Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1845274 Abnormal conjugate eye movement phenotype Finding Abnormality of the eye 0 5
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 0 37
C0852413 Abnormal muscle tone phenotype Nervous System Diseases Finding Abnormality of the musculature 6 7
C1859347 Abnormal subcutaneous fat tissue distribution phenotype Finding Abnormality of the integument; Abnormality of connective tissue 0 2
C4025724 Abnormality of the cerebral ventricles disease Anatomical Abnormality Abnormality of the nervous system 0 5
C1854882 Absent speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 0 72
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 0 58
C0002418 Amblyopia phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 0 27
C0427190 Ataxia, Truncal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 16 13
C0006157 Breech Presentation phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 0 11
C4022735 Cerebral white matter atrophy disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the nervous system 0 11
C0008489 Chorea phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health Abnormality of the nervous system 2 14
C0401149 Chronic constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system 0 15
C0079352 Congenital torticollis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the musculature 0 6
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 5 27
C0263401 Cutis marmorata disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the integument; Abnormality of the cardiovascular system 0 9
C4021758 Delayed CNS myelination disease Anatomical Abnormality Abnormality of the nervous system 0 4
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 5 192
C0311394 Difficulty walking phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system; Abnormality of the musculature 0 30
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 86 61
C0013595 Eczema disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 4 215
C0151611 Electroencephalogram abnormal phenotype Nervous System Diseases Finding Abnormality of the nervous system 1 27
C4310700 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 disease Disease or Syndrome disease of anatomical entity 1 13
C0014877 Esotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 0 39
C1740801 Exaggerated startle response phenotype Finding Abnormality of the nervous system 0 4