Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1292
C0349588 Short stature phenotype Finding Growth abnormality 1122
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 596
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 574
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 426
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 284
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 181
C4049796 Abnormality of cardiovascular system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 172
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
C0302511 Small for gestational age fetus phenotype Pathological Conditions, Signs and Symptoms Finding 156
C1857679 Sloping forehead phenotype Finding Abnormality of head or neck 149
C1858430 Death in infancy phenotype Finding 146
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 130
C0426415 Large nose phenotype Finding Abnormality of head or neck 70
C4021813 Oral cleft disease Congenital Abnormality Abnormality of head or neck 61
C1281901 Fatty acid measurement group Laboratory Procedure 50
C0240912 Vertical Talus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 43
C0685695 Abnormal lung lobation disease Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 32
C1857641 Severe postnatal growth retardation phenotype Finding Growth abnormality 30