_status": true, "children": [] }, { "id": "DOID:0070313", "label": "thiamine deficiency disease", "link_status": false, "children": [ { "id": "DOID:10915", "label": "Wernicke-Korsakoff syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:11249", "label": "vitamin K deficiency bleeding", "link_status": true, "children": [] }, { "id": "DOID:11801", "label": "protein-energy malnutrition", "link_status": true, "children": [] }, { "id": "DOID:13381", "label": "pernicious anemia", "link_status": true, "children": [] }, { "id": "DOID:14026", "label": "folic acid deficiency anemia", "link_status": true, "children": [] }, { "id": "DOID:8454", "label": "riboflavin deficiency", "link_status": true, "children": [] }, { "id": "DOID:8455", "label": "pyridoxine deficiency anemia", "link_status": true, "children": [] }, { "id": "DOID:8456", "label": "choline deficiency disease", "link_status": true, "children": [] }, { "id": "DOID:8457", "label": "pellagra", "link_status": true, "children": [] } ] }, { "id": "DOID:654", "label": "overnutrition", "link_status": true, "children": [ { "id": "DOID:9970", "label": "obesity", "link_status": true, "children": [ { "id": "DOID:11981", "label": "morbid obesity", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:9969", "label": "carotenemia", "link_status": true, "children": [] } ] }, { "id": "DOID:0061212", "label": "hypocholesteremia", "link_status": true, "children": [] }, { "id": "DOID:655", "label": "inherited metabolic disorder", "link_status": true, "children": [ { "id": "DOID:0050636", "label": "hereditary systemic amyloidosis 2", "link_status": true, "children": [] }, { "id": "DOID:0050638", "label": "hereditary systemic amyloidosis 1", "link_status": true, "children": [] }, { "id": "DOID:0050639", "label": "primary cutaneous amyloidosis", "link_status": true, "children": [ { "id": "DOID:0050637", "label": "Finnish type amyloidosis", "link_status": true, "children": [] }, { "id": "DOID:0080930", "label": "primary localized cutaneous amyloidosis 1", "link_status": true, "children": [] }, { "id": "DOID:0080931", "label": "primary localized cutaneous amyloidosis 2", "link_status": true, "children": [] }, { "id": "DOID:0080932", "label": "primary localized cutaneous amyloidosis 3", "link_status": true, "children": [] } ] }, { "id": "DOID:0050711", "label": "aceruloplasminemia", "link_status": true, "children": [] }, { "id": "DOID:0050718", "label": "vitamin metabolic disorder", "link_status": true, "children": [ { "id": "DOID:0050719", "label": "cerebral folate receptor alpha deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050731", "label": "vitamin B12 deficiency", "link_status": true, "children": [ { "id": "DOID:0050734", "label": "congenital intrinsic factor deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050818", "label": "transcobalamin II deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:0061185", "label": "autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia", "link_status": true, "children": [] }, { "id": "DOID:0070742", "label": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "link_status": true, "children": [] }, { "id": "DOID:0090028", "label": "familial isolated deficiency of vitamin E", "link_status": true, "children": [] }, { "id": "DOID:0111329", "label": "pyridoxamine 5'-phosphate oxidase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111678", "label": "hereditary folate malabsorption", "link_status": true, "children": [] }, { "id": "DOID:0111679", "label": "glutamate formiminotransferase deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:0050832", "label": "pyrimidine metabolic disorder", "link_status": false, "children": [ { "id": "DOID:0050833", "label": "orotic aciduria", "link_status": true, "children": [] }, { "id": "DOID:0111629", "label": "dihydropyrimidinase deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:0060358", "label": "multiple acyl-CoA dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060363", "label": "glycerol kinase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060699", "label": "familial hypocalciuric hypercalcemia", "link_status": true, "children": [ { "id": "DOID:0060700", "label": "familial hypocalciuric hypercalcemia 1", "link_status": true, "children": [] }, { "id": "DOID:0060701", "label": "familial hypocalciuric hypercalcemia 2", "link_status": true, "children": [] }, { "id": "DOID:0060702", "label": "familial hypocalciuric hypercalcemia 3", "link_status": true, "children": [] } ] }, { "id": "DOID:0061135", "label": "infantile hypercalcemia 2", "link_status": true, "children": [] }, { "id": "DOID:0061136", "label": "infantile hypercalcemia 1", "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": [] } ] }, { "id": "DOID:0080361", "label": "trimethylaminuria", "link_status": true, "children": [] }, { "id": "DOID:0080665", "label": "warfarin resistance", "link_status": true, "children": [] }, { "id": "DOID:0080666", "label": "warfarin sensitivity", "link_status": true, "children": [] }, { "id": "DOID:0080839", "label": "X-linked warfarin sensitivity", "link_status": true, "children": [] }, { "id": "DOID:0080933", "label": "immunoglobulin light chain amyloidosis", "link_status": true, "children": [] }, { "id": "DOID:0090123", "label": "aromatic L-amino acid decarboxylase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0090145", "label": "dopamine beta-hydroxylase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111063", "label": "hyperphosphatemic familial tumoral calcinosis", "link_status": true, "children": [] }, { "id": "DOID:0111260", "label": "phosphoribosylpyrophosphate synthetase superactivity", "link_status": true, "children": [] }, { "id": "DOID:0111270", "label": "isolated sulfite oxidase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111338", "label": "isolated elevated serum creatine phosphokinase levels", "link_status": true, "children": [] }, { "id": "DOID:0111587", "label": "Gordon Holmes syndrome", "link_status": true, "children": [] }, { "id": "DOID:0111588", "label": "Greenberg dysplasia", "link_status": true, "children": [] }, { "id": "DOID:0111626", "label": "D-glyceric aciduria", "link_status": true, "children": [] }, { "id": "DOID:0112127", "label": "HRPT-related hyperuricemia", "link_status": true, "children": [] }, { "id": "DOID:13268", "label": "porphyria", "link_status": true, "children": [ { "id": "DOID:13271", "label": "cutaneous porphyria", "link_status": true, "children": [] }, { "id": "DOID:3133", "label": "acute porphyria", "link_status": true, "children": [ { "id": "DOID:13269", "label": "hereditary coproporphyria", "link_status": true, "children": [] }, { "id": "DOID:13270", "label": "erythropoietic protoporphyria", "link_status": true, "children": [] }, { "id": "DOID:3132", "label": "porphyria cutanea tarda", "link_status": true, "children": [] }, { "id": "DOID:3890", "label": "acute intermittent porphyria", "link_status": true, "children": [] }, { "id": "DOID:4346", "label": "variegate porphyria", "link_status": true, "children": [] }, { "id": "DOID:5230", "label": "hepatoerythropoietic porphyria", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:2345", "label": "plasma protein metabolism disease", "link_status": false, "children": [ { "id": "DOID:0111583", "label": "carboxypeptidase N deficiency", "link_status": true, "children": [] }, { "id": "DOID:13372", "label": "alpha 1-antitrypsin deficiency", "link_status": true, "children": [] }, { "id": "DOID:2344", "label": "polyclonal hypergammaglobulinemia", "link_status": true, "children": [] } ] }, { "id": "DOID:2741", "label": "bilirubin metabolic disorder", "link_status": true, "children": [ { "id": "DOID:12308", "label": "Dubin-Johnson syndrome", "link_status": true, "children": [] }, { "id": "DOID:2739", "label": "Gilbert syndrome", "link_status": true, "children": [] }, { "id": "DOID:3803", "label": "Crigler-Najjar syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:2978", "label": "carbohydrate metabolic disorder", "link_status": true, "children": [ { "id": "DOID:0050728", "label": "glycogen metabolism disorder", "link_status": false, "children": [ { "id": "DOID:2747", "label": "glycogen storage disease", "link_status": true, "children": [ { "id": "DOID:0050579", "label": "glycogen storage disease XV", "link_status": true, "children": [] }, { "id": "DOID:0050594", "label": "glycogen storage disease IX", "link_status": false, "children": [ { "id": "DOID:0111040", "label": "glycogen storage disease IXd", "link_status": true, "children": [] }, { "id": "DOID:0111041", "label": "glycogen storage disease IXb", "link_status": true, "children": [] }, { "id": "DOID:0111042", "label": "glycogen storage disease IXa1", "link_status": true, "children": [] }, { "id": "DOID:0111043", "label": "glycogen storage disease IXc", "link_status": true, "children": [] } ] }, { "id": "DOID:0061271", "label": "liver glycogen storage disease", "link_status": true, "children": [] }, { "id": "DOID:0061272", "label": "muscle glycogen storage disease", "link_status": true, "children": [] }, { "id": "DOID:0061285", "label": "glycogen storage disease X", "link_status": true, "children": [] }, { "id": "DOID:0061286", "label": "glycogen storage disease XI", "link_status": true, "children": [] }, { "id": "DOID:0061287", "label": "glycogen storage disease XII", "link_status": true, "children": [] }, { "id": "DOID:0061288", "label": "glycogen storage disease XIII", "link_status": true, "children": [] }, { "id": "DOID:0081329", "label": "glycogen storage disease I", "link_status": false, "children": [ { "id": "DOID:0081330", "label": "glycogen storage disease Ib", "link_status": true, "children": [] }, { "id": "DOID:0081331", "label": "glycogen storage disease Ic", "link_status": true, "children": [] }, { "id": "DOID:2749", "label": "glycogen storage disease Ia", "link_status": true, "children": [] } ] }, { "id": "DOID:0090101", "label": "lethal congenital glycogen storage disease of heart", "link_status": true, "children": [] }, { "id": "DOID:11721", "label": "glycogen storage disease VII", "link_status": true, "children": [] }, { "id": "DOID:2746", "label": "glycogen storage disease V", "link_status": true, "children": [] }, { "id": "DOID:2748", "label": "glycogen storage disease III", "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:2754", "label": "glycogen storage disease VI", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:0060991", "label": "congenital disorder of deglycosylation", "link_status": true, "children": [ { "id": "DOID:0060728", "label": "congenital disorder of deglycosylation 1", "link_status": true, "children": [] }, { "id": "DOID:0060990", "label": "congenital disorder of deglycosylation 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0111633", "label": "congenital sucrase-isomaltase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111646", "label": "congenital lactase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111680", "label": "essential fructosuria", "link_status": true, "children": [] }, { "id": "DOID:10604", "label": "lactose intolerance", "link_status": true, "children": [] }, { "id": "DOID:2862", "label": "glucosephosphate dehydrogenase deficiency", "link_status": true, "children": [ { "id": "DOID:13628", "label": "favism", "link_status": true, "children": [] } ] }, { "id": "DOID:2977", "label": "primary hyperoxaluria", "link_status": true, "children": [ { "id": "DOID:0111670", "label": "primary hyperoxaluria type 1", "link_status": true, "children": [] }, { "id": "DOID:0111671", "label": "primary hyperoxaluria type 2", "link_status": true, "children": [] }, { "id": "DOID:0111672", "label": "primary hyperoxaluria type 3", "link_status": true, "children": [] } ] }, { "id": "DOID:3649", "label": "pyruvate decarboxylase deficiency", "link_status": true, "children": [] }, { "id": "DOID:3651", "label": "pyruvate carboxylase deficiency disease", "link_status": true, "children": [] }, { "id": "DOID:4194", "label": "glucose metabolism disease", "link_status": true, "children": [ { "id": "DOID:0050884", "label": "triosephosphate isomerase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070560", "label": "glucose transporter type 1 deficiency syndrome", "link_status": true, "children": [ { "id": "DOID:0070561", "label": "glucose transporter type 1 deficiency syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0090044", "label": "dystonia 9", "link_status": true, "children": [] }, { "id": "DOID:0090045", "label": "glucose transporter type 1 deficiency syndrome 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0070562", "label": "Fanconi-Bickel syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070563", "label": "glucose-galactose malabsorption", "link_status": true, "children": [] }, { "id": "DOID:0111933", "label": "phosphoglycerate