Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237
C0003507 Aortic Valve Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 47
C0003537 Aphasia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 56
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 574
C0007787 Transient Ischemic Attack disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 44
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 165
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 446
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 596
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 318
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 232
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C0013528 Echolalia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 38
C0014848 Esophageal Achalasia disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 8
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 259
C0018552 Hamartoma disease Neoplasms Neoplastic Process Neoplasm 12
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
C0020295 Hydronephrosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 184
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590
C0021051 Immunologic Deficiency Syndromes group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 166
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 252
C0023221 Leg Length Inequality phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Growth abnormality 27
C0023787 Lipodystrophy disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity Abnormality of connective tissue 104
C0024421 Macroglossia disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the musculature 111
C0024433 Macrostomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 144