Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1 2345
C0007789 Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1 19
C0019572 Hirsutism phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding disease of anatomical entity Abnormality of the integument 1 17
C0023882 Little's Disease disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the musculature 1 6
C1857854 Proopiomelanocortin Deficiency disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 1 6
C0340375 Subaortic stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1 2
C0020488 Hypernatremia phenotype Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1 1
C0001231 ACTH Syndrome, Ectopic disease Neoplasms Disease or Syndrome disease of anatomical entity 1 0
C0001614 Adrenal Cortex Diseases group Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1 0
C0015469 Facial paralysis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 1 0
C0035411 Rhabdomyoma disease Neoplasms Neoplastic Process Neoplasm; Abnormality of the musculature 1 0
C0151827 Eye pain phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom Constitutional symptom; Abnormality of the eye 1 0
C0154695 Diplegic Infantile Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 0
C0154697 Cerebral Palsy, Quadriplegic, Infantile disease Nervous System Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 1 0
C0154698 Monoplegic Infantile Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 0
C0242217 Calcium Pyrophosphate Dihydrate Deposition phenotype Musculoskeletal Diseases Disease or Syndrome 1 0
C0270742 Athetoid cerebral palsy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 1 0
C0270807 Monoplegic Cerebral Palsy disease Nervous System Diseases Disease or Syndrome 1 0
C0338596 Spastic cerebral palsy disease Nervous System Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 1 0
C0393626 Opsoclonus-Myoclonus Syndrome disease Neoplasms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0
C0394003 Cerebral Palsy, Dystonic-Rigid disease Nervous System Diseases Disease or Syndrome 1 0
C0394007 Cerebral Palsy, Atonic disease Nervous System Diseases Disease or Syndrome 1 0
C0427055 Facial Paresis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 1 0
C0553767 Congenital Cerebral Palsy disease Nervous System Diseases Disease or Syndrome 1 0
C0574960 Sacroiliitis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 1 0