Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0024115 Lung diseases group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 32
C4551720 Primary Ciliary Dyskinesia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 21
C0006267 Bronchiectasis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 19
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 17
C0349588 Short stature phenotype Finding Growth abnormality 10
C2919142 Short Stature, CTCAE phenotype Finding 10
C0011053 Deafness phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding disease of anatomical entity Abnormality of the ear 7
C3806482 Recurrent respiratory infections phenotype Infections; Respiratory Tract Diseases Finding Abnormality of the immune system; Abnormality of the respiratory system 3
C2675229 CILIARY DYSKINESIA, PRIMARY, 11 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C0027429 Nasal obstruction present finding phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding Abnormality of head or neck 1
C0231918 Nose symptoms phenotype Sign or Symptom 1
C0029882 Otitis Media disease Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the ear 1
C0029883 Otitis Media with Effusion disease Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the ear 1
C2024891 Reduced exercise tolerance phenotype Finding 1
C0035455 Rhinitis disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 1
C1260880 Rhinorrhea phenotype Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom Abnormality of the respiratory system 1
C4552662 Rhinorrhea, CTCAE phenotype Finding 1
C0037199 Sinusitis disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck; Abnormality of the skeletal system 1
C0041667 Underweight phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 1