Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0342467 Late onset congenital adrenal hyperplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 4 1
C3715147 Necrotising myositis disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0
C4024608 Necrotizing myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 4 0
C4302167 Autoimmune myopathy disease Immune System Diseases Disease or Syndrome 4 0
C0270970 Reducing-body myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 1
C0342907 Sitosterolemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality genetic disease; disease of anatomical entity 11 4
C3267047 Autoimmune necrotizing myopathy disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0
C0342881 Familial hypercholesterolemia - homozygous disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 20 17
C0020476 Hyperlipoproteinemias disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 23 7
C0238124 Necrotizing fasciitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 24 0
C1858723 Poikiloderma with Neutropenia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 25 1
C0175694 Smith-Lemli-Opitz Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 28 14
C0342882 Familial hypercholesterolemia - heterozygous disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34
C0001622 Adrenal Gland Hyperfunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity 50 0
C0342788 Renal carnitine transport defect disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 57 6
C3665365 Arteriosclerotic cardiovascular disease, NOS disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 58 5
C2939465 Deficiency of glucose-6-phosphate dehydrogenase disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of metabolism 74 16
C0205969 Thymic Carcinoma disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 80 8
C0020474 Hyperlipidemia, Familial Combined disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 87 26
C0154251 Lipid Metabolism Disorders group Nutritional and Metabolic Diseases Disease or Syndrome 94 10
C0751356 Idiopathic Inflammatory Myopathies disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 103 4
C0151718 Hypocholesterolemia disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 104 20
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 104 16
C0231528 Myalgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom disease of anatomical entity Constitutional symptom 107 14
C0393591 AICARDI-GOUTIERES SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 116 8