Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 954
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 803
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 773
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 682
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 609
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 536
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 470
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
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 308
C0034935 Babinski Reflex phenotype Finding Abnormality of the nervous system 218
C1845977 X- linked recessive phenotype Finding 172
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
C0037822 Speech Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system 128
C0234162 Cerebellar Dysmetria phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 125
C0234376 Action Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 81
C0009024 Clonus phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 59
C0234979 Dysdiadochokinesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 48
C0271901 Microcytic hypochromic anemia (disorder) disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 12
C0002896 Sideroblastic anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 10
C1845029 Nonprogressive cerebellar ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 9
C1845028 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1