Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0423798 Increased tendency to bruise phenotype Wounds and Injuries Finding Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 133
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 93
C0267048 Glossoptosis disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck 24
C1839965 Multiple impacted teeth phenotype Stomatognathic Diseases Finding Abnormality of head or neck 3
C0020678 Hypotrichosis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 59
C2973725 Pulmonary arterial hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the respiratory system; Abnormality of the cardiovascular system 114
C0035229 Respiratory Insufficiency phenotype Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 304
C1145670 Respiratory Failure disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 162
C3203102 Idiopathic pulmonary arterial hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 103
C0040583 Tracheal Stenosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 24
C0019572 Hirsutism phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding disease of anatomical entity Abnormality of the integument 87
C0221260 Dystrophia unguium disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 78
C0019825 Hoarseness phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom Abnormality of the voice 64
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 622
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 551
C0018777 Conductive hearing loss disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 278
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1259
C0520947 Clumsiness - motor delay disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome disease of mental health 363
C0026106 Mild Mental Retardation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 269
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1292
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 312
C2267233 Neonatal Hypotonia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 159
C0751495 Seizures, Focal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 85
C0239137 Coxa valga phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 68
C0239998 Recurrent infections phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding Abnormality of the immune system 122