CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1864897 Cognitive delay phenotype Finding Abnormality of the nervous system 965
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 965
C4020875 Mental and motor retardation phenotype Pathologic Function Abnormality of the nervous system 965
C4020876 Dull intelligence phenotype Finding Abnormality of the nervous system 946
C3714756 Intellectual Disability group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 946
C0423903 Low intelligence phenotype Finding Abnormality of the nervous system 946
C0917816 Mental deficiency disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction Abnormality of the nervous system 946
C0025362 Mental Retardation disease Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 946
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 946
C0349588 Short stature phenotype Finding Growth abnormality 739
C0700208 Acquired scoliosis phenotype Acquired Abnormality Abnormality of the skeletal system 402
C0037932 Curvature of spine phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 402
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 381
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck; Abnormality of the eye 365
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 364
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 338
C1839764 Broad flat nasal bridge phenotype Finding Abnormality of head or neck 329
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 329
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 280
C4280495 Concave bridge of nose phenotype Finding Abnormality of head or neck 274
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 274
C3550546 Depressed nasal root/bridge phenotype Finding Abnormality of head or neck 274
C0015934 Fetal Growth Retardation phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms Pathologic Function disease of anatomical entity Growth abnormality 274
C0021296 Infant, Small for Gestational Age phenotype Disease or Syndrome Growth abnormality 274
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 274