kinase 1 deficiency", "link_status": true, "children": [] }, { "id": "DOID:11716", "label": "prediabetes syndrome", "link_status": true, "children": [] }, { "id": "DOID:2018", "label": "hyperinsulinism", "link_status": true, "children": [] }, { "id": "DOID:4195", "label": "hyperglycemia", "link_status": true, "children": [ { "id": "DOID:10603", "label": "glucose intolerance", "link_status": true, "children": [] } ] }, { "id": "DOID:9351", "label": "diabetes mellitus", "link_status": true, "children": [ { "id": "DOID:0050524", "label": "maturity-onset diabetes of the young", "link_status": true, "children": [ { "id": "DOID:0111099", "label": "maturity-onset diabetes of the young type 1", "link_status": true, "children": [] }, { "id": "DOID:0111100", "label": "maturity-onset diabetes of the young type 2", "link_status": true, "children": [] }, { "id": "DOID:0111102", "label": "maturity-onset diabetes of the young type 3", "link_status": true, "children": [] }, { "id": "DOID:0111103", "label": "maturity-onset diabetes of the young type 4", "link_status": true, "children": [] }, { "id": "DOID:0111104", "label": "maturity-onset diabetes of the young type 6", "link_status": true, "children": [] }, { "id": "DOID:0111105", "label": "maturity-onset diabetes of the young type 8", "link_status": true, "children": [] }, { "id": "DOID:0111106", "label": "maturity-onset diabetes of the young type 7", "link_status": true, "children": [] }, { "id": "DOID:0111107", "label": "maturity-onset diabetes of the young type 9", "link_status": true, "children": [] }, { "id": "DOID:0111108", "label": "maturity-onset diabetes of the young type 10", "link_status": true, "children": [] }, { "id": "DOID:0111109", "label": "maturity-onset diabetes of the young type 11", "link_status": true, "children": [] }, { "id": "DOID:0111110", "label": "maturity-onset diabetes of the young type 13", "link_status": true, "children": [] }, { "id": "DOID:0111111", "label": "maturity-onset diabetes of the young type 14", "link_status": true, "children": [] } ] }, { "id": "DOID:11714", "label": "gestational diabetes", "link_status": true, "children": [] }, { "id": "DOID:11717", "label": "neonatal diabetes mellitus", "link_status": true, "children": [ { "id": "DOID:0060334", "label": "transient neonatal diabetes mellitus", "link_status": true, "children": [ { "id": "DOID:0061172", "label": "transient neonatal diabetes mellitus 3", "link_status": true, "children": [] }, { "id": "DOID:0061173", "label": "transient neonatal diabetes mellitus 1", "link_status": true, "children": [] }, { "id": "DOID:0061174", "label": "transient neonatal diabetes mellitus 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0060638", "label": "neonatal diabetes mellitus with congenital hypothyroidism", "link_status": true, "children": [] }, { "id": "DOID:0060639", "label": "permanent neonatal diabetes mellitus", "link_status": true, "children": [] } ] }, { "id": "DOID:9352", "label": "type 2 diabetes mellitus", "link_status": true, "children": [ { "id": "DOID:11712", "label": "lipoatrophic diabetes mellitus", "link_status": true, "children": [] } ] }, { "id": "DOID:9744", "label": "type 1 diabetes mellitus", "link_status": true, "children": [ { "id": "DOID:0080846", "label": "latent autoimmune diabetes in adults", "link_status": true, "children": [] }, { "id": "DOID:0110741", "label": "type 1 diabetes mellitus 2", "link_status": true, "children": [] }, { "id": "DOID:0110744", "label": "type 1 diabetes mellitus 5", "link_status": true, "children": [] }, { "id": "DOID:0110746", "label": "type 1 diabetes mellitus 7", "link_status": true, "children": [] }, { "id": "DOID:0110749", "label": "type 1 diabetes mellitus 10", "link_status": true, "children": [] }, { "id": "DOID:0110756", "label": "type 1 diabetes mellitus 19", "link_status": true, "children": [] }, { "id": "DOID:0110757", "label": "type 1 diabetes mellitus 20", "link_status": true, "children": [] }, { "id": "DOID:0110759", "label": "type 1 diabetes mellitus 22", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:9993", "label": "hypoglycemia", "link_status": true, "children": [ { "id": "DOID:0112262", "label": "leucine-sensitive hypoglycemia of infancy", "link_status": true, "children": [] }, { "id": "DOID:0112263", "label": "hypoinsulinemic hypoglycemia with hemihypertrophy", "link_status": true, "children": [] }, { "id": "DOID:13317", "label": "hyperinsulinemic hypoglycemia", "link_status": true, "children": [ { "id": "DOID:0070214", "label": "familial hyperinsulinemic hypoglycemia 7", "link_status": true, "children": [] }, { "id": "DOID:0070215", "label": "familial hyperinsulinemic hypoglycemia 4", "link_status": true, "children": [] }, { "id": "DOID:0070216", "label": "familial hyperinsulinemic hypoglycemia 3", "link_status": true, "children": [] }, { "id": "DOID:0070217", "label": "familial hyperinsulinemic hypoglycemia 6", "link_status": true, "children": [] }, { "id": "DOID:0070218", "label": "familial hyperinsulinemic hypoglycemia 2", "link_status": true, "children": [] }, { "id": "DOID:0070219", "label": "familial hyperinsulinemic hypoglycemia 1", "link_status": true, "children": [] }, { "id": "DOID:0070220", "label": "familial hyperinsulinemic hypoglycemia 5", "link_status": true, "children": [] }, { "id": "DOID:0081328", "label": "familial hyperinsulinemic hypoglycemia 8", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:5204", "label": "fructose-1,6-bisphosphatase deficiency", "link_status": true, "children": [] }, { "id": "DOID:5212", "label": "congenital disorder of glycosylation", "link_status": true, "children": [ { "id": "DOID:0050570", "label": "congenital disorder of glycosylation type I", "link_status": true, "children": [ { "id": "DOID:0080552", "label": "congenital disorder of glycosylation Ia", "link_status": true, "children": [] }, { "id": "DOID:0080553", "label": "congenital disorder of glycosylation Iaa", "link_status": true, "children": [] }, { "id": "DOID:0080554", "label": "congenital disorder of glycosylation Ib", "link_status": true, "children": [] }, { "id": "DOID:0080555", "label": "congenital disorder of glycosylation Ic", "link_status": true, "children": [] }, { "id": "DOID:0080556", "label": "congenital disorder of glycosylation Id", "link_status": true, "children": [] }, { "id": "DOID:0080557", "label": "congenital disorder of glycosylation Ie", "link_status": true, "children": [] }, { "id": "DOID:0080558", "label": "congenital disorder of glycosylation If", "link_status": true, "children": [] }, { "id": "DOID:0080559", "label": "congenital disorder of glycosylation Ig", "link_status": true, "children": [] }, { "id": "DOID:0080560", "label": "congenital disorder of glycosylation Ih", "link_status": true, "children": [] }, { "id": "DOID:0080561", "label": "congenital disorder of glycosylation Ii", "link_status": true, "children": [] }, { "id": "DOID:0080562", "label": "congenital disorder of glycosylation Ij", "link_status": true, "children": [] }, { "id": "DOID:0080563", "label": "congenital disorder of glycosylation Ik", "link_status": true, "children": [] }, { "id": "DOID:0080564", "label": "congenital disorder of glycosylation Il", "link_status": true, "children": [] }, { "id": "DOID:0080565", "label": "congenital disorder of glycosylation Im", "link_status": true, "children": [] }, { "id": "DOID:0080566", "label": "congenital disorder of glycosylation In", "link_status": true, "children": [] }, { "id": "DOID:0080567", "label": "congenital disorder of glycosylation Ip", "link_status": true, "children": [] }, { "id": "DOID:0080568", "label": "congenital disorder of glycosylation Iq", "link_status": true, "children": [] }, { "id": "DOID:0080569", "label": "congenital disorder of glycosylation Ir", "link_status": true, "children": [] }, { "id": "DOID:0080570", "label": "congenital disorder of glycosylation It", "link_status": true, "children": [] }, { "id": "DOID:0080571", "label": "congenital disorder of glycosylation Iu", "link_status": true, "children": [] }, { "id": "DOID:0080572", "label": "congenital disorder of glycosylation Iw", "link_status": true, "children": [] }, { "id": "DOID:0080573", "label": "congenital disorder of glycosylation Ix", "link_status": true, "children": [] }, { "id": "DOID:0080574", "label": "congenital disorder of glycosylation Iy", "link_status": true, "children": [] }, { "id": "DOID:0111839", "label": "congenital disorder of glycosylation Icc", "link_status": true, "children": [] } ] }, { "id": "DOID:0050571", "label": "congenital disorder of glycosylation type II", "link_status": true, "children": [ { "id": "DOID:0051047", "label": "congenital disorder of glycosylation type IIbb", "link_status": true, "children": [] }, { "id": "DOID:0051048", "label": "congenital disorder of glycosylation type IIr", "link_status": true, "children": [] }, { "id": "DOID:0051049", "label": "congenital disorder of glycosylation type IIt", "link_status": true, "children": [] }, { "id": "DOID:0051050", "label": "congenital disorder of glycosylation type IIv", "link_status": true, "children": [] }, { "id": "DOID:0051051", "label": "congenital disorder of glycosylation type IIw", "link_status": true, "children": [] }, { "id": "DOID:0051052", "label": "congenital disorder of glycosylation type IIy", "link_status": true, "children": [] }, { "id": "DOID:0051053", "label": "congenital disorder of glycosylation type IIz", "link_status": true, "children": [] }, { "id": "DOID:0070253", "label": "congenital disorder of glycosylation type IIa", "link_status": true, "children": [] }, { "id": "DOID:0070254", "label": "congenital disorder of glycosylation type IIb", "link_status": true, "children": [] }, { "id": "DOID:0070255", "label": "congenital disorder of glycosylation type IIc", "link_status": true, "children": [] }, { "id": "DOID:0070256", "label": "congenital disorder of glycosylation type IId", "link_status": true, "children": [] }, { "id": "DOID:0070257", "label": "congenital disorder of glycosylation type IIe", "link_status": true, "children": [] }, { "id": "DOID:0070258", "label": "congenital disorder of glycosylation type IIf", "link_status": true, "children": [] }, { "id": "DOID:0070259", "label": "congenital disorder of glycosylation type IIg", "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: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:0070264", "label": "congenital disorder of glycosylation type IIl", "link_status": true, "children": [] }, { "id": "DOID:0070265", "label": "congenital disorder of glycosylation type IIm", "link_status": true, "children": [] }, { "id": "DOID:0070266", "label": "congenital disorder of glycosylation type IIn", "link_status": true, "children": [] }, { "id": "DOID:0070267", "label": "congenital disorder of glycosylation type IIo", "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:0112321", "label": "alacrima, achalasia, and impaired intellectual development syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:857", "label": "multiple carboxylase deficiency", "link_status": false, "children": [ { "id": "DOID:856", "label": "biotinidase deficiency", "link_status": true, "children": [] }, { "id": "DOID:859", "label": "holocarboxylase synthetase deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:9869", "label": "hereditary fructose intolerance syndrome", "link_status": true, "children": [] }, { "id": "DOID:9870", "label": "galactosemia", "link_status": true, "children": [ { "id": "DOID:0060969", "label": "galactosemia 4", "link_status": true, "children": [] }, { "id": "DOID:0111458", "label": "galactose epimerase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111459", "label": "classic galactosemia", "link_status": true, "children": [] }, { "id": "DOID:14695", "label": "galactokinase deficiency", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:3146", "label": "lipid metabolism disorder", "link_status": true, "children": [ { "id": "DOID:0060235", "label": "carnitine palmitoyltransferase II deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060357", "label": "chylomicron retention disease", "link_status": true, "children": [] }, { "id": "DOID:0061186", "label": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070540", "label": "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070654", "label": "desmosterolosis", "link_status": true, "children": [] }, { "id": "DOID:0080153", "label": "medium chain acyl-CoA dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0080154", "label": "short chain acyl-CoA dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0080155", "label": "very long chain acyl-CoA dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0080503", "label": "multiple congenital