Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 12 15
C1857790 Thoracic scoliosis phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 4 5
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 24 31
C1850573 Slender build phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 1 2
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 24 25
C1843108 Short palm phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 11 13
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
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 33 50
C1855514 Severe failure to thrive phenotype Finding Growth abnormality 4 4
C0751495 Seizures, Focal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 6 9
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
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 11 20
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 78 218
C0878660 Proportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 7 11
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 23 25
C1843156 Progressive sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 17 18
C4023338 Profound sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 1 2
C3553937 PEROXISOME BIOGENESIS DISORDER 4B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 35
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C1849025 Oval face phenotype Finding Abnormality of head or neck 3 4
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 23 23
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 19 34