Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0349588 Short stature phenotype Finding Growth abnormality 1122
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 954
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 942
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 609
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
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 491
C4553743 Spasticity, CTCAE phenotype Finding 476
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 472
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 432
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 420
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 347
C0040822 Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 345
C0432072 Dysmorphic features disease Congenital Abnormality 335
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 326
C0235946 Cerebral atrophy disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 319
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 271