anomalies-hypotonia-seizures syndrome", "link_status": true, "children": [ { "id": "DOID:0080138", "label": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0080139", "label": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0080140", "label": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "link_status": true, "children": [] }, { "id": "DOID:0112213", "label": "multiple congenital anomalies-hypotonia-seizures syndrome 4", "link_status": true, "children": [] } ] }, { "id": "DOID:0090129", "label": "carnitine palmitoyltransferase I deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111277", "label": "mitochondrial trifunctional protein deficiency", "link_status": true, "children": [ { "id": "DOID:0060999", "label": "mitochondrial trifunctional protein deficiency 2", "link_status": true, "children": [] }, { "id": "DOID:0070619", "label": "mitochondrial trifunctional protein deficiency 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0111368", "label": "cholesterol-ester transfer protein deficiency", "link_status": false, "children": [ { "id": "DOID:0111369", "label": "hyperalphalipoproteinemia 1", "link_status": true, "children": [] }, { "id": "DOID:0111370", "label": "apolipoprotein C-III deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:0111585", "label": "carnitine-acylcarnitine translocase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111865", "label": "MEND syndrome", "link_status": true, "children": [] }, { "id": "DOID:0111898", "label": "CK syndrome", "link_status": true, "children": [] }, { "id": "DOID:10582", "label": "Refsum disease", "link_status": true, "children": [] }, { "id": "DOID:1168", "label": "familial hyperlipidemia", "link_status": true, "children": [ { "id": "DOID:0111417", "label": "familial chylomicronemia syndrome", "link_status": false, "children": [ { "id": "DOID:0111418", "label": "familial apolipoprotein C-II deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111420", "label": "familial GPIHBP1 deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111422", "label": "familial lipase maturation factor 1 deficiency", "link_status": true, "children": [] }, { "id": "DOID:14118", "label": "familial lipoprotein lipase deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:1171", "label": "hyperlipoproteinemia type V", "link_status": true, "children": [] }, { "id": "DOID:1172", "label": "hyperlipoproteinemia type IV", "link_status": true, "children": [] }, { "id": "DOID:13809", "label": "familial combined hyperlipidemia", "link_status": true, "children": [] }, { "id": "DOID:13810", "label": "familial hypercholesterolemia", "link_status": true, "children": [ { "id": "DOID:0090105", "label": "autosomal recessive hypercholesterolemia", "link_status": true, "children": [] } ] }, { "id": "DOID:3145", "label": "hyperlipoproteinemia type III", "link_status": true, "children": [] } ] }, { "id": "DOID:1387", "label": "hypolipoproteinemia", "link_status": true, "children": [ { "id": "DOID:0080957", "label": "primary hypoalphalipoproteinemia 1", "link_status": true, "children": [] }, { "id": "DOID:0080958", "label": "primary hypoalphalipoproteinemia 2", "link_status": true, "children": [] }, { "id": "DOID:1386", "label": "abetalipoproteinemia", "link_status": true, "children": [] }, { "id": "DOID:1388", "label": "Tangier disease", "link_status": true, "children": [] }, { "id": "DOID:1390", "label": "hypobetalipoproteinemia", "link_status": true, "children": [ { "id": "DOID:0111061", "label": "familial hypobetalipoproteinemia 2", "link_status": true, "children": [] }, { "id": "DOID:0111062", "label": "familial hypobetalipoproteinemia 1", "link_status": true, "children": [] } ] }, { "id": "DOID:1391", "label": "Norum disease", "link_status": true, "children": [] } ] }, { "id": "DOID:14498", "label": "lipoid proteinosis", "link_status": true, "children": [] }, { "id": "DOID:14692", "label": "Smith-Lemli-Opitz syndrome", "link_status": true, "children": [] }, { "id": "DOID:1701", "label": "steroid inherited metabolic disorder", "link_status": true, "children": [ { "id": "DOID:0050674", "label": "congenital bile acid synthesis defect", "link_status": false, "children": [ { "id": "DOID:0111066", "label": "congenital bile acid synthesis defect 5", "link_status": true, "children": [] }, { "id": "DOID:0111067", "label": "congenital bile acid synthesis defect 6", "link_status": true, "children": [] }, { "id": "DOID:0111068", "label": "congenital bile acid synthesis defect 4", "link_status": true, "children": [] }, { "id": "DOID:0111069", "label": "congenital bile acid synthesis defect 2", "link_status": true, "children": [] }, { "id": "DOID:0111070", "label": "congenital bile acid synthesis defect 3", "link_status": true, "children": [] }, { "id": "DOID:0111071", "label": "congenital bile acid synthesis defect 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0050811", "label": "congenital adrenal hyperplasia", "link_status": true, "children": [] }, { "id": "DOID:0061180", "label": "familial hypercholanemia 3", "link_status": true, "children": [] }, { "id": "DOID:0061181", "label": "familial hypercholanemia 1", "link_status": true, "children": [] }, { "id": "DOID:0061182", "label": "familial hypercholanemia 2", "link_status": true, "children": [] }, { "id": "DOID:0080925", "label": "cytochrome P450 oxidoreductase deficiency", "link_status": true, "children": [] }, { "id": "DOID:4367", "label": "apparent mineralocorticoid excess syndrome", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:3211", "label": "lysosomal storage disease", "link_status": true, "children": [ { "id": "DOID:0050437", "label": "Danon disease", "link_status": true, "children": [] }, { "id": "DOID:0050461", "label": "aspartylglucosaminuria", "link_status": true, "children": [] }, { "id": "DOID:0080540", "label": "galactosialidosis", "link_status": true, "children": [] }, { "id": "DOID:0112317", "label": "Schindler disease", "link_status": false, "children": [ { "id": "DOID:0112318", "label": "Schindler disease type 1", "link_status": true, "children": [] }, { "id": "DOID:0112319", "label": "Kanzaki disease", "link_status": true, "children": [] } ] }, { "id": "DOID:1064", "label": "cystinosis", "link_status": true, "children": [] }, { "id": "DOID:12798", "label": "mucopolysaccharidosis", "link_status": true, "children": [ { "id": "DOID:0050809", "label": "mucopolysaccharidosis IX", "link_status": true, "children": [] }, { "id": "DOID:0061128", "label": "mucopolysaccharidosis X", "link_status": true, "children": [] }, { "id": "DOID:12799", "label": "mucopolysaccharidosis II", "link_status": true, "children": [] }, { "id": "DOID:12800", "label": "mucopolysaccharidosis VI", "link_status": true, "children": [] }, { "id": "DOID:12801", "label": "mucopolysaccharidosis III", "link_status": true, "children": [ { "id": "DOID:0111393", "label": "mucopolysaccharidosis type IIIC", "link_status": true, "children": [] }, { "id": "DOID:0111394", "label": "mucopolysaccharidosis type IIIB", "link_status": true, "children": [] }, { "id": "DOID:0111395", "label": "mucopolysaccharidosis type IIIA", "link_status": true, "children": [] }, { "id": "DOID:0111402", "label": "mucopolysaccharidosis type IIID", "link_status": true, "children": [] } ] }, { "id": "DOID:12802", "label": "mucopolysaccharidosis I", "link_status": true, "children": [ { "id": "DOID:0060222", "label": "Scheie syndrome", "link_status": true, "children": [] }, { "id": "DOID:0111389", "label": "mucopolysaccharidosis Ih/s", "link_status": true, "children": [] }, { "id": "DOID:0111390", "label": "mucopolysaccharidosis Ih", "link_status": true, "children": [] } ] }, { "id": "DOID:12803", "label": "mucopolysaccharidosis type VII", "link_status": true, "children": [] }, { "id": "DOID:12804", "label": "mucopolysaccharidosis IV", "link_status": true, "children": [ { "id": "DOID:0111391", "label": "mucopolysaccharidosis IVA", "link_status": true, "children": [] }, { "id": "DOID:0111392", "label": "mucopolysaccharidosis type IVB", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:14500", "label": "fucosidosis", "link_status": true, "children": [] }, { "id": "DOID:3413", "label": "alpha-mannosidosis", "link_status": true, "children": [] }, { "id": "DOID:3633", "label": "beta-mannosidosis", "link_status": true, "children": [] }, { "id": "DOID:3659", "label": "sialuria", "link_status": true, "children": [] }, { "id": "DOID:9455", "label": "lipid storage disease", "link_status": true, "children": [ { "id": "DOID:0050464", "label": "Farber lipogranulomatosis", "link_status": true, "children": [] }, { "id": "DOID:0050729", "label": "Chanarin-Dorfman syndrome", "link_status": true, "children": [] }, { "id": "DOID:0080217", "label": "lysosomal acid lipase deficiency", "link_status": true, "children": [ { "id": "DOID:14497", "label": "Wolman disease", "link_status": true, "children": [] }, { "id": "DOID:14502", "label": "cholesterol ester storage disease", "link_status": true, "children": [] } ] }, { "id": "DOID:0080488", "label": "mucolipidosis", "link_status": true, "children": [ { "id": "DOID:0080070", "label": "mucolipidosis II alpha/beta", "link_status": true, "children": [] }, { "id": "DOID:0080071", "label": "mucolipidosis III alpha/beta", "link_status": true, "children": [] }, { "id": "DOID:0080490", "label": "mucolipidosis type IV", "link_status": true, "children": [] }, { "id": "DOID:0080678", "label": "mucolipidosis III gamma", "link_status": true, "children": [] }, { "id": "DOID:3343", "label": "glycoproteinosis", "link_status": true, "children": [] } ] }, { "id": "DOID:0081273", "label": "Siddiqi syndrome", "link_status": true, "children": [] }, { "id": "DOID:14503", "label": "neuronal ceroid lipofuscinosis", "link_status": true, "children": [ { "id": "DOID:0061189", "label": "neuronal ceroid lipofuscinosis 15", "link_status": true, "children": [] }, { "id": "DOID:0110720", "label": "neuronal ceroid lipofuscinosis 4", "link_status": true, "children": [] }, { "id": "DOID:0110721", "label": "neuronal ceroid lipofuscinosis 1", "link_status": true, "children": [] }, { "id": "DOID:0110722", "label": "neuronal ceroid lipofuscinosis 7", "link_status": true, "children": [] }, { "id": "DOID:0110723", "label": "neuronal ceroid lipofuscinosis 8", "link_status": true, "children": [] }, { "id": "DOID:0110724", "label": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", "link_status": true, "children": [] }, { "id": "DOID:0110725", "label": "neuronal ceroid lipofuscinosis 10", "link_status": true, "children": [] }, { "id": "DOID:0110726", "label": "neuronal ceroid lipofuscinosis 2", "link_status": true, "children": [] }, { "id": "DOID:0110727", "label": "neuronal ceroid lipofuscinosis 13", "link_status": true, "children": [] }, { "id": "DOID:0110728", "label": "neuronal ceroid lipofuscinosis 5", "link_status": true, "children": [] }, { "id": "DOID:0110729", "label": "neuronal ceroid lipofuscinosis 6A", "link_status": true, "children": [] }, { "id": "DOID:0110730", "label": "neuronal ceroid lipofuscinosis 6B", "link_status": true, "children": [] }, { "id": "DOID:0110731", "label": "neuronal ceroid lipofuscinosis 3", "link_status": true, "children": [] }, { "id": "DOID:0110732", "label": "neuronal ceroid lipofuscinosis 11", "link_status": true, "children": [] } ] }, { "id": "DOID:1927", "label": "sphingolipidosis", "link_status": true, "children": [ { "id": "DOID:0050441", "label": "mucosulfatidosis", "link_status": true, "children": [] }, { "id": "DOID:0111330", "label": "combined saposin deficiency", "link_status": true, "children": [] }, { "id": "DOID:10581", "label": "metachromatic leukodystrophy", "link_status": true, "children": [] }, { "id": "DOID:10587", "label": "Krabbe disease", "link_status": true, "children": [] }, { "id": "DOID:14499", "label": "Fabry disease", "link_status": true, "children": [] }, { "id": "DOID:14504", "label": "Niemann-Pick disease", "link_status": true, "children": [ { "id": "DOID:0070111", "label": "Niemann-Pick disease type A", "link_status": true, "children": [] }, { "id": "DOID:0070112", "label": "Niemann-Pick disease type B", "link_status": true, "children": [] }, { "id": "DOID:0070113", "label": "Niemann-Pick disease type C1", "link_status": true, "children": [] }, { "id": "DOID:0070114", "label": "Niemann-Pick disease type C2", "link_status": true, "children": [] } ] }, { "id": "DOID:1926", "label": "Gaucher's disease", "link_status": true, "children": [ { "id": "DOID:0110957", "label": "Gaucher's disease type I", "link_status": true, "children": [] }, { "id": "DOID:0110958", "label": "Gaucher's disease type II", "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:0110960", "label": "Gaucher's disease perinatal lethal", "link_status": true, "children": [] }, { "id": "DOID:0110961", "label": "atypical