Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C4024201 Low-output congestive heart failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C1836150 Gait imbalance phenotype Finding Abnormality of the nervous system 20 24
C0856863 Broad-based gait phenotype Finding Abnormality of the nervous system 19 24
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 18 21
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
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
C0427065 Distal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 13 16
C4021726 EMG: myopathic abnormalities phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function Abnormality of the musculature 13 16
C0018808 Heart murmur phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the cardiovascular system 11 10
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 11 16
C1837108 Decreased muscle mass phenotype Finding Abnormality of the musculature 11 12
C3887499 Renal cyst phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 11 11
C0039070 Syncope phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the cardiovascular system 8 12
C0231712 Waddling gait phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 8 8
C0241237 Difficulty standing phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the musculature 8 14