Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C1849265 Overgrowth phenotype Finding Growth abnormality 81 93
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 32 36
C0266464 Polymicrogyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 17 19
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 16 25
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 12 97
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 5 8
C0270685 Cerebral calcification phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the skeletal system 3 8
C1832884 Hemiplegic migraine, familial type 1 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 18
C1865322 MIGRAINE, FAMILIAL HEMIPLEGIC, 2 disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 11
C0338484 Familial Hemiplegic Migraine disease Nervous System Diseases Disease or Syndrome 1 7
C1865323 Migraine, Familial Basilar disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 1
C3549447 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 disease Disease or Syndrome disease of anatomical entity 1 1