Gaucher's disease due to saposin c deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:2368", "label": "gangliosidosis", "link_status": false, "children": [ { "id": "DOID:3321", "label": "GM2 gangliosidosis", "link_status": true, "children": [ { "id": "DOID:3320", "label": "Tay-Sachs disease", "link_status": true, "children": [] }, { "id": "DOID:3323", "label": "Sandhoff disease", "link_status": true, "children": [] }, { "id": "DOID:4795", "label": "GM2 gangliosidosis, AB variant", "link_status": true, "children": [] } ] }, { "id": "DOID:3322", "label": "GM1 gangliosidosis", "link_status": true, "children": [ { "id": "DOID:0080489", "label": "GM1 gangliosidosis type 3", "link_status": true, "children": [] }, { "id": "DOID:0080501", "label": "GM1 gangliosidosis type 2", "link_status": true, "children": [] }, { "id": "DOID:0080502", "label": "GM1 gangliosidosis type 1", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:4423", "label": "sea-blue histiocytosis", "link_status": true, "children": [] } ] }, { "id": "DOID:3345", "label": "xanthomatosis", "link_status": true, "children": [ { "id": "DOID:4810", "label": "cerebrotendinous xanthomatosis", "link_status": true, "children": [] } ] }, { "id": "DOID:9452", "label": "steatotic liver disease", "link_status": true, "children": [ { "id": "DOID:0070508", "label": "metabolic dysfunction and alcohol associated liver disease", "link_status": true, "children": [] }, { "id": "DOID:0080208", "label": "metabolic dysfunction-associated steatotic liver disease", "link_status": true, "children": [ { "id": "DOID:0080547", "label": "metabolic dysfunction-associated steatohepatitis", "link_status": true, "children": [] } ] } ] } ] } ] }, { "id": "DOID:653", "label": "purine-pyrimidine metabolic disorder", "link_status": true, "children": [ { "id": "DOID:0060236", "label": "xanthinuria", "link_status": true, "children": [ { "id": "DOID:0070452", "label": "xanthinuria type I", "link_status": true, "children": [] }, { "id": "DOID:0070453", "label": "xanthinuria type II", "link_status": true, "children": [] } ] }, { "id": "DOID:0060350", "label": "adenine phosphoribosyltransferase deficiency", "link_status": true, "children": [] }, { "id": "DOID:14218", "label": "dihydropyrimidine dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:1919", "label": "Lesch-Nyhan syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:700", "label": "mitochondrial metabolism disease", "link_status": true, "children": [ { "id": "DOID:0050730", "label": "coenzyme Q10 deficiency disease", "link_status": true, "children": [ { "id": "DOID:0070238", "label": "primary coenzyme Q10 deficiency 1", "link_status": true, "children": [] }, { "id": "DOID:0070239", "label": "primary coenzyme Q10 deficiency 2", "link_status": true, "children": [] }, { "id": "DOID:0070240", "label": "primary coenzyme Q10 deficiency 3", "link_status": true, "children": [] }, { "id": "DOID:0070241", "label": "primary coenzyme Q10 deficiency 4", "link_status": true, "children": [] }, { "id": "DOID:0070242", "label": "primary coenzyme Q10 deficiency 5", "link_status": true, "children": [] }, { "id": "DOID:0070243", "label": "primary coenzyme Q10 deficiency 6", "link_status": true, "children": [] }, { "id": "DOID:0070244", "label": "primary coenzyme Q10 deficiency 7", "link_status": true, "children": [] }, { "id": "DOID:0070245", "label": "primary coenzyme Q10 deficiency 8", "link_status": true, "children": [] }, { "id": "DOID:0112138", "label": "primary coenzyme Q10 deficiency 9", "link_status": true, "children": [] } ] }, { "id": "DOID:0050757", "label": "deafness-dystonia-optic neuronopathy syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060286", "label": "combined oxidative phosphorylation deficiency", "link_status": true, "children": [ { "id": "DOID:0070424", "label": "combined oxidative phosphorylation deficiency 44", "link_status": true, "children": [] }, { "id": "DOID:0070425", "label": "combined oxidative phosphorylation deficiency 52", "link_status": true, "children": [] }, { "id": "DOID:0070426", "label": "combined oxidative phosphorylation deficiency 53", "link_status": true, "children": [] }, { "id": "DOID:0070427", "label": "combined oxidative phosphorylation deficiency 54", "link_status": true, "children": [] }, { "id": "DOID:0070428", "label": "combined oxidative phosphorylation deficiency 55", "link_status": true, "children": [] }, { "id": "DOID:0070429", "label": "combined oxidative phosphorylation deficiency 56", "link_status": true, "children": [] }, { "id": "DOID:0070430", "label": "combined oxidative phosphorylation deficiency 57", "link_status": true, "children": [] }, { "id": "DOID:0111464", "label": "combined oxidative phosphorylation deficiency 35", "link_status": true, "children": [] }, { "id": "DOID:0111465", "label": "combined oxidative phosphorylation deficiency 21", "link_status": true, "children": [] }, { "id": "DOID:0111466", "label": "combined oxidative phosphorylation deficiency 38", "link_status": true, "children": [] }, { "id": "DOID:0111467", "label": "combined oxidative phosphorylation deficiency 13", "link_status": true, "children": [] }, { "id": "DOID:0111468", "label": "combined oxidative phosphorylation deficiency 25", "link_status": true, "children": [] }, { "id": "DOID:0111469", "label": "combined oxidative phosphorylation deficiency 16", "link_status": true, "children": [] }, { "id": "DOID:0111470", "label": "combined oxidative phosphorylation deficiency 28", "link_status": true, "children": [] }, { "id": "DOID:0111471", "label": "combined oxidative phosphorylation deficiency 30", "link_status": true, "children": [] }, { "id": "DOID:0111472", "label": "combined oxidative phosphorylation deficiency 9", "link_status": true, "children": [] }, { "id": "DOID:0111473", "label": "combined oxidative phosphorylation deficiency 5", "link_status": true, "children": [] }, { "id": "DOID:0111474", "label": "combined oxidative phosphorylation deficiency 1", "link_status": true, "children": [] }, { "id": "DOID:0111475", "label": "combined oxidative phosphorylation deficiency 39", "link_status": true, "children": [] }, { "id": "DOID:0111476", "label": "combined oxidative phosphorylation deficiency 19", "link_status": true, "children": [] }, { "id": "DOID:0111477", "label": "combined oxidative phosphorylation deficiency 14", "link_status": true, "children": [] }, { "id": "DOID:0111478", "label": "combined oxidative phosphorylation deficiency 20", "link_status": true, "children": [] }, { "id": "DOID:0111479", "label": "combined oxidative phosphorylation deficiency 8", "link_status": true, "children": [] }, { "id": "DOID:0111480", "label": "combined oxidative phosphorylation deficiency 10", "link_status": true, "children": [] }, { "id": "DOID:0111481", "label": "combined oxidative phosphorylation deficiency 11", "link_status": true, "children": [] }, { "id": "DOID:0111482", "label": "combined oxidative phosphorylation deficiency 36", "link_status": true, "children": [] }, { "id": "DOID:0111483", "label": "combined oxidative phosphorylation deficiency 2", "link_status": true, "children": [] }, { "id": "DOID:0111484", "label": "combined oxidative phosphorylation deficiency 18", "link_status": true, "children": [] }, { "id": "DOID:0111485", "label": "combined oxidative phosphorylation deficiency 24", "link_status": true, "children": [] }, { "id": "DOID:0111486", "label": "combined oxidative phosphorylation deficiency 3", "link_status": true, "children": [] }, { "id": "DOID:0111487", "label": "combined oxidative phosphorylation deficiency 7", "link_status": true, "children": [] }, { "id": "DOID:0111488", "label": "combined oxidative phosphorylation deficiency 31", "link_status": true, "children": [] }, { "id": "DOID:0111489", "label": "combined oxidative phosphorylation deficiency 27", "link_status": true, "children": [] }, { "id": "DOID:0111490", "label": "combined oxidative phosphorylation deficiency 26", "link_status": true, "children": [] }, { "id": "DOID:0111491", "label": "combined oxidative phosphorylation deficiency 15", "link_status": true, "children": [] }, { "id": "DOID:0111492", "label": "combined oxidative phosphorylation deficiency 32", "link_status": true, "children": [] }, { "id": "DOID:0111493", "label": "combined oxidative phosphorylation deficiency 12", "link_status": true, "children": [] }, { "id": "DOID:0111494", "label": "combined oxidative phosphorylation deficiency 4", "link_status": true, "children": [] }, { "id": "DOID:0111495", "label": "combined oxidative phosphorylation deficiency 33", "link_status": true, "children": [] }, { "id": "DOID:0111496", "label": "combined oxidative phosphorylation deficiency 17", "link_status": true, "children": [] }, { "id": "DOID:0111497", "label": "combined oxidative phosphorylation deficiency 34", "link_status": true, "children": [] }, { "id": "DOID:0111498", "label": "combined oxidative phosphorylation deficiency 22", "link_status": true, "children": [] }, { "id": "DOID:0111499", "label": "combined oxidative phosphorylation deficiency 37", "link_status": true, "children": [] }, { "id": "DOID:0111500", "label": "combined oxidative phosphorylation deficiency 23", "link_status": true, "children": [] }, { "id": "DOID:0111501", "label": "combined oxidative phosphorylation deficiency 29", "link_status": true, "children": [] }, { "id": "DOID:0111502", "label": "combined oxidative phosphorylation deficiency 6", "link_status": true, "children": [] }, { "id": "DOID:0112110", "label": "combined oxidative phosphorylation deficiency 49", "link_status": true, "children": [] }, { "id": "DOID:0112111", "label": "combined oxidative phosphorylation deficiency 50", "link_status": true, "children": [] }, { "id": "DOID:0112112", "label": "combined oxidative phosphorylation deficiency 48", "link_status": true, "children": [] }, { "id": "DOID:0112113", "label": "combined oxidative phosphorylation deficiency 45", "link_status": true, "children": [] }, { "id": "DOID:0112114", "label": "combined oxidative phosphorylation deficiency 47", "link_status": true, "children": [] }, { "id": "DOID:0112115", "label": "combined oxidative phosphorylation deficiency 46", "link_status": true, "children": [] }, { "id": "DOID:0112116", "label": "combined oxidative phosphorylation deficiency 43", "link_status": true, "children": [] }, { "id": "DOID:0112117", "label": "combined oxidative phosphorylation deficiency 40", "link_status": true, "children": [] }, { "id": "DOID:0112118", "label": "combined oxidative phosphorylation deficiency 42", "link_status": true, "children": [] }, { "id": "DOID:0112119", "label": "combined oxidative phosphorylation deficiency 41", "link_status": true, "children": [] }, { "id": "DOID:0112137", "label": "combined oxidative phosphorylation deficiency 51", "link_status": true, "children": [] } ] }, { "id": "DOID:0060536", "label": "mitochondrial complex I deficiency", "link_status": true, "children": [ { "id": "DOID:0112065", "label": "nuclear type mitochondrial complex I deficiency", "link_status": true, "children": [ { "id": "DOID:0112066", "label": "nuclear type mitochondrial complex I deficiency 6", "link_status": true, "children": [] }, { "id": "DOID:0112067", "label": "nuclear type mitochondrial complex I deficiency 25", "link_status": true, "children": [] }, { "id": "DOID:0112068", "label": "nuclear type mitochondrial complex I deficiency 5", "link_status": true, "children": [] }, { "id": "DOID:0112069", "label": "nuclear type mitochondrial complex I deficiency 22", "link_status": true, "children": [] }, { "id": "DOID:0112070", "label": "nuclear type mitochondrial complex I deficiency 18", "link_status": true, "children": [] }, { "id": "DOID:0112071", "label": "nuclear type mitochondrial complex I deficiency 31", "link_status": true, "children": [] }, { "id": "DOID:0112072", "label": "nuclear type mitochondrial complex I deficiency 20", "link_status": true, "children": [] }, { "id": "DOID:0112073", "label": "nuclear type mitochondrial complex I deficiency 9", "link_status": true, "children": [] }, { "id": "DOID:0112074", "label": "nuclear type mitochondrial complex I deficiency 1", "link_status": true, "children": [] }, { "id": "DOID:0112075", "label": "nuclear type mitochondrial complex I deficiency 10", "link_status": true, "children": [] }, { "id": "DOID:0112076", "label": "nuclear type mitochondrial complex I deficiency 13", "link_status": true, "children": [] }, { "id": "DOID:0112077", "label": "nuclear type mitochondrial complex I deficiency 15", "link_status": true, "children": [] }, { "id": "DOID:0112078", "label": "nuclear type mitochondrial complex I deficiency 17", "link_status": true, "children": [] }, { "id": "DOID:0112079", "label": "nuclear type