Source: HPO

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
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 721
C0036572 Seizures phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the nervous system 721
C1858120 Generalized hypotonia phenotype Finding Abnormality of the musculature 625
C0424688 Small head phenotype Finding Abnormality of head or neck; Abnormality of the nervous system; Abnormality of the skeletal system 551
C0231246 Failure to gain weight phenotype Finding Growth abnormality 528
C2315100 Pediatric failure to thrive disease Disease or Syndrome Growth abnormality 528
C4531021 Undergrowth phenotype Finding 528
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 480
C0026827 Muscle hypotonia phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding Abnormality of the musculature 432
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
C0018784 Sensorineural Hearing Loss (disorder) disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity Abnormality of the ear 402
C4024589 Aplasia/Hypoplasia of the mandible phenotype Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 396
C4476523 Decreased projection of lower jaw phenotype Anatomical Abnormality 394
C4476524 Decreased projection of mandible phenotype Anatomical Abnormality 394