Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 218 417
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133 505
C0700292 Hypoxemia phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the respiratory system 33 7
C0428977 Bradycardia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 26 2
C0010278 Craniosynostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 20 33
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 18 62
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 17 579
C0265535 Trigonocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 16 6
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 104
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 15 23
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 11 50
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 11 22
C0349588 Short stature phenotype Finding Growth abnormality 10 292
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 8 120
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 8 13
C0034013 Precocious Puberty disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 7 4
C0549423 Obstructive Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 7 1
C0020295 Hydronephrosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 5 17
C0020635 Hypopituitarism disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 5 1
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 4 245
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 4 83
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 4 39
C0271801 Central hypothyroidism disease Endocrine System Diseases Disease or Syndrome Abnormality of the endocrine system 4 3
C0001623 Adrenal gland hypofunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 4 2
C3714796 Isolated somatotropin deficiency disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 3 12