mitochondrial complex I deficiency 24", "link_status": true, "children": [] }, { "id": "DOID:0112080", "label": "nuclear type mitochondrial complex I deficiency 32", "link_status": true, "children": [] }, { "id": "DOID:0112081", "label": "nuclear type mitochondrial complex I deficiency 8", "link_status": true, "children": [] }, { "id": "DOID:0112082", "label": "nuclear type mitochondrial complex I deficiency 4", "link_status": true, "children": [] }, { "id": "DOID:0112083", "label": "nuclear type mitochondrial complex I deficiency 2", "link_status": true, "children": [] }, { "id": "DOID:0112084", "label": "nuclear type mitochondrial complex I deficiency 29", "link_status": true, "children": [] }, { "id": "DOID:0112085", "label": "nuclear type mitochondrial complex I deficiency 19", "link_status": true, "children": [] }, { "id": "DOID:0112086", "label": "nuclear type mitochondrial complex I deficiency 26", "link_status": true, "children": [] }, { "id": "DOID:0112087", "label": "nuclear type mitochondrial complex I deficiency 23", "link_status": true, "children": [] }, { "id": "DOID:0112088", "label": "nuclear type mitochondrial complex I deficiency 21", "link_status": true, "children": [] }, { "id": "DOID:0112089", "label": "nuclear type mitochondrial complex I deficiency 11", "link_status": true, "children": [] }, { "id": "DOID:0112090", "label": "nuclear type mitochondrial complex I deficiency 27", "link_status": true, "children": [] }, { "id": "DOID:0112091", "label": "nuclear type mitochondrial complex I deficiency 34", "link_status": true, "children": [] }, { "id": "DOID:0112092", "label": "nuclear type mitochondrial complex I deficiency 7", "link_status": true, "children": [] }, { "id": "DOID:0112093", "label": "nuclear type mitochondrial complex I deficiency 3", "link_status": true, "children": [] }, { "id": "DOID:0112094", "label": "nuclear type mitochondrial complex I deficiency 14", "link_status": true, "children": [] }, { "id": "DOID:0112095", "label": "nuclear type mitochondrial complex I deficiency 28", "link_status": true, "children": [] }, { "id": "DOID:0112096", "label": "nuclear type mitochondrial complex I deficiency 16", "link_status": true, "children": [] }, { "id": "DOID:0112097", "label": "nuclear type mitochondrial complex I deficiency 33", "link_status": true, "children": [] }, { "id": "DOID:0112098", "label": "nuclear type mitochondrial complex I deficiency 30", "link_status": true, "children": [] }, { "id": "DOID:0112099", "label": "nuclear type mitochondrial complex I deficiency 12", "link_status": true, "children": [] } ] }, { "id": "DOID:0112100", "label": "mitochondrial type mitochondrial complex I deficiency", "link_status": false, "children": [ { "id": "DOID:0112101", "label": "mitochondrial type mitochondrial complex I deficiency 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0112139", "label": "nuclear type mitochondrial complex I deficiency 35", "link_status": true, "children": [] } ] }, { "id": "DOID:0060537", "label": "mitochondrial complex II deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060640", "label": "ethylmalonic encephalopathy", "link_status": true, "children": [] }, { "id": "DOID:0070329", "label": "mitochondrial DNA depletion syndrome", "link_status": true, "children": [ { "id": "DOID:0051029", "label": "mitochondrial DNA depletion syndrome-21", "link_status": true, "children": [] }, { "id": "DOID:0070446", "label": "mitochondrial DNA depletion syndrome 16", "link_status": true, "children": [] }, { "id": "DOID:0070447", "label": "mitochondrial DNA depletion syndrome 16B", "link_status": true, "children": [] }, { "id": "DOID:0070448", "label": "mitochondrial DNA depletion syndrome 17", "link_status": true, "children": [] }, { "id": "DOID:0070449", "label": "mitochondrial DNA depletion syndrome 18", "link_status": true, "children": [] }, { "id": "DOID:0070450", "label": "mitochondrial DNA depletion syndrome 19", "link_status": true, "children": [] }, { "id": "DOID:0070451", "label": "mitochondrial DNA depletion syndrome 20", "link_status": true, "children": [] }, { "id": "DOID:0070750", "label": "mitochondrial myopathy and ataxia", "link_status": true, "children": [] }, { "id": "DOID:0080119", "label": "mitochondrial DNA depletion syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0080120", "label": "mitochondrial DNA depletion syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0080121", "label": "mitochondrial DNA depletion syndrome 3", "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: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: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: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:0080130", "label": "mitochondrial DNA depletion syndrome 12a", "link_status": true, "children": [] }, { "id": "DOID:0080131", "label": "mitochondrial DNA depletion syndrome 13", "link_status": true, "children": [] }, { "id": "DOID:0080132", "label": "Sengers syndrome", "link_status": true, "children": [] }, { "id": "DOID:0080335", "label": "mitochondrial DNA depletion syndrome 12b", "link_status": true, "children": [] }, { "id": "DOID:0080336", "label": "mitochondrial DNA depletion syndrome 14", "link_status": true, "children": [] }, { "id": "DOID:0080337", "label": "mitochondrial DNA depletion syndrome 15", "link_status": true, "children": [] } ] }, { "id": "DOID:0070330", "label": "multiple mitochondrial dysfunctions syndrome", "link_status": true, "children": [ { "id": "DOID:0070332", "label": "multiple mitochondrial dysfunctions syndrome 6", "link_status": true, "children": [] }, { "id": "DOID:0070733", "label": "multiple mitochondrial dysfunctions syndrome 7", "link_status": true, "children": [] }, { "id": "DOID:0070734", "label": "episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy", "link_status": true, "children": [] }, { "id": "DOID:0070735", "label": "auditory neuropathy and optic atrophy", "link_status": true, "children": [] }, { "id": "DOID:0070736", "label": "multiple mitochondrial dysfunctions syndrome 9B", "link_status": true, "children": [] }, { "id": "DOID:0070737", "label": "multiple mitochondrial dysfunctions syndrome 10", "link_status": true, "children": [] }, { "id": "DOID:0080133", "label": "multiple mitochondrial dysfunctions syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0080134", "label": "multiple mitochondrial dysfunctions syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0080135", "label": "multiple mitochondrial dysfunctions syndrome 3", "link_status": true, "children": [] }, { "id": "DOID:0080136", "label": "multiple mitochondrial dysfunctions syndrome 4", "link_status": true, "children": [] }, { "id": "DOID:0080274", "label": "multiple mitochondrial dysfunctions syndrome 5", "link_status": true, "children": [] } ] }, { "id": "DOID:0070540", "label": "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070543", "label": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0070752", "label": "neonatal severe encephalopathy with lactic acidosis and brain abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0080363", "label": "mitochondrial pyruvate carrier deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111139", "label": "mitochondrial complex III deficiency", "link_status": true, "children": [ { "id": "DOID:0060351", "label": "mitochondrial complex III deficiency nuclear type 2", "link_status": true, "children": [] }, { "id": "DOID:0080111", "label": "mitochondrial complex III deficiency nuclear type 1", "link_status": true, "children": [] }, { "id": "DOID:0080112", "label": "mitochondrial complex III deficiency nuclear type 3", "link_status": true, "children": [] }, { "id": "DOID:0080113", "label": "mitochondrial complex III deficiency nuclear type 4", "link_status": true, "children": [] }, { "id": "DOID:0080114", "label": "mitochondrial complex III deficiency nuclear type 5", "link_status": true, "children": [] }, { "id": "DOID:0080115", "label": "mitochondrial complex III deficiency nuclear type 6", "link_status": true, "children": [] }, { "id": "DOID:0080116", "label": "mitochondrial complex III deficiency nuclear type 7", "link_status": true, "children": [] }, { "id": "DOID:0080117", "label": "mitochondrial complex III deficiency nuclear type 8", "link_status": true, "children": [] }, { "id": "DOID:0080118", "label": "mitochondrial complex III deficiency nuclear type 9", "link_status": true, "children": [] } ] }, { "id": "DOID:0111143", "label": "mitochondrial complex V (ATP synthase) deficiency", "link_status": true, "children": [ { "id": "DOID:0050768", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 1", "link_status": true, "children": [] }, { "id": "DOID:0060331", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2", "link_status": true, "children": [] }, { "id": "DOID:0060332", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3", "link_status": true, "children": [] }, { "id": "DOID:0060333", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4", "link_status": false, "children": [ { "id": "DOID:0070461", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4A", "link_status": true, "children": [] }, { "id": "DOID:0070462", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4B", "link_status": true, "children": [] } ] }, { "id": "DOID:0070463", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 5", "link_status": true, "children": [] }, { "id": "DOID:0070464", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 7", "link_status": true, "children": [] }, { "id": "DOID:0111748", "label": "mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1", "link_status": true, "children": [] }, { "id": "DOID:0111749", "label": "mitochondrial complex V (ATP synthase) deficiency nuclear type 6", "link_status": true, "children": [] } ] }, { "id": "DOID:0111273", "label": "NARP syndrome", "link_status": true, "children": [] }, { "id": "DOID:0111276", "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "link_status": true, "children": [] }, { "id": "DOID:0111455", "label": "GRACILE syndrome", "link_status": true, "children": [] }, { "id": "DOID:0111750", "label": "adult-onset ataxia and polyneuropathy", "link_status": true, "children": [] }, { "id": "DOID:3762", "label": "cytochrome-c oxidase deficiency disease", "link_status": true, "children": [ { "id": "DOID:0050713", "label": "COX deficiency, infantile mitochondrial myopathy", "link_status": true, "children": [ { "id": "DOID:0080357", "label": "mitochondrial complex IV deficiency nuclear type 2", "link_status": true, "children": [] }, { "id": "DOID:0080358", "label": "mitochondrial complex IV deficiency nuclear type 6", "link_status": true, "children": [] }, { "id": "DOID:0080359", "label": "mitochondrial complex IV deficiency nuclear type 9", "link_status": true, "children": [] }, { "id": "DOID:0080360", "label": "mitochondrial complex IV deficiency nuclear type 13", "link_status": true, "children": [] } ] }, { "id": "DOID:0070485", "label": "mitochondrial complex IV deficiency nuclear type 23", "link_status": true, "children": [] }, { "id": "DOID:0081377", "label": "COX deficiency, benign infantile mitochondrial myopathy", "link_status": false, "children": [ { "id": "DOID:0070491", "label": "mitochondrial complex IV deficiency nuclear type 1", "link_status": true, "children": [] }, { "id": "DOID:0070492", "label": "mitochondrial complex IV deficiency nuclear type 3", "link_status": true, "children": [] }, { "id": "DOID:0070493", "label": "mitochondrial complex IV deficiency nuclear type 4", "link_status": true, "children": [] }, { "id": "DOID:0070494", "label": "mitochondrial complex IV deficiency nuclear type 7", "link_status": true, "children": [] }, { "id": "DOID:0070495", "label": "mitochondrial complex IV deficiency nuclear type 8", "link_status": true, "children": [] }, { "id": "DOID:0070496", "label": "mitochondrial complex IV deficiency nuclear type 10", "link_status": true, "children": [] }, { "id": "DOID:0070497", "label": "mitochondrial complex IV deficiency nuclear type 11", "link_status": true, "children": [] }, { "id": "DOID:0070498", "label": "mitochondrial complex IV deficiency nuclear type 12", "link_status": true, "children": [] }, { "id": "DOID:0070499", "label": "mitochondrial complex IV deficiency nuclear type 14", "link_status": true, "children": [] }, { "id": "DOID:0070500", "label": "mitochondrial complex IV deficiency nuclear type 15", "link_status": true, "children": [] }, { "id": "DOID:0070501", "label": "mitochondrial complex IV deficiency nuclear type 16", "link_status": true, "children": [] }, { "id": "DOID:0070502", "label": "mitochondrial complex IV deficiency nuclear type 17", "link_status": true, "children": [] }, { "id": "DOID:0070503", "label": "mitochondrial complex IV deficiency nuclear