Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 323
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 120
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 38
C0424605 Developmental delay (disorder) phenotype Mental Disorders Mental or Behavioral Dysfunction 37
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 25
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 18
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 7
C1842581 Abnormal corpus callosum morphology phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system 6
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5
C0017181 Gastrointestinal Hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 5
C0235946 Cerebral atrophy disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 4
C0027746 Nerve Degeneration phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction Abnormality of the nervous system 2
C1855755 Abnormal immunoglobulin level phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 1
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 1
C0401151 Chronic diarrhea disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 1
C0042963 Vomiting phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system 1