Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0268353 Cutis laxa, x-linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of metabolism 1 10
C1845359 Spinal Muscular Atrophy, Distal, X-Linked 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 9
C0022716 Menkes Kinky Hair Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 2 98
C0003496 Aortic Rupture disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 5 0
C0027854 Neurologic Manifestations phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0
C0235031 Neurologic Symptoms group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0
C0422837 Neurological observations group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0
C0741160 Aortic Aneurysm, Ruptured disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome disease of anatomical entity 5 0
C0746857 Focal Neurologic Deficits phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0
C0751377 Neurologic Dysfunction phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0
C0751378 Neurologic Signs phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0
C0010495 Cutis Laxa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the integument 6 9
C0521654 Neurologic Deficits group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 4
C0019054 Hemolysis (disorder) phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0
C0235574 Intravascular hemolysis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0
C0312854 Extravascular Hemolysis disease Pathological Conditions, Signs and Symptoms Pathologic Function 6 0
C2936380 Neointima disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 6 0
C2936381 Neointima Formation phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0
C0234378 Static Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 9 3
C0235081 Tremor, Limb phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 9 3
C0234376 Action Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 9 1
C0234379 Resting Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 9 1
C0040827 Saturnine Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0
C0149840 Senile Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0
C0234370 Persistent Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0