Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133 505
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
C0427190 Ataxia, Truncal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 16 13
C0349588 Short stature phenotype Finding Growth abnormality 10 292
C4552072 X-linked infantile spasms disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 8 111
C0852413 Abnormal muscle tone phenotype Nervous System Diseases Finding Abnormality of the musculature 6 7
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 5 192
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 5 39
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 5 27
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
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 4 83
C0265529 Plagiocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 4 11
C0267071 Oropharyngeal Dysphagia disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 4 8
C1853743 Muscular hypotonia of the trunk phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 2 25
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
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 1 49
C0151611 Electroencephalogram abnormal phenotype Nervous System Diseases Finding Abnormality of the nervous system 1 27
C3553450 Profound global developmental delay disease Disease or Syndrome Abnormality of the nervous system 1 19
C0019572 Hirsutism phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding disease of anatomical entity Abnormality of the integument 1 17
C2700617 Irritation - emotion phenotype Behavior and Behavior Mechanisms Mental Process Abnormality of the nervous system 1 14
C4310700 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 disease Disease or Syndrome disease of anatomical entity 1 13
C0271385 Horizontal Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 1 11
C1856408 Infantile encephalopathy phenotype Nervous System Diseases Finding Abnormality of the nervous system 1 9
C0239174 Late tooth eruption phenotype Finding Abnormality of head or neck 1 4
C4310699 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 disease Disease or Syndrome 1 3