Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 9 13
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 17 22
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 19 34
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 23 23
C0035300 Abnormal retinal morphology phenotype Eye Diseases Finding Abnormality of the eye 5 8
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
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
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
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 32 41
C0152423 Congenital small ears disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 9 11
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 26
C0231255 Decreased body mass index phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 2 3
C0239137 Coxa valga phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 4 5
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0410266 Contracture of hamstring(s) disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 2
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 11 20
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 18
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 24 31
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 12 15
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
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