Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3714756 Intellectual Disability group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2023
C0543888 Epileptic encephalopathy disease Disease or Syndrome Abnormality of the nervous system 449
C0751651 Mitochondrial Diseases group Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity; disease of metabolism 303
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of connective tissue; Abnormality of the musculature; Abnormality of the skeletal system 257
C0010828 Cytopenia phenotype Pathologic Function 206
C0158995 Congenital anemia disease Disease or Syndrome 206
C0007959 Charcot-Marie-Tooth Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 199
C0029434 Osteogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome disease of anatomical entity 173
C0004138 Ataxias, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 155
C0086543 Cataract disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 151
C0023520 Leukodystrophy disease Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 146
C4277690 Ciliopathies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 139
C4302111 Familial Ménière disease disease Disease or Syndrome 124
C0152427 Polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder Abnormality of limbs; Abnormality of the skeletal system 117
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality physical disorder 113
C0431350 Primary microcephaly disease Congenital Abnormality 109
C0220994 Hyperammonemia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 103
C0282577 Congenital Disorders of Glycosylation group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 97
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 95
C0270960 Congenital myopathy (disorder) group Congenital Abnormality disease of anatomical entity 90
C0037773 Spastic Paraplegia, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 89
C0007820 Cerebrovascular Disorders group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 87
C0376545 Hematologic Neoplasms group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Neoplasm 86
C1112213 Cholestasis in newborn disease Disease or Syndrome 86
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 76