Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4304411 Xeroderma pigmentosum and Cockayne syndrome complex disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 1
C0043346 Xeroderma Pigmentosum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 5 12
C0238052 Xanthomatosis, Cerebrotendinous disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 69
C0043325 Xanthomatosis disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the integument 1 1
C0221253 Xanthoma tendinosum disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of the integument; Abnormality of the skeletal system 2 22
C1863688 Xanthinuria, Type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2 7
C0268118 Xanthinuria, Type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 1 4
C4551511 X-linked sideroblastic anemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 15
C0271836 X-linked reduction of thyroxine-binding globulin disease Disease or Syndrome 1 1
C1839615 X-linked myopathy with excessive autophagy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 8
C0549463 X-Linked Lymphoproliferative Disorder disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process genetic disease; disease of anatomical entity 2 1
C4305072 X-linked intellectual disability Van Esch type phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 5
C4552072 X-linked infantile spasms disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 14 111
C3275445 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 6
C0265216 X-linked hydrocephalus syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 11
C0751337 X-Linked Emery-Dreifuss Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 33
C1148551 X-Linked Dyskeratosis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 17
C1279481 X-Linked Combined Immunodeficiency Diseases group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 39
C4706465 X-linked Charcot-Marie-Tooth disease type 1 disease Disease or Syndrome 1 1
C3275487 X-linked cerebral, cerebellar, coloboma syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 2
C0410203 X-linked centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity 1 138
C0472813 X-linked agammaglobulinemia with growth hormone deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 17
C0221026 X-linked agammaglobulinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 62
C0342482 X-linked Adrenal Hypoplasia disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 58
C1845977 X- linked recessive phenotype Finding 1 1