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{
"nodes": [
{
"id": "C0678236",
"name": "Rare Diseases",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1834219",
"name": "Parathyroid disease rare",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0920627",
"name": "Orphan Diseases",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0019247",
"name": "Hereditary Diseases",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C5816793",
"name": "Imprinting Disorders",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0013720",
"name": "Ehlers-Danlos Syndrome",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0268344",
"name": "Ehlers-Danlos syndrome 6B",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0268338",
"name": "Ehlers-Danlos Syndrome, Type IV",
"type": "Disease",
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},
{
"id": "C0268342",
"name": "Ehlers-Danlos syndrome type 6",
"type": "Disease",
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},
{
"id": "C0268336",
"name": "Ehlers-Danlos syndrome type 2",
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},
{
"id": "C0268335",
"name": "Ehlers-Danlos syndrome type 1",
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"source": "UMLS"
},
{
"id": "C0268347",
"name": "Ehlers-Danlos Syndrome, Type VIII",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0268337",
"name": "Ehlers-Danlos syndrome, type 3 (disorder)",
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},
{
"id": "C0268341",
"name": "Ehlers-Danlos syndrome type 5",
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"source": "UMLS"
},
{
"id": "C4552003",
"name": "Ehlers-Danlos syndrome progeroid type",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C2676510",
"name": "Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",
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"source": "UMLS"
},
{
"id": "C4551497",
"name": "Ehlers-Danlos syndrome kyphoscoliotic type",
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},
{
"id": "C1857034",
"name": "Ehlers-Danlos syndrome, cardiac valvular form",
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},
{
"id": "C2700425",
"name": "EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",
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"source": "UMLS"
},
{
"id": "C1857038",
"name": "Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality",
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"source": "UMLS"
},
{
"id": "C4225429",
"name": "Ehlers-Danlos syndrome classic type",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1837462",
"name": "Ehlers-Danlos syndrome, Beasley Cohen type",
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"source": "UMLS"
},
{
"id": "C4551623",
"name": "EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0220679",
"name": "Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified",
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"source": "UMLS"
},
{
"id": "C1848029",
"name": "Ehlers-Danlos syndrome caused by tenascin-X deficiency",
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"source": "UMLS"
},
{
"id": "C1866294",
"name": "EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3502156",
"name": "Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly",
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"source": "UMLS"
},
{
"id": "C4303789",
"name": "Ehlers-Danlos syndrome cardiac valvular type",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3809210",
"name": "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome",
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"source": "UMLS"
},
{
"id": "C4540530",
"name": "EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT",
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"source": "UMLS"
},
{
"id": "C0024796",
"name": "Marfan Syndrome",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016054",
"name": "Neonatal Marfan syndrome",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016055",
"name": "MARFAN SYNDROME, ATYPICAL",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016056",
"name": "MARFAN SYNDROME, MILD",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016057",
"name": "MARFAN SYNDROME, CLASSIC",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4721845",
"name": "Marfan Syndrome, Type I",
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"source": "UMLS"
},
{
"id": "C2931058",
"name": "Marfan Syndrome Type 2",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016053",
"name": "MARFAN SYNDROME, MILD VARIABLE",
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"source": "UMLS"
},
{
"id": "C4016052",
"name": "MARFAN SYNDROME, SEVERE CLASSIC",
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"source": "UMLS"
},
{
"id": "C4016059",
"name": "MARFAN SYNDROME, AUTOSOMAL RECESSIVE",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4310796",
"name": "MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C2674574",
"name": "Aortic aneurysm, familial thoracic 3",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4308213",
"name": "FBN1 protein, human",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0002986",
"name": "Fabry Disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1970820",
"name": "Fabry Disease, Cardiac Variant",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0017205",
"name": "Gaucher Disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0268251",
"name": "Gaucher Disease, Type 3",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0268250",
"name": "Gaucher Disease, Type 2",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1961835",
"name": "Gaucher Disease, Type 1",
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"source": "UMLS"
},
{
"id": "C2931585",
"name": "Gaucher-like disease",
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},
{
"id": "C1842704",
"name": "GAUCHER DISEASE, PERINATAL LETHAL",
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"source": "UMLS"
},
{
"id": "C1856476",
"name": "Gaucher Disease, Type Iiic",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1856491",
"name": "Gaucher Disease, Type IIIa",
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},
{
"id": "C1856492",
"name": "Gaucher Disease, Type IIIb",
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},
{
"id": "C1856493",
"name": "Gaucher Disease, Norrbottnian Type",
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"source": "UMLS"
},
{
"id": "C2930815",
"name": "Acute cerebral Gaucher disease",
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"source": "UMLS"
},
{
"id": "C1864651",
"name": "GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1436561",
"name": "PSAP protein, human",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0020179",
"name": "Huntington Disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0751208",
"name": "Juvenile Huntington Disease",
"type": "Disease",
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},
{
"id": "C1864112",
"name": "HUNTINGTON DISEASE-LIKE 1",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3711380",
"name": "Huntington Disease-Like Syndrome",
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"source": "UMLS"
},
{
"id": "C1847987",
"name": "HUNTINGTON DISEASE-LIKE 2",
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"source": "UMLS"
},
{
"id": "C0393574",
"name": "Huntington Disease, Late Onset",
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"source": "UMLS"
},
{
"id": "C1858114",
"name": "HUNTINGTON DISEASE-LIKE 3 (disorder)",
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"source": "UMLS"
},
{
"id": "C0751207",
"name": "Akinetic-Rigid Variant of Huntington Disease",
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"source": "UMLS"
},
{
"id": "C4255255",
"name": "Huntingtin Protein",
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},
{
"id": "C1846707",
"name": "SPINOCEREBELLAR ATAXIA 17",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0252274",
"name": "HD protein, human",
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},
{
"id": "C1675330",
"name": "Htt protein, mouse",
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"source": "UMLS"
