Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0027868 Neuromuscular Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 11 38
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 32
C1834481 CARDIOMYOPATHY, DILATED, 1S disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 9 41
C0175709 Centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 4 12
C1836118 LEFT VENTRICULAR NONCOMPACTION 2 disease Disease or Syndrome 2 1
C1837342 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 230
C1838244 TIBIAL MUSCULAR DYSTROPHY, TARDIVE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 17
C1858763 Cardiomyopathy, Dilated, 1g disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 306
C1861065 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 7
C1863599 Hereditary Myopathy with Early Respiratory Failure disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 15
C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy disease Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 11
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C0221217 Neck webbing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of head or neck 11 19
C4021803 Abnormal eyelid morphology disease Anatomical Abnormality Abnormality of head or neck 3 3
C0079352 Congenital torticollis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the musculature 6 6
C1836296 Muscle Weakness Lower Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 15 15
C0686353 Muscular Dystrophies, Limb-Girdle group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of limbs; Abnormality of the musculature 7 7
C0427063 Shoulder girdle weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 4 4
C1698196 Muscle Weakness Upper Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 3 3
C1836767 Proximal lower limb amyotrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 3 4
C3805969 Scapular muscle atrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 2 2
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 45 172
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443