Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 252
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 246
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 216
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 210
C0085636 Photophobia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the eye 210
C1387005 Penis agenesis disease Male Urogenital Diseases Congenital Abnormality 205
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 198
C0026826 Muscle Hypertonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 196
C0266470 Cerebellar Hypoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality Abnormality of the nervous system 186
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 181
C1854113 Prominent nasal bridge phenotype Finding Abnormality of head or neck 180
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 171
C0409348 Flexion contracture of proximal interphalangeal joint phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 168
C0162298 Joint stiffness phenotype Musculoskeletal Diseases Sign or Symptom Abnormality of the skeletal system 159
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 157
C0302511 Small for gestational age fetus phenotype Pathological Conditions, Signs and Symptoms Finding 156
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 149
C1857679 Sloping forehead phenotype Finding Abnormality of head or neck 149
C0399526 Class III malocclusion disease Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 147
C1858430 Death in infancy phenotype Finding 146
C1963094 Dry Skin, CTCAE phenotype Finding 137
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 136
C0345392 Congenital kyphoscoliosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 136