CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023453 L2 Acute Lymphoblastic Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 50 0
C0013182 Drug Allergy group Immune System Diseases; Chemically-Induced Disorders Pathologic Function 35 0
C0027794 Neural Tube Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 30 0
C0152426 Craniorachischisis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 29 0
C0080218 Tethered Cord Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 28 2
C0011999 Diastematomyelia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0
C0027806 Neurenteric Cyst disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 28 0
C0152234 Iniencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0
C0266453 Exencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 28 0
C0344479 Spinal Cord Myelodysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0
C0702169 Acrania disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 28 0
C0023530 Leukopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 8 10
C0028796 Dermatitis, Occupational disease Skin and Connective Tissue Diseases; Occupational Diseases Disease or Syndrome disease of anatomical entity 8 0
C0086457 Industrial Dermatosis disease Skin and Connective Tissue Diseases; Occupational Diseases Disease or Syndrome 8 0