Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C3494422 Retrognathia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 11 11
C1837731 Overfolded helix phenotype Finding Abnormality of the ear 7 7
C0520680 Sleep Apnea, Central disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 6 7
C0006625 Cachexia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Growth abnormality 2 2
C4225398 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY disease Disease or Syndrome 1 21
C3809454 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 disease Disease or Syndrome 1 6
C1837388 Abnormal pattern of respiration phenotype Finding Abnormality of the respiratory system 1 1
C4023171 Chin with horizontal crease phenotype Finding Abnormality of head or neck 1 1
C4025173 Arthrogryposis-like hand anomaly disease Congenital Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 1