},
{
"id": "C1567843",
"name": "Htt protein, rat",
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},
{
"id": "C1279186",
"name": "Westphal disease",
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"source": "UMLS"
},
{
"id": "C0010674",
"name": "Cystic Fibrosis",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0392164",
"name": "Pulmonary Cystic Fibrosis",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0056888",
"name": "cystic fibrosis serum factor",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0056889",
"name": "Cystic Fibrosis Transmembrane Conductance Regulator",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1859047",
"name": "CYSTIC FIBROSIS, MODIFIER OF, 1",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C2931413",
"name": "Follicular hamartoma alopecia cystic fibrosis",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1527396",
"name": "Fibrocystic Disease of Pancreas",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016407",
"name": "CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016791",
"name": "SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1366582",
"name": "S100A8 gene",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0054504",
"name": "Calgranulin A",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0651197",
"name": "cystic fibrosis transmembrane conductance regulator (505-511)",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0297062",
"name": "cystic fibrosis transmembrane conductance regulator delta F508",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3276246",
"name": "MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1335798",
"name": "S100A9 gene",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C2749757",
"name": "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C2751324",
"name": "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C2751666",
"name": "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0055725",
"name": "ciliary dyskinesia factor",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1413365",
"name": "CFTR gene",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1840270",
"name": "PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1857424",
"name": "Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3806255",
"name": "CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3659855",
"name": "CFTR protein, rat",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4742376",
"name": "Cftr protein, mouse",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0751434",
"name": "Classical phenylketonuria",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0031485",
"name": "Phenylketonurias",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0268465",
"name": "Phenylketonuria II",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0085547",
"name": "Phenylketonuria, Maternal",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0002895",
"name": "Anemia, Sickle Cell",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0019034",
"name": "Hemoglobin SC Disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0039730",
"name": "Thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0005283",
"name": "beta Thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0002312",
"name": "alpha-Thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0085578",
"name": "Thalassemia Minor",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0271979",
"name": "Thalassemia Intermedia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0271990",
"name": "delta-Thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0271985",
"name": "Delta-Beta Thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0472762",
"name": "Alpha trait thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0472767",
"name": "Beta thalassemia intermedia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0002875",
"name": "Cooley's anemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3841475",
"name": "Beta plus thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0271980",
"name": "Beta zero thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0271991",
"name": "Delta zero thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1456873",
"name": "Alpha plus thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0472777",
"name": "Hemoglobin E/beta thalassemia disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016190",
"name": "DELTA-PLUS-THALASSEMIA",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4017494",
"name": "BETA-KNOSSOS-THALASSEMIA",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4017510",
"name": "BETA-MALAY-THALASSEMIA",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4017526",
"name": "BETA-HOUSTON-THALASSEMIA",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1858990",
"name": "Beta Thalassemia, Dominant Inclusion Body Type",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0585216",
"name": "Alpha-Thalassemia Myelodysplasia Syndrome",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4310973",
"name": "BETA-THALASSEMIA INTERMEDIA, DOMINANT",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4017522",
"name": "BETA-SHOWA-YAKUSHIJI THALASSEMIA",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016247",
"name": "Gamma delta beta thalassemia",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1861232",
"name": "Thalassemia, Beta+, Silent Allele",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0019202",
"name": "Hepatolenticular Degeneration",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0296649",
"name": "Wilson disease protein",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1527352",
"name": "Hepatic Form of Wilson Disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4759705",
"name": "Intracapillary glomerulosclerosis due to diabetes mellitus",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4547003",
"name": "ATP7B protein, human",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0019069",
"name": "Hemophilia A",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0008533",
"name": "Hemophilia B",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C5848256",
"name": "Hemophilia B Leyden",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3494186",
"name": "Autosomal Hemophilia A",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0042974",
"name": "von Willebrand Disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0015523",
"name": "Hereditary Factor XI Deficiency",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C4016497",
"name": "HEMOPHILIA B BRANDENBURG",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0272325",
"name": "Factor 8 deficiency, acquired",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1844137",
"name": "Hemophilia A with Vascular Abnormality",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C3494187",
"name": "Factor VIII Deficiency",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0272322",
"name": "Severe hereditary factor VIII deficiency disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0272324",
"name": "Mild hereditary factor VIII deficiency disease",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1307126",
"name": "factor VIII, human",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0026850",
"name": "Muscular Dystrophy",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0013264",
"name": "Muscular Dystrophy, Duchenne",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0238288",
"name": "Muscular Dystrophy, Facioscapulohumeral",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0917713",
"name": "Becker Muscular Dystrophy",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0270952",
"name": "Muscular Dystrophy, Oculopharyngeal",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C1450052",
"name": "Tibial Muscular Dystrophy",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0410192",
"name": "Muscular Dystrophy, Scapulohumeral",
"type": "Disease",
"source": "UMLS"
},
{
"id": "C0699743",
"name": "Congenital muscular dystrophy (disorder)",
"type": "Disease",
"source": "UMLS"
},
{
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