type 18", "link_status": true, "children": [] }, { "id": "DOID:0070504", "label": "mitochondrial complex IV deficiency nuclear type 19", "link_status": true, "children": [] }, { "id": "DOID:0070505", "label": "mitochondrial complex IV deficiency nuclear type 20", "link_status": true, "children": [] }, { "id": "DOID:0070506", "label": "mitochondrial complex IV deficiency nuclear type 21", "link_status": true, "children": [] }, { "id": "DOID:0070507", "label": "mitochondrial complex IV deficiency nuclear type 22", "link_status": true, "children": [] } ] }, { "id": "DOID:0111180", "label": "French Canadian Leigh disease", "link_status": true, "children": [] }, { "id": "DOID:3652", "label": "Leigh disease", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:896", "label": "metal metabolism disorder", "link_status": true, "children": [ { "id": "DOID:0050605", "label": "acrodermatitis enteropathica", "link_status": true, "children": [] }, { "id": "DOID:0050649", "label": "atransferrinemia", "link_status": true, "children": [] }, { "id": "DOID:0060879", "label": "primary hypomagnesemia", "link_status": true, "children": [ { "id": "DOID:0060880", "label": "renal hypomagnesemia 3", "link_status": true, "children": [] }, { "id": "DOID:0060881", "label": "renal hypomagnesemia 5 with ocular involvement", "link_status": true, "children": [] }, { "id": "DOID:0060882", "label": "renal hypomagnesemia 4", "link_status": true, "children": [] }, { "id": "DOID:0060883", "label": "intestinal hypomagnesemia 1", "link_status": true, "children": [] }, { "id": "DOID:0060884", "label": "renal hypomagnesemia 6", "link_status": true, "children": [] }, { "id": "DOID:0060885", "label": "renal hypomagnesemia 2", "link_status": true, "children": [] }, { "id": "DOID:0060972", "label": "renal hypomagnesemia 7, with or without dilated cardiomyopathy", "link_status": true, "children": [] } ] }, { "id": "DOID:0080535", "label": "hypermanganesemia with dystonia", "link_status": true, "children": [ { "id": "DOID:0080536", "label": "hypermanganesemia with dystonia 1", "link_status": true, "children": [] }, { "id": "DOID:0080537", "label": "hypermanganesemia with dystonia 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0090109", "label": "autosomal dominant hypocalcemia", "link_status": true, "children": [ { "id": "DOID:0090107", "label": "autosomal dominant hypocalcemia 1", "link_status": true, "children": [] }, { "id": "DOID:0090108", "label": "autosomal dominant hypocalcemia 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0111165", "label": "molybdenum cofactor deficiency", "link_status": true, "children": [ { "id": "DOID:0111163", "label": "molybdenum cofactor deficiency type B", "link_status": true, "children": [] }, { "id": "DOID:0111164", "label": "molybdenum cofactor deficiency type A", "link_status": true, "children": [] }, { "id": "DOID:0111166", "label": "molybdenum cofactor deficiency type C", "link_status": true, "children": [] } ] }, { "id": "DOID:0111272", "label": "occipital horn syndrome", "link_status": true, "children": [] }, { "id": "DOID:1029", "label": "familial periodic paralysis", "link_status": true, "children": [ { "id": "DOID:14451", "label": "hyperkalemic periodic paralysis", "link_status": true, "children": [] }, { "id": "DOID:14452", "label": "hypokalemic periodic paralysis", "link_status": true, "children": [] } ] }, { "id": "DOID:1838", "label": "Menkes disease", "link_status": true, "children": [] }, { "id": "DOID:2352", "label": "hemochromatosis", "link_status": true, "children": [ { "id": "DOID:0111028", "label": "hemochromatosis type 4", "link_status": true, "children": [] }, { "id": "DOID:0111029", "label": "hemochromatosis type 1", "link_status": true, "children": [] }, { "id": "DOID:0111030", "label": "hemochromatosis type 3", "link_status": true, "children": [] }, { "id": "DOID:0111031", "label": "hemochromatosis type 5", "link_status": true, "children": [] }, { "id": "DOID:0111034", "label": "hemochromatosis type 2", "link_status": false, "children": [ { "id": "DOID:0111027", "label": "hemochromatosis type 2A", "link_status": true, "children": [] }, { "id": "DOID:0111032", "label": "hemochromatosis type 2B", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:4184", "label": "pseudohypoparathyroidism", "link_status": true, "children": [ { "id": "DOID:0051013", "label": "pseudohypoparathyroidism type 1C", "link_status": true, "children": [] }, { "id": "DOID:0080053", "label": "pseudohypoparathyroidism type 1A", "link_status": true, "children": [] }, { "id": "DOID:0080222", "label": "pseudohypoparathyroidism type 1B", "link_status": true, "children": [] }, { "id": "DOID:4183", "label": "pseudopseudohypoparathyroidism", "link_status": true, "children": [] } ] }, { "id": "DOID:893", "label": "Wilson disease", "link_status": true, "children": [] } ] }, { "id": "DOID:906", "label": "peroxisomal disease", "link_status": true, "children": [ { "id": "DOID:0050452", "label": "mevalonic aciduria", "link_status": true, "children": [] }, { "id": "DOID:0050797", "label": "peroxisomal acyl-CoA oxidase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060602", "label": "alpha-methylacyl-CoA racemase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070516", "label": "Mitchell syndrome", "link_status": true, "children": [] }, { "id": "DOID:0080377", "label": "peroxisomal biogenesis disorder", "link_status": true, "children": [ { "id": "DOID:0080622", "label": "peroxisome biogenesis disorder 2B", "link_status": true, "children": [] }, { "id": "DOID:0080623", "label": "Heimler syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0080624", "label": "Heimler syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0081240", "label": "peroxisome biogenesis disorder 1B", "link_status": true, "children": [] }, { "id": "DOID:0081241", "label": "peroxisome biogenesis disorder 3B", "link_status": true, "children": [] }, { "id": "DOID:0081274", "label": "peroxisome biogenesis disorder 14B", "link_status": true, "children": [] }, { "id": "DOID:0081433", "label": "Peroxisome biogenesis disorder 4B", "link_status": true, "children": [] }, { "id": "DOID:0081434", "label": "Peroxisome biogenesis disorder 5B", "link_status": true, "children": [] }, { "id": "DOID:0081435", "label": "Peroxisome biogenesis disorder 6B", "link_status": true, "children": [] }, { "id": "DOID:0081436", "label": "Peroxisome biogenesis disorder 7B", "link_status": true, "children": [] }, { "id": "DOID:0081437", "label": "Peroxisome biogenesis disorder 8B", "link_status": true, "children": [] }, { "id": "DOID:0081438", "label": "Peroxisome biogenesis disorder 9B", "link_status": true, "children": [] }, { "id": "DOID:0081439", "label": "Peroxisome biogenesis disorder 11B", "link_status": true, "children": [] }, { "id": "DOID:0081440", "label": "Peroxisome biogenesis disorder 10B", "link_status": true, "children": [] }, { "id": "DOID:905", "label": "Zellweger syndrome", "link_status": true, "children": [ { "id": "DOID:0080476", "label": "peroxisome biogenesis disorder 1A", "link_status": true, "children": [] }, { "id": "DOID:0080477", "label": "peroxisome biogenesis disorder 2A", "link_status": true, "children": [] }, { "id": "DOID:0080478", "label": "peroxisome biogenesis disorder 3A", "link_status": true, "children": [] }, { "id": "DOID:0080479", "label": "peroxisome biogenesis disorder 4A", "link_status": true, "children": [] }, { "id": "DOID:0080480", "label": "peroxisome biogenesis disorder 5A", "link_status": true, "children": [] }, { "id": "DOID:0080481", "label": "peroxisome biogenesis disorder 6A", "link_status": true, "children": [] }, { "id": "DOID:0080482", "label": "peroxisome biogenesis disorder 7A", "link_status": true, "children": [] }, { "id": "DOID:0080483", "label": "peroxisome biogenesis disorder 8A", "link_status": true, "children": [] }, { "id": "DOID:0080484", "label": "peroxisome biogenesis disorder 10A", "link_status": true, "children": [] }, { "id": "DOID:0080485", "label": "peroxisome biogenesis disorder 11A", "link_status": true, "children": [] }, { "id": "DOID:0080486", "label": "peroxisome biogenesis disorder 12A", "link_status": true, "children": [] }, { "id": "DOID:0080487", "label": "peroxisome biogenesis disorder 13A", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:0080946", "label": "retinal dystrophy with leukodystrophy", "link_status": true, "children": [] }, { "id": "DOID:0090031", "label": "D-bifunctional protein deficiency", "link_status": true, "children": [] }, { "id": "DOID:0112246", "label": "glutaric acidemia type 3", "link_status": true, "children": [] }, { "id": "DOID:2582", "label": "acatalasia", "link_status": true, "children": [] } ] }, { "id": "DOID:9246", "label": "cerebral amyloid angiopathy", "link_status": true, "children": [ { "id": "DOID:0070027", "label": "CST3-related cerebral amyloid angiopathy", "link_status": true, "children": [] }, { "id": "DOID:0070028", "label": "APP-related cerebral amyloid angiopathy", "link_status": true, "children": [] }, { "id": "DOID:0070029", "label": "ITM2B-related cerebral amyloid angiopathy 1", "link_status": true, "children": [] }, { "id": "DOID:0070030", "label": "ITM2B-related cerebral amyloid angiopathy 2", "link_status": true, "children": [] } ] }, { "id": "DOID:9252", "label": "amino acid metabolic disorder", "link_status": true, "children": [ { "id": "DOID:0050544", "label": "hypermethioninemia", "link_status": true, "children": [ { "id": "DOID:0111037", "label": "glycine N-methyltransferase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111038", "label": "hypermethioninemia due to adenosine kinase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111039", "label": "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase", "link_status": true, "children": [] } ] }, { "id": "DOID:0050573", "label": "2-hydroxyglutaric aciduria", "link_status": true, "children": [ { "id": "DOID:0050574", "label": "L-2-hydroxyglutaric aciduria", "link_status": true, "children": [] }, { "id": "DOID:0050575", "label": "D-2-hydroxyglutaric aciduria", "link_status": true, "children": [ { "id": "DOID:0111351", "label": "D-2-hydroxyglutaric aciduria 1", "link_status": true, "children": [] }, { "id": "DOID:0111352", "label": "D-2-hydroxyglutaric aciduria 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0111619", "label": "combined D-2- and L-2-hydroxyglutaric aciduria", "link_status": true, "children": [] } ] }, { "id": "DOID:0050710", "label": "3-methylcrotonyl-CoA carboxylase deficiency", "link_status": true, "children": [ { "id": "DOID:0080579", "label": "3-methylcrotonyl-CoA carboxylase 1 deficiency", "link_status": true, "children": [] }, { "id": "DOID:0080580", "label": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:0050720", "label": "ornithine translocase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050721", "label": "serine deficiency", "link_status": false, "children": [ { "id": "DOID:0050722", "label": "PHGDH deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050723", "label": "PSAT deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050724", "label": "PSPH deficiency", "link_status": true, "children": [] }, { "id": "DOID:0080075", "label": "Neu-Laxova syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0080076", "label": "Neu-Laxova syndrome 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0050762", "label": "adenylosuccinase lyase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050798", "label": "cerebral creatine deficiency syndrome", "link_status": true, "children": [ { "id": "DOID:0050712", "label": "AGAT deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050799", "label": "guanidinoacetate methyltransferase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0050800", "label": "cerebral creatine deficiency syndrome 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0060159", "label": "organic acidemia", "link_status": false, "children": [ { "id": "DOID:0060336", "label": "3-methylglutaconic aciduria", "link_status": true, "children": [ { "id": "DOID:0050476", "label": "Barth syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070000", "label": "3-methylglutaconic aciduria type 8", "link_status": true, "children": [] }, { "id": "DOID:0070002", "label": "3-methylglutaconic aciduria type 9", "link_status": true, "children": [] }, { "id": "DOID:0110000", "label": "3-methylglutaconic aciduria type 5", "link_status": true, "children": [] }, { "id": "DOID:0110001", "label": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome", "link_status": true, "children": [] }, { "id": "DOID:0110002", "label": "3-methylglutaconic aciduria type 1", "link_status": true, "children": [] }, { "id": "DOID:0110003", "label": "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia", "link_status": false, "children": [ { "id": "DOID:0081133", "label": "3-methylglutaconic aciduria type 7a", "link_status": true, "children": [] }, { "id": "DOID:0081134", "label": "3-methylglutaconic aciduria type 7b", "link_status": true, "children": [] } ] }, { "id": "DOID:0110004", "label": "3-methylglutaconic aciduria type 3", "link_status": true, "children": [] } ] }, { "id": "DOID:0111254", "label": "glutaric acidemia I", "link_status": true, "children": [] }, { "id": "DOID:0111263", "label": "combined malonic and methylmalonic acidemia", "link_status": true, "children": [] }, { "id": "DOID:14701", "label": "propionic acidemia", "link_status": true, "children": [] }, { "id": "DOID:14749", "label": "methylmalonic acidemia", "link_status": true, "children": [ { "id": "DOID:0050715", "label": "methylmalonic aciduria and homocystinuria type cblC", "link_status": true, "children": [] }, { "id": "DOID:0050716", "label": "methylmalonic aciduria and homocystinuria type cblD", "link_status": true, "children": [] }, { "id": "DOID:0050717", "label": "methylmalonic aciduria and homocystinuria type cblF", "link_status": true, "children": [] }, { "id": "DOID:0050733", "label": "methylmalonic aciduria and homocystinuria type cblG", "link_status": true, "children": [] }, { "id": "DOID:0060740", "label": "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060741", "label": "methylmalonic acidemia due to transcobalamin receptor defect", "link_status": true, "children": [] }, { "id": "DOID:0060742", "label": "methylmalonic acidemia cblA type", "link_status": true, "children": [] }, { "id": "DOID:0060743", "label": "methylmalonic acidemia cblB type", "link_status": true, "children": [] }, { "id": "DOID:0111814", "label": "methylmalonic acidemia and homocysteinemia cblX type", "link_status": true, "children": [] } ] }, { "id": "DOID:14753", "label": "isovaleric acidemia", "link_status": true, "children": [] }, { "id": "DOID:9269", "label": "maple syrup urine disease", "link_status": true, "children": [ { "id": "DOID:0061203", "label": "maple syrup urine disease type IA", "link_status": true, "children": [] }, { "id": "DOID:0061204", "label": "dihydrolipoamide dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0061205", "label": "mild variant of maple syrup urine disease", "link_status": true, "children": [] }, { "id": "DOID:0061206", "label": "maple syrup urine disease type IB", "link_status": true, "children": [] }, { "id": "DOID:0061207", "label": "maple syrup urine disease type II", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:0060176", "label": "gamma-amino butyric acid metabolism disorder", "link_status": false, "children": [ { "id": "DOID:0060174", "label": "GABA aminotransferase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060175", "label": "succinic semialdehyde dehydrogenase deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:0060439", "label": "lysinuric protein intolerance", "link_status": true, "children": [] }, { "id": "DOID:0060650", "label": "dicarboxylic aminoaciduria", "link_status": true, "children": [] }, { "id": "DOID:0060693", "label": "Brunner Syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060949", "label": "3-hydroxyisobutryl-CoA hydrolase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0060950", "label": "hypervalinemia and hyperleucine-isoleucinemia", "link_status": true, "children": [] }, { "id": "DOID:0070476", "label": "diphthamide deficiency syndrome", "link_status": true, "children": [ { "id": "DOID:0070477", "label": "diphthamide deficiency syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0070478", "label": "diphthamide deficiency syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0070479", "label": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties", "link_status": true, "children": [] } ] }, { "id": "DOID:0070540", "label": "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070541", "label": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070542", "label": "neurodevelopmental disorder with spastic paraplegia and microcephaly", "link_status": true, "children": [] }, { "id": "DOID:0070543", "label": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0070544", "label": "congenital glutamine deficiency", "link_status": true, "children": [] }, { "id": "DOID:0070545", "label": "developmental and epileptic encephalopathy 116", "link_status": true, "children": [] }, { "id": "DOID:0080541", "label": "hyperprolinemia", "link_status": false, "children": [ { "id": "DOID:0080542", "label": "hyperprolinemia type 1", "link_status": true, "children": [] }, { "id": "DOID:0080543", "label": "hyperprolinemia type 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0080699", "label": "glutathione synthetase deficiency", "link_status": true, "children": [ { "id": "DOID:0081034", "label": "glutatione synthetase deficiency with 5-oxoprolinuria", "link_status": true, "children": [] }, { "id": "DOID:0112252", "label": "congenital nonspherocytic hemolytic anemia 6", "link_status": true, "children": [] } ] }, { "id": "DOID:0081132", "label": "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia", "link_status": false, "children": [ { "id": "DOID:0081130", "label": "BH4-deficient hyperphenylalaninemia C", "link_status": true, "children": [] }, { "id": "DOID:0081131", "label": "BH4-deficient hyperphenylalaninemia D", "link_status": true, "children": [] }, { "id": "DOID:0090106", "label": "BH4-deficient hyperphenylalaninemia A", "link_status": true, "children": [] }, { "id": "DOID:0112225", "label": "BH4-deficient hyperphenylalaninemia B", "link_status": true, "children": [] } ] }, { "id": "DOID:0081168", "label": "HMG-CoA synthase 2 deficiency", "link_status": true, "children": [] }, { "id": "DOID:0081326", "label": "oxoglutarate dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0081446", "label": "dimethylglycine dehydrogenase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0090126", "label": "branched-chain keto acid dehydrogenase kinase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0090142", "label": "cystathioninuria", "link_status": true, "children": [] }, { "id": "DOID:0111257", "label": "gamma-glutamyl transpeptidase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111258", "label": "pentosuria", "link_status": true, "children": [] }, { "id": "DOID:0111261", "label": "fumarase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111362", "label": "hawkinsinuria", "link_status": true, "children": [] }, { "id": "DOID:0111453", "label": "2-aminoadipic 2-oxoadipic aciduria", "link_status": true, "children": [] }, { "id": "DOID:0111540", "label": "prolidase deficiency", "link_status": true, "children": [] }, { "id": "DOID:0111681", "label": "congenital nonspherocytic hemolytic anemia 7", "link_status": true, "children": [] }, { "id": "DOID:0111703", "label": "familial hypertryptophanemia", "link_status": true, "children": [] }, { "id": "DOID:0112255", "label": "homocystinuria-megaloblastic anemia cblE type", "link_status": true, "children": [] }, { "id": "DOID:0112256", "label": "homocystinuria-megaloblastic anemia cblG type", "link_status": true, "children": [] }, { "id": "DOID:0112257", "label": "hydroxykynureninuria", "link_status": true, "children": [] }, { "id": "DOID:0112262", "label": "leucine-sensitive hypoglycemia of infancy", "link_status": true, "children": [] }, { "id": "DOID:0112307", "label": "sarcosinemia", "link_status": true, "children": [] }, { "id": "DOID:1060", "label": "Hartnup disease", "link_status": true, "children": [] }, { "id": "DOID:14365", "label": "systemic primary carnitine deficiency disease", "link_status": true, "children": [] }, { "id": "DOID:14723", "label": "beta-ketothiolase deficiency", "link_status": true, "children": [] }, { "id": "DOID:14755", "label": "argininosuccinic aciduria", "link_status": true, "children": [] }, { "id": "DOID:857", "label": "multiple carboxylase deficiency", "link_status": false, "children": [ { "id": "DOID:856", "label": "biotinidase deficiency", "link_status": true, "children": [] }, { "id": "DOID:859", "label": "holocarboxylase synthetase deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:9263", "label": "homocystinuria", "link_status": true, "children": [] }, { "id": "DOID:9265", "label": "histidine metabolism disease", "link_status": false, "children": [ { "id": "DOID:0060168", "label": "histidinemia", "link_status": true, "children": [] }, { "id": "DOID:0112180", "label": "urocanase deficiency", "link_status": true, "children": [] } ] }, { "id": "DOID:9266", "label": "cystinuria", "link_status": true, "children": [] }, { "id": "DOID:9267", "label": "urea cycle disorder", "link_status": false, "children": [ { "id": "DOID:0112258", "label": "N-acetylglutamate synthase deficiency", "link_status": true, "children": [] }, { "id": "DOID:9271", "label": "ornithine carbamoyltransferase deficiency", "link_status": true, "children": [] }, { "id": "DOID:9273", "label": "citrullinemia", "link_status": true, "children": [ { "id": "DOID:0070340", "label": "classic citrullinemia", "link_status": true, "children": [] }, { "id": "DOID:0070341", "label": "neonatal-onset type II citrullinemia", "link_status": true, "children": [] }, { "id": "DOID:0070342", "label": "adult-onset type II citrullinemia", "link_status": true, "children": [] } ] }, { "id": "DOID:9278", "label": "hyperargininemia", "link_status": true, "children": [] }, { "id": "DOID:9280", "label": "carbamoyl phosphate synthetase I deficiency disease", "link_status": true, "children": [] } ] }, { "id": "DOID:9268", "label": "glycine encephalopathy", "link_status": true, "children": [ { "id": "DOID:0061001", "label": "glycine encephalopathy 2", "link_status": true, "children": [] }, { "id": "DOID:0070616", "label": "glycine encephalopathy 1", "link_status": true, "children": [] } ] }, { "id": "DOID:9270", "label": "alkaptonuria", "link_status": true, "children": [] }, { "id": "DOID:9274", "label": "hyperlysinemia", "link_status": true, "children": [] }, { "id": "DOID:9275", "label": "tyrosinemia", "link_status": true, "children": [ { "id": "DOID:0050725", "label": "tyrosinemia type II", "link_status": true, "children": [] }, { "id": "DOID:0050726", "label": "tyrosinemia type I", "link_status": true, "children": [] }, { "id": "DOID:0050727", "label": "tyrosinemia type III", "link_status": true, "children": [] } ] }, { "id": "DOID:9279", "label": "hyperhomocysteinemia", "link_status": true, "children": [] }, { "id": "DOID:9281", "label": "phenylketonuria", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:9120", "label": "amyloidosis", "link_status": true, "children": [ { "id": "DOID:0050636", "label": "hereditary systemic amyloidosis 2", "link_status": true, "children": [] }, { "id": "DOID:0050638", "label": "hereditary systemic amyloidosis 1", "link_status": true, "children": [] }, { "id": "DOID:0050639", "label": "primary cutaneous amyloidosis", "link_status": true, "children": [ { "id": "DOID:0050637", "label": "Finnish type amyloidosis", "link_status": true, "children": [] }, { "id": "DOID:0080930", "label": "primary localized cutaneous amyloidosis 1", "link_status": true, "children": [] }, { "id": "DOID:0080931", "label": "primary localized cutaneous amyloidosis 2", "link_status": true, "children": [] }, { "id": "DOID:0080932", "label": "primary localized cutaneous amyloidosis 3", "link_status": true, "children": [] } ] }, { "id": "DOID:0080933", "label": "immunoglobulin light chain amyloidosis", "link_status": true, "children": [] }, { "id": "DOID:9246", "label": "cerebral amyloid angiopathy", "link_status": true, "children": [ { "id": "DOID:0070027", "label": "CST3-related cerebral amyloid angiopathy", "link_status": true, "children": [] }, { "id": "DOID:0070028", "label": "APP-related cerebral amyloid angiopathy", "link_status": true, "children": [] }, { "id": "DOID:0070029", "label": "ITM2B-related cerebral amyloid angiopathy 1", "link_status": true, "children": [] }, { "id": "DOID:0070030", "label": "ITM2B-related cerebral amyloid angiopathy 2", "link_status": true, "children": [] } ] } ] } ], "id_list": [ "DOID:0111402", "DOID:0111469", "DOID:0070453", "DOID:9269", "DOID:12798", "DOID:0060740", "DOID:0111629", "DOID:0080678", "DOID:9274", "DOID:0111476", "DOID:13381", "DOID:0111459", "DOID:0111464", "DOID:0112117", "DOID:0110729", "DOID:0080071", "DOID:0061173", "DOID:9265", "DOID:0070342", "DOID:9279", "DOID:0080360", "DOID:3633", "DOID:12801", "DOID:0070619", "DOID:0112086", "DOID:0110730", "DOID:0111477", "DOID:0090109", "DOID:14365", "DOID:0060701", "DOID:0111369", "DOID:0111165", "DOID:0111494", "DOID:0070253", "DOID:0080335", "DOID:1838", "DOID:0061185", "DOID:0110004", "DOID:0061286", "DOID:0110732", "DOID:9273", "DOID:0060602", "DOID:0110720", "DOID:0080930", "DOID:0080559", "DOID:0112111", "DOID:0050605", "DOID:0111393", "DOID:0050722", "DOID:0070462", "DOID:0050712", "DOID:0061186", "DOID:0050798", "DOID:0070654", "DOID:0080476", "DOID:14498", "DOID:0080490", "DOID:653", "DOID:0111042", "DOID:0061287", "DOID:0080622", "DOID:9452", "DOID:0070002", "DOID:0050758", "DOID:3803", "DOID:0014667", "DOID:0090028", "DOID:0111368", "DOID:0080126", "DOID:0051047", "DOID:0061212", "DOID:0111482", "DOID:0050723", "DOID:3413", "DOID:0080558", "DOID:0112113", "DOID:0061204", "DOID:2582", "DOID:0060999", "DOID:0080053", "DOID:0111329", "DOID:0111418", "DOID:0070452", "DOID:0060175", "DOID:0070497", "DOID:9351", "DOID:2018", "DOID:0111068", "DOID:4423", "DOID:0112085", "DOID:0080274", "DOID:0090106", "DOID:2749", "DOID:0060700", "DOID:11721", "DOID:0050884", "DOID:0080564", "DOID:0070516", "DOID:4184", "DOID:0111027", "DOID:0070491", "DOID:3321", "DOID:0111273", "DOID:0110759", "DOID:0070425", "DOID:182", "DOID:0070561", "DOID:0112256", "DOID:2752", "DOID:0111143", "DOID:0050727", "DOID:0070448", "DOID:9270", "DOID:1168", "DOID:0111030", "DOID:0050336", "DOID:0070257", "DOID:0080931", "DOID:0050731", "DOID:0111254", "DOID:1919", "DOID:0110757", "DOID:0061128", "DOID:3652", "DOID:0070616", "DOID:0112097", "DOID:0060702", "DOID:2345", "DOID:0111164", "DOID:0060235", "DOID:9268", "DOID:0070261", "DOID:12678", "DOID:0080562", "DOID:0050729", "DOID:0111483", "DOID:893", "DOID:0111099", "DOID:0050544", "DOID:10581", "DOID:4795", "DOID:0110001", "DOID:0070029", "DOID:0080580", "DOID:13810", "DOID:0050032", "DOID:0112114", "DOID:2978", "DOID:0080124", "DOID:0111330", "DOID:0111497", "DOID:0050441", "DOID:0070464", "DOID:0110961", "DOID:0080134", "DOID:0111499", "DOID:0080573", "DOID:0070542", "DOID:2344", "DOID:0112246", "DOID:0112225", "DOID:0050832", "DOID:0112115", "DOID:0112088", "DOID:9280", "DOID:0111352", "DOID:1926", "DOID:0050719", "DOID:0080846", "DOID:0060650", "DOID:0050726", "DOID:0112081", "DOID:0080542", "DOID:4810", "DOID:0080579", "DOID:0060168", "DOID:0051049", "DOID:0080136", "DOID:0080140", "DOID:0110727", "DOID:0070500", "DOID:0080623", "DOID:0111485", "DOID:0111585", "DOID:10587", "DOID:0050715", "DOID:0112078", "DOID:0060741", "DOID:0070429", "DOID:0111479", "DOID:0080482", "DOID:0112068", "DOID:0050799", "DOID:0060158", "DOID:0061271", "DOID:0050524", "DOID:0112099", "DOID:0070477", "DOID:0111277", "DOID:0081168", "DOID:0050800", "DOID:654", "DOID:0070543", "DOID:0112084", "DOID:0080112", "DOID:0070447", "DOID:0080111", "DOID:896", "DOID:0060350", "DOID:0090044", "DOID:0070449", "DOID:0081446", "DOID:0061180", "DOID:0060333", "DOID:0070502", "DOID:0050476", "DOID:14755", "DOID:0111478", "DOID:0050768", "DOID:0111067", "DOID:0050730", "DOID:0070503", "DOID:11717", "DOID:0111257", "DOID:0080359", "DOID:0111038", "DOID:0070219", "DOID:0080563", "DOID:9120", "DOID:0050573", "DOID:0051050", "DOID:0050571", "DOID:0111102", "DOID:0070266", "DOID:9870", "DOID:4346", "DOID:0111034", "DOID:0111108", "DOID:0111029", "DOID:2739", "DOID:0080933", "DOID:0111338", "DOID:0111472", "DOID:0060536", "DOID:0070752", "DOID:0050716", "DOID:0060699", "DOID:0111390", "DOID:0111037", "DOID:0111680", "DOID:0070507", "DOID:5212", "DOID:0111040", "DOID:0111260", "DOID:14701", "DOID:0111475", "DOID:0080488", "DOID:0070734", "DOID:0070238", "DOID:2750", "DOID:0080217", "DOID:0080540", "DOID:0111933", "DOID:0112213", "DOID:10915", "DOID:0111180", "DOID:11981", "DOID:0060884", "DOID:0090108", "DOID:0070505", "DOID:0090126", "DOID:0051029", "DOID:8456", "DOID:0111750", "DOID:0070476", "DOID:0110749", "DOID:0112250", "DOID:0080133", "DOID:0112082", "DOID:8454", "DOID:0080128", "DOID:0081241", "DOID:0080946", "DOID:0060693", "DOID:14692", "DOID:0080120", "DOID:0080478", "DOID:0061288", "DOID:0111263", "DOID:905", "DOID:0112321", "DOID:0050459", "DOID:0070541", "DOID:0111041", "DOID:0070430", "DOID:0110723", "DOID:0060969", "DOID:1837", "DOID:0080153", "DOID:0060881", "DOID:1060", "DOID:0080932", "DOID:0060991", "DOID:0081131", "DOID:700", "DOID:0060996", "DOID:0110003", "DOID:0112319", "DOID:0111500", "DOID:906", "DOID:3323", "DOID:0060639", "DOID:0060176", "DOID:3890", "DOID:0111486", "DOID:0111898", "DOID:10575", "DOID:0050461", "DOID:0111481", "DOID:0111062", "DOID:0061205", "DOID:0070341", "DOID:0111671", "DOID:0070446", "DOID:0080483", "DOID:11249", "DOID:0111070", "DOID:0111039", "DOID:0050797", "DOID:3322", "DOID:0111395", "DOID:0111272", "DOID:13269", "DOID:0060728", "DOID:0111493", "DOID:0112079", "DOID:0112073", "DOID:3651", "DOID:0050638", "DOID:0112100", "DOID:0111646", "DOID:9352", "DOID:1387", "DOID:0080536", "DOID:9271", "DOID:0110726", "DOID:2352", "DOID:0080480", "DOID:13270", "DOID:0112070", "DOID:0070501", "DOID:0060222", "DOID:0111362", "DOID:0050811", "DOID:14026", "DOID:0060336", "DOID:3132", "DOID:0070028", "DOID:859", "DOID:0070332", "DOID:0081435", "DOID:0111270", "DOID:0080222", "DOID:0070478", "DOID:0081330", "DOID:9266", "DOID:0070245", "DOID:9970", "DOID:0080154", "DOID:374", "DOID:0051051", "DOID:0110724", "DOID:0070495", "DOID:0111104", "DOID:0112071", "DOID:0070499", "DOID:0060950", "DOID:0112118", "DOID:0111465", "DOID:0090101", "DOID:0060236", "DOID:0080556", "DOID:2741", "DOID:0070217", "DOID:0061181", "DOID:0112119", "DOID:0112072", "DOID:0112255", "DOID:0111394", "DOID:0080122", "DOID:0080131", "DOID:3343", "DOID:0080377", "DOID:0061172", "DOID:11712", "DOID:0111391", "DOID:3145", "DOID:0080486", "DOID:0081436", "DOID:0061285", "DOID:0112069", "DOID:0080129", "DOID:0070241", "DOID:0112252", "DOID:0070113", "DOID:857", "DOID:0080571", "DOID:0080565", "DOID:0050833", "DOID:0112138", "DOID:0110002", "DOID:0080118", "DOID:0111107", "DOID:0050757", "DOID:0111422", "DOID:1172", "DOID:14753", "DOID:0061135", "DOID:1388", "DOID:0080336", "DOID:0080568", "DOID:0110744", "DOID:0112098", "DOID:0070267", "DOID:0080567", "DOID:0061001", "DOID:0112076", "DOID:0060949", "DOID:0112090", "DOID:0070216", "DOID:0110721", "DOID:0112180", "DOID:0110756", "DOID:0080535", "DOID:6652", "DOID:0050728", "DOID:0112263", "DOID:856", "DOID:0111389", "DOID:9252", "DOID:0111100", "DOID:0080172", "DOID:0111587", "DOID:0070263", "DOID:0080138", "DOID:0050717", "DOID:0111681", "DOID:0111063", "DOID:2754", "DOID:0081440", "DOID:0070428", "DOID:0070496", "DOID:0110957", "DOID:0112137", "DOID:0080699", "DOID:0111261", "DOID:0111139", "DOID:0070254", "DOID:0050636", "DOID:0112139", "DOID:0080357", "DOID:0070239", "DOID:14723", "DOID:0070000", "DOID:0111749", "DOID:0080127", "DOID:0070463", "DOID:0070215", "DOID:0111498", "DOID:0112080", "DOID:0111748", "DOID:12119", "DOID:0080541", "DOID:0112110", "DOID:0111111", "DOID:0111043", "DOID:0080121", "DOID:0070265", "DOID:0070737", "DOID:0070030", "DOID:0050464", "DOID:0081437", "DOID:0060537", "DOID:12802", "DOID:0070735", "DOID:0070562", "DOID:0080170", "DOID:0050718", "DOID:0070244", "DOID:0090107", "DOID:0080574", "DOID:0112087", "DOID:0051013", "DOID:0050574", "DOID:0111473", "DOID:0060357", "DOID:0112112", "DOID:0070269", "DOID:0060332", "DOID:0111028", "DOID:0060882", "DOID:0111420", "DOID:0090045", "DOID:0060159", "DOID:0070742", "DOID:0070242", "DOID:0111583", "DOID:0110728", "DOID:0080070", "DOID:0110722", "DOID:0112258", "DOID:5230", "DOID:0080502", "DOID:11714", "DOID:0070218", "DOID:0070498", "DOID:0080554", "DOID:1927", "DOID:0112093", "DOID:0081240", "DOID:0081433", "DOID:2977", "DOID:0112095", "DOID:0111103", "DOID:0080119", "DOID:0081377", "DOID:0080569", "DOID:0081438", "DOID:4367", "DOID:0070262", "DOID:5204", "DOID:0080116", "DOID:0070111", "DOID:0070424", "DOID:0080557", "DOID:0111031", "DOID:0080477", "DOID:0110958", "DOID:13809", "DOID:0112066", "DOID:12308", "DOID:0070545", "DOID:1029", "DOID:0070750", "DOID:1064", "DOID:0080547", "DOID:0111633", "DOID:0050637", "DOID:13628", "DOID:0050639", "DOID:2862", "DOID:0070112", "DOID:0111501", "DOID:0080485", "DOID:0060363", "DOID:14503", "DOID:0070461", "DOID:0090123", "DOID:0050570", "DOID:14499", "DOID:0081326", "DOID:0080925", "DOID:0110000", "DOID:0112091", "DOID:0080958", "DOID:12800", "DOID:3211", "DOID:0110960", "DOID:655", "DOID:9993", "DOID:1386", "DOID:0111276", "DOID:0050733", "DOID:9281", "DOID:8457", "DOID:0061272", "DOID:0080363", "DOID:0111619", "DOID:0080337", "DOID:0111458", "DOID:0081134", "DOID:0111258", "DOID:2368", "DOID:0111703", "DOID:3133", "DOID:9969", "DOID:0050720", "DOID:4183", "DOID:0070256", "DOID:0090105", "DOID:0081439", "DOID:0111110", "DOID:0080484", "DOID:0070214", "DOID:0080489", "DOID:0112083", "DOID:0080117", "DOID:0051053", "DOID:0080125", "DOID:0080572", "DOID:1391", "DOID:0060331", "DOID:10604", "DOID:0070544", "DOID:0111491", "DOID:0111679", "DOID:0080075", "DOID:0090145", "DOID:0080501", "DOID:0111453", "DOID:0050579", "DOID:0112096", "DOID:0090142", "DOID:0050083", "DOID:0060883", "DOID:0111071", "DOID:0080139", "DOID:0050711", "DOID:2746", "DOID:0111066", "DOID:0070494", "DOID:8455", "DOID:0081274", "DOID:0111480", "DOID:9278", "DOID:0070114", "DOID:0080358", "DOID:0112094", "DOID:0051048", "DOID:0060880", "DOID:0080114", "DOID:0050452", "DOID:0070560", "DOID:2351", "DOID:14500", "DOID:0050649", "DOID:0081329", "DOID:0111455", "DOID:0111069", "DOID:0111865", "DOID:0111488", "DOID:0061182", "DOID:14502", "DOID:0111392", "DOID:0061203", "DOID:0060638", "DOID:0060334", "DOID:0111839", "DOID:0060743", "DOID:0080543", "DOID:0110731", "DOID:0080076", "DOID:0081034", "DOID:14452", "DOID:0070340", "DOID:14504", "DOID:0050818", "DOID:0060972", "DOID:4500", "DOID:9275", "DOID:0110725", "DOID:0110959", "DOID:0050762", "DOID:0111487", "DOID:0061189", "DOID:0080113", "DOID:13271", "DOID:0070264", "DOID:0111489", "DOID:0111061", "DOID:12700", "DOID:0060640", "DOID:0070563", "DOID:0081434", "DOID:0070508", "DOID:0080553", "DOID:0080561", "DOID:0061136", "DOID:9869", "DOID:0070243", "DOID:0061004", "DOID:0070330", "DOID:9246", "DOID:13372", "DOID:0110741", "DOID:0051052", "DOID:0080566", "DOID:0070260", "DOID:0111106", "DOID:0080570", "DOID:0070733", "DOID:0070485", "DOID:0050437", "DOID:0112318", "DOID:0050734", "DOID:0112317", "DOID:0111163", "DOID:11801", "DOID:0060358", "DOID:0070259", "DOID:9455", "DOID:0112077", "DOID:0061207", "DOID:0112127", "DOID:4195", "DOID:0111032", "DOID:0070492", "DOID:0080665", "DOID:3659", "DOID:3345", "DOID:0112065", "DOID:0111466", "DOID:0111370", "DOID:0070479", "DOID:12804", "DOID:0111502", "DOID:0080839", "DOID:0080479", "DOID:0080135", "DOID:0081331", "DOID:0070329", "DOID:0080624", "DOID:0080481", "DOID:9263", "DOID:0050713", "DOID:2485", "DOID:0080123", "DOID:0070450", "DOID:0111540", "DOID:0081130", "DOID:0090031", "DOID:0111490", "DOID:0111417", "DOID:13317", "DOID:0050721", "DOID:0070268", "DOID:0111678", "DOID:0112074", "DOID:0080487", "DOID:1920", "DOID:0111109", "DOID:14497", "DOID:0070220", "DOID:14451", "DOID:0080666", "DOID:0111670", "DOID:0112262", "DOID:12799", "DOID:0050725", "DOID:0060439", "DOID:14749", "DOID:0080208", "DOID:0080957", "DOID:3762", "DOID:0080361", "DOID:0070493", "DOID:0112075", "DOID:0080555", "DOID:14218", "DOID:0111814", "DOID:0111471", "DOID:0060990", "DOID:0080537", "DOID:0070451", "DOID:0112307", "DOID:10582", "DOID:0111351", "DOID:0112257", "DOID:0050724", "DOID:1701", "DOID:0111672", "DOID:0112067", "DOID:4194", "DOID:0111467", "DOID:5113", "DOID:0110746", "DOID:0070504", "DOID:3146", "DOID:0081328", "DOID:0060879", "DOID:9267", "DOID:0060174", "DOID:0070540", "DOID:0061174", "DOID:0050710", "DOID:3650", "DOID:0081132", "DOID:0061206", "DOID:0070426", "DOID:2748", "DOID:0070027", "DOID:0080155", "DOID:14118", "DOID:0070313", "DOID:0111474", "DOID:0111492", "DOID:0070427", "DOID:0111495", "DOID:0112089", "DOID:0080130", "DOID:0112092", "DOID:11716", "DOID:0050674", "DOID:0070240", "DOID:0112116", "DOID:0070255", "DOID:0111496", "DOID:0112101", "DOID:0060351", "DOID:2747", "DOID:0080503", "DOID:0111166", "DOID:9744", "DOID:1390", "DOID:0070506", "DOID:1171", "DOID:0111484", "DOID:0060742", "DOID:0111105", "DOID:3649", "DOID:0080115", "DOID:0070258", "DOID:0081273", "DOID:0111468", "DOID:0111626", "DOID:0080552", "DOID:3320", "DOID:0080132", "DOID:0050575", "DOID:0070736", "DOID:0090129", "DOID:0111470", "DOID:12803", "DOID:0081133", "DOID:10603", "DOID:0050594", "DOID:0111588", "DOID:13268", "DOID:0080560", "DOID:0060286", "DOID:14695", "DOID:0050809", "DOID:0060885" ], "unlinked_id_list": [ "DOID:0080541", "DOID:0050832", "DOID:0081377", "DOID:0060333", "DOID:0060176", "DOID:0070313", "DOID:0111368", "DOID:10575", "DOID:0050674", "DOID:9265", "DOID:2345", "DOID:0050728", "DOID:0060159", "DOID:0111034", "DOID:0112100", "DOID:2485", "DOID:0050032", "DOID:0081132", "DOID:0111417", "DOID:9267", "DOID:0050721", "DOID:0081329", "DOID:0050594", "DOID:0112317", "DOID:0110003", "DOID:857", "DOID:2368" ] }