Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0008519 Ectopic Tissue phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 3 4
C0009451 Communicating Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 26 1
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 424 57
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 473 37
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 490 167
C0029128 Optic Disk Drusen disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 6 3
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 2152 553
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 649 224
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 192 50
C0152207 Alternating Exotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 1 1
C0162834 Hyperpigmentation phenotype Skin and Connective Tissue Diseases Pathologic Function Abnormality of the integument 73 11
C0162835 Hypopigmentation disorder disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 126 15
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 154 26
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489 64
C0266464 Polymicrogyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 199 29
C0266491 Neuronal heterotopia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 67 3
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 385 49
C0426886 Tapering fingers (finding) phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 91 19
C0431369 Dysgenesis of corpus callosum disease Congenital Abnormality Abnormality of the nervous system 25 3
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 560 192
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 300 32
C0566899 Small labia majora phenotype Finding Abnormality of the genitourinary system 35 3
C1527366 Salaam Seizures disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 75 9
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 96 19
C1835764 Vertebral arch anomaly phenotype Finding Abnormality of the skeletal system 2 1