Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 73
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 38
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 19
C0020305 Hydrops Fetalis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth 19
C2733158 Cerebral Small Vessel Diseases group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5
C0149931 Migraine Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 4
C3549447 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 disease Disease or Syndrome disease of anatomical entity 2
C0085584 Encephalopathies group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 2
C0270816 epilepsy and migraine disease Disease or Syndrome 2
C0220669 Familial benign neonatal epilepsy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2
C0238358 Hypokalemic periodic paralysis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0009421 Comatose phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 1
C1865322 MIGRAINE, FAMILIAL HEMIPLEGIC, 2 disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1