Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 218 417
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 104 21
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 164
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 104
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 11 50
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 9 24
C0085207 Gestational Diabetes phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of the endocrine system 9 20
C2936786 Aqueductal Stenosis disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 8 2
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 7 49
C0009451 Communicating Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 7 1
C1527366 Salaam Seizures disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 6 7
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 5 192
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 5 27
C1846385 FOCAL CORTICAL DYSPLASIA OF TAYLOR disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 3 24
C0162834 Hyperpigmentation phenotype Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 3 11
C0162835 Hypopigmentation disorder disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 3 6
C1837249 Malformations of Cortical Development, Group II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 2 97
C0266464 Polymicrogyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 2 19
C4021765 Morphological abnormality of the central nervous system group Anatomical Abnormality Abnormality of the nervous system 2 7
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
C3553450 Profound global developmental delay disease Disease or Syndrome Abnormality of the nervous system 1 19
C2700617 Irritation - emotion phenotype Behavior and Behavior Mechanisms Mental Process Abnormality of the nervous system 1 14
C1844505 Pointed chin phenotype Finding Abnormality of head or neck 1 13
C1856019 Abnormal cortical gyration phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding Abnormality of the nervous system 1 12
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 0 116