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
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0026351 Moderate intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 74 93
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 24 25
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 21 27
C3887898 Infantile Spasm disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 21 22
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 18
C3553450 Profound global developmental delay disease Disease or Syndrome Abnormality of the nervous system 17 19
C0424731 Single transverse palmar crease phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the integument; Abnormality of limbs 14 14
C1853738 Long eyelashes phenotype Finding Abnormality of the integument; Abnormality of head or neck 13 17
C2700617 Irritation - emotion phenotype Behavior and Behavior Mechanisms Mental Process Abnormality of the nervous system 12 14
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 11 20
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C1853487 Thick eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 9 13
C4021759 Generalized myoclonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 7 8
C0267071 Oropharyngeal Dysphagia disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 7 8