Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0152268 Nodular Sclerosis Classical Hodgkin Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 66 22
C0265964 Mutilating keratoderma disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality genetic disease 9 24
C2673759 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4 98
C1844678 Progressive hearing loss stapes fixation disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity 4 35
C0265336 Senter syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 4 30
C1835672 Palmoplantar Keratoderma with Deafness disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 3 27
C2675750 DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 49
C0266004 Knuckle pads, leuconychia and sensorineural deafness disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality genetic disease 1 21
C1865234 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 20