Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1848410 Xeroderma pigmentosum, variant type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C0268141 Xeroderma pigmentosum, group G disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C0268140 Xeroderma pigmentosum, group F disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 1
C0268136 Xeroderma pigmentosum, group B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C0268135 Xeroderma pigmentosum, group A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C1848411 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality genetic disease 1
C0268138 Xeroderma Pigmentosum, Complementation Group D disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1
C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality genetic disease 1
C4552072 X-linked infantile spasms disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5
C4304400 X-linked hereditary sensory and autonomic neuropathy with deafness disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1
C0410203 X-linked centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity 1
C3280358 Wolfram-Like Syndrome, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C4518338 Wolfram-like syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1
C0043207 Wolfram Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 2
C0043194 Wiskott-Aldrich Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 1
C0043119 Werner Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 1
C0796195 Waisman syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1
C2750452 Waardenburg Syndrome, Type 4c disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome genetic disease 1
C2750457 Waardenburg Syndrome, Type 4b disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome genetic disease 1
C1848519 WAARDENBURG SYNDROME, TYPE 4A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome genetic disease 1
C2700265 Waardenburg Syndrome Type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 1
C1847800 Waardenburg Syndrome Type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 2
C3266898 Waardenburg Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 2
C3887523 Very long chain acyl-CoA dehydrogenase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C1568248 Usher Syndrome, Type III disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1